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Disease on EC 5.6.2.3 - DNA 5'-3' helicase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acquired Immunodeficiency Syndrome
Components of the secondary pathway stimulate the primary pathway of eukaryotic Okazaki fragment processing.
Acute Kidney Injury
Dynamic changes in Bach1 expression in the kidney of rhabdomyolysis-associated acute kidney injury.
Adenocarcinoma
Genome-wide association study of familial lung cancer.
miR-330 Regulates Colorectal Cancer Oncogenesis by Targeting BACH1.
Recurrent amplification of RTEL1 and ABCA13 and its synergistic effect associated with clinicopathological data of gastric adenocarcinoma.
Silencing of BACH1 inhibits invasion and migration of prostate cancer cells by altering metastasis-related gene expression.
Therapeutic effects of bach1 siRNA on human breast adenocarcinoma cell line.
Adenocarcinoma of Lung
FBXO22, an epigenetic multiplayer coordinating senescence, hormone signaling, and metastasis.
The Role of Upregulated DDX11 as A Potential Prognostic and Diagnostic Biomarker in Lung Adenocarcinoma.
Adenoma
Aberration of Nrf2?Bach1 pathway in colorectal carcinoma; role in carcinogenesis and tumor progression.
Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A.
alpha-Thalassemia
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Alzheimer Disease
A novel variation in the Twinkle linker region causing late-onset dementia.
Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer's disease.
Bach1 Overexpression in Down Syndrome Correlates with the Alteration of the HO-1/BVR-A System: Insights for Transition to Alzheimer's Disease.
Borrowing nuclear DNA helicases to protect mitochondrial DNA.
microRNA 155 up regulation in the CNS is strongly correlated to Down's syndrome dementia.
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Amyotrophic Lateral Sclerosis
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.
Anemia
BRCA1-mediated repression of mutagenic end-joining of DNA double-strand breaks requires complex formation with BACH1.
Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways prevents MSH2-dependent aberrant DNA damage responses.
FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability.
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases.
Anemia, Aplastic
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
Anthrax
An essential DnaB helicase of Bacillus anthracis: identification, characterization, and mechanism of action.
Apraxias
A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.
Effects of senataxin and RNA exosome on B-cell chromosomal integrity.
Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.
Arthritis, Rheumatoid
Bach1 Inhibition Suppresses Osteoclastogenesis via Reduction of the Signaling via Reactive Oxygen Species by Reinforced Antioxidation.
RANKL induces Bach1 nuclear import and attenuates Nrf2-mediated antioxidant enzymes, thereby augmenting intracellular reactive oxygen species signaling and osteoclastogenesis in mice.
Arthrogryposis
Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5.
Astrocytoma
Analysis of difference of association between polymorphisms in the XRCC5, RPA3 and RTEL1 genes and glioma, astrocytoma and glioblastoma.
CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility.
New insights into susceptibility to glioma.
RTEL1 and TERT polymorphisms are associated with astrocytoma risk in the Chinese Han population.
RTEL1: functions of a disease-associated helicase.
Ataxia
Effects of senataxin and RNA exosome on B-cell chromosomal integrity.
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
SANDO: Two novel mutations in POLG1 gene.
Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.
Ataxia Telangiectasia
Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovarian Carcinoma: Their Expression and Clinical Significance.
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
Atherosclerosis
Ablation of the bach1 gene leads to the suppression of atherosclerosis in bach1 and apolipoprotein E double knockout mice.
Effects of genetic ablation of bach1 upon smooth muscle cell proliferation and atherosclerosis after cuff injury.
Autoimmune Diseases
The Bach Family of Transcription Factors: A Comprehensive Review.
Blepharoptosis
Orthostatic Tremor, Progressive External Ophthalmoplegia, and Twinkle.
Bloom Syndrome
A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes.
Aberrant chromosome morphology in human cells defective for Holliday junction resolution.
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells.
BLM's balancing act and the involvement of FANCJ in DNA repair.
BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins.
Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences.
Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes.
Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase.
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein.
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome.
Chromosome breakage syndromes and cancer.
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
Complex activities of the human Bloom's syndrome helicase are encoded in a core region comprising the RecA and Zn-binding domains.
Covalent modification of the Werner's syndrome gene product with the ubiquitin-related protein, SUMO-1.
Dephosphorylation and subcellular compartment change of the mitotic Bloom's syndrome DNA helicase in response to ionizing radiation.
Design, Synthesis, and Evaluation of New Quinazolinone Derivatives that Inhibit Bloom Syndrome Protein (BLM) Helicase, Trigger DNA Damage at the Telomere Region, and Synergize with PARP Inhibitors.
Elevation of sister chromatid exchange in Saccharomyces cerevisiae sgs1 disruptants and the relevance of the disruptants as a system to evaluate mutations in Bloom's syndrome gene.
FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice.
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease.
Genetic mapping of species differences via in vitro crosses in mouse embryonic stem cells.
hRAD54 gene and 1p high-resolution deletion-mapping analyses in oligodendrogliomas.
Multifaceted role of the Topo III?-RMI1-RMI2 complex and DNA2 in the BLM-dependent pathway of DNA break end resection.
Multiple functions of Drosophila BLM helicase in maintenance of genome stability.
Novel pro- and anti-recombination activities of the Bloom's syndrome helicase.
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.
Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A.
Purification of overexpressed hexahistidine-tagged BLM N431 as oligomeric complexes.
RECQ-like helicases Sgs1 and BLM regulate R-loop-associated genome instability.
Redundancy of DNA helicases in p53-mediated apoptosis.
Regulation of homologous integration in yeast by the DNA repair proteins Ku70 and RecQ.
Removal of the Bloom Syndrome DNA Helicase Extends the Utility of Imprecise Transposon Excision for Making Null Mutations in Drosophila.
Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity.
Requirement of yeast SGS1 and SRS2 genes for replication and transcription.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Somatic hypermutation of immunoglobulin genes is independent of the Bloom's syndrome DNA helicase.
Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase.
The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage.
The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability.
The contribution of the S-phase checkpoint genes MEC1 and SGS1 to genome stability maintenance in Candida albicans.
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.
The fission yeast BLM homolog Rqh1 promotes meiotic recombination.
The human Bloom syndrome gene suppresses the DNA replication and repair defects of yeast dna2 mutants.
Visualization of human Bloom's syndrome helicase molecules bound to homologous recombination intermediates.
Bone Marrow Diseases
FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability.
Bone Marrow Failure Disorders
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.
FANCJ helicase promotes DNA end resection by facilitating CtIP recruitment to DNA double-strand breaks.
Fanconi Anemia Complementation Group FANCD2 Protein Serine 331 Phosphorylation Is Important for Fanconi Anemia Pathway Function and BRCA2 Interaction.
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility.
Bowen's Disease
Expression of Minichromosome Maintenance Proteins in Actinic Keratosis and Squamous Cell Carcinoma.
Brain Diseases
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
Recessive twinkle mutations cause severe epileptic encephalopathy.
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Twinkle-Associated Mitochondrial DNA Depletion.
Brain Neoplasms
CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility.
Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma.
Breast Neoplasms
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.
Activation of BRCA1/BRCA2-associated helicase BACH1 is required for timely progression through S phase.
Analysis of the DNA substrate specificity of the human BACH1 helicase associated with breast cancer.
Assessing the link between BACH1 and BRCA1 in the FA pathway.
Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair.
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
BACH1 517C-->T transition impairs protein translocation to nucleus: a role in breast cancer susceptibility?
BACH1 Ser919Pro variant and breast cancer risk.
BACH1 silencing by siRNA inhibits migration of HT-29 colon cancer cells through reduction of metastasis-related genes.
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
BACH1, the master regulator gene: A novel candidate target for cancer therapy.
BRCA1-mediated repression of mutagenic end-joining of DNA double-strand breaks requires complex formation with BACH1.
BRIP1 inhibits the tumorigenic properties of cervical cancer by regulating RhoA GTPase activity.
Clinical implications of germline mutations in breast cancer genes: RECQL.
Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature-based meta-analysis and meta-regression analysis.
Disease-causing missense mutations in human DNA helicase disorders.
DNA helicases associated with genetic instability, cancer, and aging.
Effective breast cancer combination therapy targeting BACH1 and mitochondrial metabolism.
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins.
FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice.
FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability.
FANCJ helicase uniquely senses oxidative base damage in either strand of duplex DNA and is stimulated by RPA to unwind the damaged DNA substrate in a strand-specific manner.
FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation.
FANCJ uses its motor ATPase to destabilize protein-DNA complexes, unwind triplexes, and inhibit RAD51 strand exchange.
FANCJ: solving problems in DNA replication.
Fanconi Anemia Group J Helicase and MRE11 Nuclease Interact to Facilitate the DNA Damage Response.
Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
HMGA2 and Bach-1 cooperate to promote breast cancer cell malignancy.
Insight into the Roles of Helicase Motif Ia by Characterizing Fanconi Anemia Group J Protein (FANCJ) Patient Mutations.
LncRNA SNHG5 promotes the glycolysis and proliferation of breast cancer cell through regulating BACH1 via targeting miR-299.
Loss of the BRCA1-Interacting Helicase BRIP1 Results in Abnormal Mammary Acinar Morphogenesis.
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
Mutational analysis of FANCJ helicase.
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.
Network of mutually repressive metastasis regulators can promote cell heterogeneity and metastatic transitions.
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
RECQL: a DNA helicase in breast cancer.
RECQL: a new breast cancer susceptibility gene.
shRNA knockdown of DNA helicase ERCC6L expression inhibits human breast cancer growth.
Silencing of bach1 gene by small interfering RNA-mediation regulates invasive and expression level of miR-203, miR-145, matrix metalloproteinase-9, and CXCR4 receptor in MDA-MB-468 breast cancer cells.
Silencing of BACH1 inhibits invasion and migration of prostate cancer cells by altering metastasis-related gene expression.
Specialization among Iron-Sulfur Cluster Helicases to Resolve G-quadruplex DNA Structures That Threaten Genomic Stability.
Stabilization of G-quadruplex DNA structures in Schizosaccharomyces pombe causes single-strand DNA lesions and impedes DNA replication.
Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling.
Targeting the FANCJ-BRCA1 interaction promotes a switch from recombination to poleta-dependent bypass.
The Antitumor Mechanism of Paeonol on CXCL4/CXCR3-B Signals in Breast Cancer Through Induction of Tumor Cell Apoptosis.
The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells.
The Fanconi anemia/BRCA gene network in zebrafish: Embryonic expression and comparative genomics.
The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function.
Therapeutic effects of bach1 siRNA on human breast adenocarcinoma cell line.
Transcriptional Network Analysis Identifies BACH1 as A Master Regulator of Breast Cancer Bone Metastasis.
Transcriptomic and protein expression analysis reveals clinicopathological significance of Bloom's syndrome helicase (BLM) in breast cancer.
Utilization of fluorescence in situ hybridization with cytokeratin discriminators in TOP2A assessment of chemotherapy-treated patients with breast cancer.
Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins.
Carcinogenesis
Aberration of Nrf2?Bach1 pathway in colorectal carcinoma; role in carcinogenesis and tumor progression.
Bach1 deficiency and accompanying overexpression of heme oxygenase-1 do not influence aging or tumorigenesis in mice.
Bach1 is critical for the transformation of mouse embryonic fibroblasts by Ras(V12) and maintains ERK signaling.
BACH1 promotes the progression of esophageal squamous cell carcinoma by inducing the epithelial-mesenchymal transition and angiogenesis.
BRIP1 inhibits the tumorigenic properties of cervical cancer by regulating RhoA GTPase activity.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
FANCJ couples replication past natural fork barriers with maintenance of chromatin structure.
FANCJ helicase uniquely senses oxidative base damage in either strand of duplex DNA and is stimulated by RPA to unwind the damaged DNA substrate in a strand-specific manner.
Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis.
Inhibition of BACH1 (FANCJ) helicase by backbone discontinuity is overcome by increased motor ATPase or length of loading strand.
LncRNA REG1CP promotes tumorigenesis through an enhancer complex to recruit FANCJ helicase for REG3A transcription.
miR-330 Regulates Colorectal Cancer Oncogenesis by Targeting BACH1.
Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11.
Nuclear PGK1 Alleviates ADP-Dependent Inhibition of CDC7 to Promote DNA Replication.
Overexpression of the BRIP1 ameliorates chemosensitivity to cisplatin by inhibiting Rac1 GTPase activity in cervical carcinoma HeLa cells.
Recurrent amplification of RTEL1 and ABCA13 and its synergistic effect associated with clinicopathological data of gastric adenocarcinoma.
Role of Werner syndrome gene product helicase in carcinogenesis and in resistance to genotoxins by cancer cells.
The repair gene BACH1 - a potential oncogene.
XPD-The Lynchpin of NER: Molecule, Gene, Polymorphisms, and Role in Colorectal Carcinogenesis.
Carcinoid Tumor
Down-Regulation of miR-129-5p and the let-7 Family in Neuroendocrine Tumors and Metastases Leads to Up-Regulation of Their Targets Egr1, G3bp1, Hmga2 and Bach1.
Carcinoma
Aberration of Nrf2?Bach1 pathway in colorectal carcinoma; role in carcinogenesis and tumor progression.
Association between visceral adiposity and DDX11 as a predictor of aggressiveness of small clear-cell renal-cell carcinoma: a prospective clinical trial.
BACH1 promotes the progression of esophageal squamous cell carcinoma by inducing the epithelial-mesenchymal transition and angiogenesis.
DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.
Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma.
Expression of Minichromosome Maintenance Proteins in Actinic Keratosis and Squamous Cell Carcinoma.
Expression of the oxidative stress-regulated transcription factor bach2 in differentiating neuronal cells.
The DEAD/DEAH Box Helicase, DDX11, Is Essential for the Survival of Advanced Clear Cell Renal Cell Carcinoma and Is a Determinant of PARP Inhibitor Sensitivity.
Carcinoma, Hepatocellular
BACH1 is transcriptionally inhibited by TET1 in hepatocellular carcinoma in a microRNA-34a-dependent manner to regulate autophagy and inflammation.
E2F1 mediated DDX11 transcriptional activation promotes hepatocellular carcinoma progression through PI3K/AKT/mTOR pathway.
Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis.
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.
HCV proteins increase expression of heme oxygenase-1 (HO-1) and decrease expression of Bach1 in human hepatoma cells.
Heme oxygenase-1 induction by heat shock in rat hepatoma cell line is regulated by the coordinated function of HSF1, NRF2, AND BACH1.
LncRNA TRG-AS1 stimulates hepatocellular carcinoma progression by sponging miR-4500 to modulate BACH1.
MicroRNA-196 represses Bach1 protein and hepatitis C virus gene expression in human hepatoma cells expressing hepatitis C viral proteins.
Overexpression and role of the ATPase and putative DNA helicase RuvB-like 2 in human hepatocellular carcinoma.
Zinc mesoporphyrin induces rapid and marked degradation of the transcription factor bach1 and up-regulates HO-1.
Carcinoma, Ovarian Epithelial
BTB and CNC homology 1 (Bach1) promotes human ovarian cancer cell metastasis by HMGA2-mediated epithelial-mesenchymal transition.
Helicase POLQ-like (HELQ) as a novel indicator of platinum-based chemoresistance for epithelial ovarian cancer.
Carcinoma, Renal Cell
DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.
The DEAD/DEAH Box Helicase, DDX11, Is Essential for the Survival of Advanced Clear Cell Renal Cell Carcinoma and Is a Determinant of PARP Inhibitor Sensitivity.
Carcinoma, Squamous Cell
Expression of Minichromosome Maintenance Proteins in Actinic Keratosis and Squamous Cell Carcinoma.
Genome-wide association study of familial lung cancer.
Cardiomyopathies
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species.
Twinkle overexpression prevents cardiac rupture after myocardial infarction by alleviating impaired mitochondrial biogenesis.
Cataract
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
What can we learn from Werner syndrome? A biased view from a rheumatologist.
Cerebellar Ataxia
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
Cerebral Infarction
Downregulation of BACH1 Protects AGAINST Cerebral Ischemia/Reperfusion Injury through the Functions of HO-1 and NQO1.
Cockayne Syndrome
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
The DNA helicases acting in nucleotide excision repair, XPD, CSB and XPB, are not required for PCNA-dependent repair of abasic sites.
XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.
Coinfection
Inhibition of Bombyx mori nuclear polyhedrosis virus (NPV) replication by the putative DNA helicase gene of Autographa californica NPV.
Colitis, Ulcerative
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Colonic Neoplasms
BACH1 silencing by siRNA inhibits migration of HT-29 colon cancer cells through reduction of metastasis-related genes.
Long non-coding RNA NEAT1 absorbs let-7 g-5p to induce epithelial-mesenchymal transition of colon cancer cells through upregulating BACH1.
miR-330 Regulates Colorectal Cancer Oncogenesis by Targeting BACH1.
Colorectal Neoplasms
BACH1 promotes the progression of human colorectal cancer through BACH1/CXCR4 pathway.
CircBACH1/let-7a-5p axis enhances the proliferation and metastasis of colorectal cancer by upregulating CREB5 expression.
Circ_0087862 promotes the progression of colorectal cancer by sponging miR-142-3p and up-regulating BACH1 expression.
FANCJ Expression Predicts the Response to 5-Fluorouracil-Based Chemotherapy in MLH1-Proficient Colorectal Cancer.
Immunohistochemical Study of the Nrf2 Pathway in Colorectal Cancer: Nrf2 Expression is Closely Correlated to Keap1 in the Tumor and Bach1 in the Normal Tissue.
Interactions between SAP155 and FUSE-binding protein-interacting repressor bridges c-Myc and P27Kip1 expression.
miR-330 Regulates Colorectal Cancer Oncogenesis by Targeting BACH1.
Oncogenic HOXB8 is driven by MYC-regulated super-enhancer and potentiates colorectal cancer invasiveness via BACH1.
The Ratio of Hmox1/Nrf2 mRNA Level in the Tumor Tissue Is a Predictor of Distant Metastasis in Colorectal Cancer.
Congenital Abnormalities
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Coronary Disease
Genetic analysis of the relation of telomere length-related gene (RTEL1) and coronary heart disease risk.
De Lange Syndrome
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
Decompression Sickness
Evidence of Microbubbles on Kidney Stones in Humans.
Deglutition Disorders
A novel variation in the Twinkle linker region causing late-onset dementia.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Dementia
A novel variation in the Twinkle linker region causing late-onset dementia.
microRNA 155 up regulation in the CNS is strongly correlated to Down's syndrome dementia.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Dermatitis, Atopic
Cannabidiol induces antioxidant pathways in keratinocytes by targeting BACH1.
Diffuse Cerebral Sclerosis of Schilder
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
dna 5'-3' helicase deficiency
An MLH1 Mutation Links BACH1/FANCJ to Colon Cancer, Signaling, and Insight toward Directed Therapy.
Bach1 deficiency ameliorates hepatic injury in a mouse model.
Bach1 deficiency and accompanying overexpression of heme oxygenase-1 do not influence aging or tumorigenesis in mice.
Bach1 deficiency protects pancreatic ?-cells from oxidative stress injury.
Bach1 deficiency reduces severity of osteoarthritis through upregulation of heme oxygenase-1.
Bach1 promotes muscle regeneration through repressing Smad-mediated inhibition of myoblast differentiation.
Biochemical characterization of Warsaw breakage syndrome helicase.
Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes.
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Correction to: Suppression of indomethacin-induced apoptosis in the small intestine due to Bach1 deficiency.
Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Deficiency of the Arabidopsis Helicase RTEL1 Triggers a SOG1-Dependent Replication Checkpoint in Response to DNA Cross-Links.
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.
Effect of minichromosome maintenance protein 2 deficiency on the locations of DNA replication origins.
FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation.
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Genetic Ablation of Transcription Repressor Bach1 Reduces Neural Tissue Damage and Improves Locomotor Function after Spinal Cord Injury in Mice.
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Inhibition of Bach1 ameliorates indomethacin-induced intestinal injury in mice.
Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2.
Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under Replication of DNA.
RTEL1 influences the abundance and localization of TERRA RNA.
Single-molecule imaging reveals replication fork coupled formation of G-quadruplex structures hinders local replication stress signaling.
Suppression of indomethacin-induced apoptosis in the small intestine due to Bach1 deficiency.
Down Syndrome
Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer's disease.
Analysis of mtDNA, miR-155 and BACH1 expression in hearts from donors with and without Down syndrome.
Bach1 Overexpression in Down Syndrome Correlates with the Alteration of the HO-1/BVR-A System: Insights for Transition to Alzheimer's Disease.
Overexpression of transcription factor BACH1 in fetal Down syndrome brain.
Drug Hypersensitivity
DDX11 loss causes replication stress and pharmacologically exploitable DNA repair defects.
Ductus Arteriosus, Patent
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Dysarthria
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
SANDO: Two novel mutations in POLG1 gene.
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Dyskeratosis Congenita
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita.
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Generation of an Rtel1-CreERT2 knock-in mouse model for lineage tracing RTEL1+ stem cells during development.
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
RTEL1: functions of a disease-associated helicase.
Specialization among Iron-Sulfur Cluster Helicases to Resolve G-quadruplex DNA Structures That Threaten Genomic Stability.
Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.
The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains Harmonin-N-like domains.
[Recurrent pulmonary infection and oral mucosal ulcer].
[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].
Dysphonia
A novel variation in the Twinkle linker region causing late-onset dementia.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Dysplastic Nevus Syndrome
Minichromosome maintenance protein expression in benign nevi, dysplastic nevi, melanoma, and cutaneous melanoma metastases.
On the interplay of telomeres, nevi and the risk of melanoma.
Epidermal Cyst
Twinkle artefact in the ultrasound diagnosis of superficial epidermoid cysts.
Epilepsy
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Migraine and epilepsy: A focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects.
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Esophageal Squamous Cell Carcinoma
BACH1 promotes the progression of esophageal squamous cell carcinoma by inducing the epithelial-mesenchymal transition and angiogenesis.
Fanconi Anemia
Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.
Assessing the link between BACH1 and BRCA1 in the FA pathway.
Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair.
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
Biochemical characterization of Warsaw breakage syndrome helicase.
BLM's balancing act and the involvement of FANCJ in DNA repair.
BRCA1-mediated repression of mutagenic end-joining of DNA double-strand breaks requires complex formation with BACH1.
Cancer-associated mutations in the iron-sulfur domain of FANCJ affect G-quadruplex metabolism.
Chl1 DNA Helicase Regulates Scc2 Deposition Specifically during DNA-Replication in Saccharomyces cerevisiae.
Conserved overlapping gene arrangement, restricted expression, and biochemical activities of DNA polymerase ? (POLN).
CtIP- and ATR-dependent FANCJ phosphorylation in response to DNA strand breaks mediated by DNA replication.
Decreased FANCJ caused by 5FU contributes to the increased sensitivity to oxaliplatin in gastric cancer cells.
Disease-causing missense mutations in human DNA helicase disorders.
DNA helicases associated with genetic instability, cancer, and aging.
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins.
FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway.
FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex.
FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice.
FANCJ Expression Predicts the Response to 5-Fluorouracil-Based Chemotherapy in MLH1-Proficient Colorectal Cancer.
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.
FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability.
FANCJ helicase operates in the Fanconi Anemia DNA repair pathway and the response to replicational stress.
FANCJ helicase promotes DNA end resection by facilitating CtIP recruitment to DNA double-strand breaks.
FANCJ helicase uniquely senses oxidative base damage in either strand of duplex DNA and is stimulated by RPA to unwind the damaged DNA substrate in a strand-specific manner.
FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation.
FANCJ promotes DNA synthesis through G-quadruplex structures.
FancJ regulates interstrand crosslinker induced centrosome amplification through the activation of polo-like kinase 1.
FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway.
FANCJ uses its motor ATPase to destabilize protein-DNA complexes, unwind triplexes, and inhibit RAD51 strand exchange.
FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses.
FANCJ: solving problems in DNA replication.
Fanconi Anemia Complementation Group FANCD2 Protein Serine 331 Phosphorylation Is Important for Fanconi Anemia Pathway Function and BRCA2 Interaction.
Fanconi Anemia Group J Helicase and MRE11 Nuclease Interact to Facilitate the DNA Damage Response.
Helicase-inactivating mutations as a basis for dominant negative phenotypes.
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
HP1 regulates the localization of FANCJ at sites of DNA double-strand breaks.
Inhibition of BACH1 (FANCJ) helicase by backbone discontinuity is overcome by increased motor ATPase or length of loading strand.
Insight into the Roles of Helicase Motif Ia by Characterizing Fanconi Anemia Group J Protein (FANCJ) Patient Mutations.
Investigation of the core binding regions of human Werner syndrome and Fanconi anemia group J helicases on replication protein A.
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
Mustard Seed (Brassica nigra) Extract Exhibits Antiproliferative Effect against Human Lung Cancer Cells through Differential Regulation of Apoptosis, Cell Cycle, Migration, and Invasion.
Mutagenic capacity of endogenous G4 DNA underlies genome instability in FANCJ-defective C. elegans.
Mutational analysis of FANCJ helicase.
Opposing Roles of FANCJ and HLTF Protect Forks and Restrain Replication during Stress.
Specialization among Iron-Sulfur Cluster Helicases to Resolve G-quadruplex DNA Structures That Threaten Genomic Stability.
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.
The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells.
The Fanconi anemia proteins FANCD2 and FANCJ interact and regulate each other's chromatin localization.
The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function.
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins.
[DNA helicases and human diseases]
Fatty Liver
Bach1 gene ablation reduces steatohepatitis in mouse MCD diet model.
Fragile X Syndrome
Human werner syndrome DNA helicase unwinds tetrahelical structures of the fragile X syndrome repeat sequence d(CGG)n.
GATA2 Deficiency
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
Genetic Diseases, Inborn
A Distinct Triplex DNA Unwinding Activity of ChlR1 Helicase.
An E2F1/DDX11/EZH2 Positive Feedback Loop Promotes Cell Proliferation in Hepatocellular Carcinoma.
Biochemical Characterization of the Human Mitochondrial Replicative Twinkle Helicase: SUBSTRATE SPECIFICITY, DNA BRANCH MIGRATION, AND ABILITY TO OVERCOME BLOCKADES TO DNA UNWINDING.
Biochemical characterization of Warsaw breakage syndrome helicase.
Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients.
Human WRN is an intrinsic inhibitor of progerin, abnormal splicing product of lamin A.
IDIOPATHIC PULMONARY FIBROSIS IS A COMPLEX GENETIC DISORDER.
Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways.
Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11.
RNF8 ubiquitinates RecQL4 and promotes its dissociation from DNA double strand breaks.
Spotlight on Warsaw Breakage Syndrome.
The Genome Stability Maintenance DNA Helicase DDX11 and Its Role in Cancer.
The Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase.
Glioblastoma
Analysis of difference of association between polymorphisms in the XRCC5, RPA3 and RTEL1 genes and glioma, astrocytoma and glioblastoma.
Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.
Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a chinese population.
BACH1 Promotes Temozolomide Resistance in Glioblastoma through Antagonizing the Function of p53.
Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma.
Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.
RTEL1: functions of a disease-associated helicase.
Glioma
A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes.
Adult Diffuse Glioma GWAS by Molecular Subtype Identifies Variants in D2HGDH and FAM20C.
Analysis of 60 reported glioma risk SNPs replicates published GWAS findings but fails to replicate associations from published candidate-gene studies.
Analysis of difference of association between polymorphisms in the XRCC5, RPA3 and RTEL1 genes and glioma, astrocytoma and glioblastoma.
Association analysis of RTEL1 variants with risk of adult gliomas in a Korean population.
Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies.
Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a chinese population.
Associations between the rs6010620 polymorphism in RTEL1 and risk of glioma: a meta-analysis of 20,711 participants.
Cancer susceptibility variants and the risk of adult glioma in a US case-control study.
Distinct germ line polymorphisms underlie glioma morphologic heterogeneity.
Fine mapping analysis of a region of 20q13.33 identified five independent susceptibility loci for glioma in a Chinese Han population.
Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma.
Genome-wide association study identifies five susceptibility loci for glioma.
miR-4530 inhibits the malignant biological behaviors of human glioma cells by directly targeting RTEL1.
New insights into susceptibility to glioma.
Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contribute to increased risk of glioma.
Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients.
RTEL1 tagging SNPs and haplotypes were associated with glioma development.
RTEL1: functions of a disease-associated helicase.
Telomere length and risk of glioma.
The Genetic Architecture of Gliomagenesis-Genetic Risk Variants Linked to Specific Molecular Subtypes.
The role of the RTEL1 rs2297440 polymorphism in the risk of glioma development: a meta-analysis.
The RTEL1 rs6010620 polymorphism and glioma risk: a meta-analysis based on 12 case-control studies.
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
Hearing Loss
A novel variation in the Twinkle linker region causing late-onset dementia.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Hearing Loss, Sensorineural
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Heart Defects, Congenital
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Heart Diseases
The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice.
Heart Failure
The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice.
Heart Rupture
Twinkle overexpression prevents cardiac rupture after myocardial infarction by alleviating impaired mitochondrial biogenesis.
Heart Septal Defects, Atrial
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Heart Septal Defects, Ventricular
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Hepatitis B
Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH.
Hepatitis C
Comparisons between the structures of HCV and Rep helicases reveal structural similarities between SF1 and SF2 super-families of helicases.
Crystal structure of the ATPase domain of translation initiation factor 4A from Saccharomyces cerevisiae--the prototype of the DEAD box protein family.
DNA helicase activity of the hepatitis C virus nonstructural protein 3.
MicroRNA-196 represses Bach1 protein and hepatitis C virus gene expression in human hepatoma cells expressing hepatitis C viral proteins.
MicroRNA-let-7c suppresses hepatitis C virus replication by targeting Bach1 for induction of heme oxygenase-1 expression.
Structurally conserved amino Acid w501 is required for RNA helicase activity but is not essential for DNA helicase activity of hepatitis C virus NS3 protein.
The hepatitis C viral NS3 protein is a processive DNA helicase with cofactor enhanced RNA unwinding.
The macroscopic rate of nucleic acid translocation by hepatitis C virus helicase NS3h is dependent on both sugar and base moieties.
Herpes Simplex
A DNA helicase induced by herpes simplex virus type 1.
A novel conformation of the herpes simplex virus origin of DNA replication recognized by the origin binding protein.
Association of DNA helicase and primase activities with a subassembly of the herpes simplex virus 1 helicase-primase composed of the UL5 and UL52 gene products.
Complex of the herpes simplex virus type 1 origin binding protein UL9 with DNA as a platform for the design of a new type of antiviral drugs.
Functional properties of the herpes simplex virus type I origin-binding protein are controlled by precise interactions with the activated form of the origin of DNA replication.
Herpes simplex virus 1 helicase-primase: a complex of three herpes-encoded gene products.
Herpes simplex virus helicase-primase: the UL8 protein is not required for DNA-dependent ATPase and DNA helicase activities.
Identification of residues within the herpes simplex virus type 1 origin-binding protein that contribute to sequence-specific DNA binding.
Inhibition of herpes simplex virus replication by a 2-amino thiazole via interactions with the helicase component of the UL5-UL8-UL52 complex.
Inhibition of herpes simplex virus type 1 DNA replication by mutant forms of the origin-binding protein.
Interactions of a subassembly of the herpes simplex virus type 1 helicase-primase with DNA.
Modulation of the herpes simplex virus type-1 UL9 DNA helicase by its cognate single-strand DNA-binding protein, ICP8.
Purification and characterization of delta helicase from fetal calf thymus.
Sequence of the HindIII T fragment of human cytomegalovirus, which encodes a DNA helicase.
The DNA ligands influence the interactions between the herpes simplex virus 1 origin binding protein and the single strand DNA-binding protein, ICP-8.
The herpes simplex virus 1 origin binding protein: a DNA helicase.
The herpes simplex virus type 1 origin-binding protein carries out origin specific DNA unwinding and forms stem-loop structures.
The herpes simplex virus type 1 origin-binding protein interacts specifically with the viral UL8 protein.
The herpes simplex virus type-1 origin binding protein. DNA helicase activity.
The herpes simplex virus type-1 single-strand DNA-binding protein, ICP8, increases the processivity of the UL9 protein DNA helicase.
The origin-binding domain of the herpes simplex virus type 1 UL9 protein is not required for DNA helicase activity.
[Complex of the herpes simplex virus initiator protein UL9 with DNA as a platform for the design of a new type of antiviral drugs]
Hypersensitivity
Biochemical characterization of Warsaw breakage syndrome helicase.
Hypokalemia
Age-related changes in renal function, membrane protein metabolism, and Na,K-ATPase activity and abundance in hypokalemic F344 x BNF(1) rats.
Ichthyosis
Specialization among Iron-Sulfur Cluster Helicases to Resolve G-quadruplex DNA Structures That Threaten Genomic Stability.
Trypanosoma brucei harbours a divergent XPB helicase paralogue that is specialized in nucleotide excision repair and conserved among kinetoplastid organisms.
Idiopathic Pulmonary Fibrosis
IDIOPATHIC PULMONARY FIBROSIS IS A COMPLEX GENETIC DISORDER.
Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways.
Illusions
Illusory stimuli can be used to identify retinal blind spots.
Infarction, Middle Cerebral Artery
MicroRNA-532-5p upregulation protects neurological deficits after ischemic stroke through inhibition of BTB and CNC homology 1.
Infections
Abortive infection of the baculovirus Autographa californica nuclear polyhedrosis virus in Sf-9 cells after mutation of the putative DNA helicase gene.
Differential gene expression profile from haematopoietic tissue stem cells of red claw crayfish, Cherax quadricarinatus, in response to WSSV infection.
DNA helicase requirements for DNA replication during bacteriophage T4 infection.
Herpes simplex virus 1 helicase-primase: a complex of three herpes-encoded gene products.
High-Definition Analysis of Host Protein Stability during Human Cytomegalovirus Infection Reveals Antiviral Factors and Viral Evasion Mechanisms.
Interaction of the bacteriophage T4 gene 59 helicase loading protein and gene 41 helicase with each other and with fork, flap, and cruciform DNA.
Let-7c overexpression inhibits dengue virus replication in human hepatoma Huh-7 cells.
MOV10 interacts with Enterovirus 71 genomic 5'UTR and modulates viral replication.
Insulin Resistance
Bach1 deficiency protects pancreatic ?-cells from oxidative stress injury.
Intellectual Disability
Human DNA Helicase B as a Candidate for Unwinding Secondary CGG Repeat Structures at the Fragile X Mental Retardation Gene.
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
The expanding phenotypes of cohesinopathies: one ring to rule them all!
The Genome Stability Maintenance DNA Helicase DDX11 and Its Role in Cancer.
Intervertebral Disc Degeneration
Therapeutic effect of co-culture of rat bone marrow mesenchymal stem cells and degenerated nucleus pulposus cells on intervertebral disc degeneration.
Intestinal Pseudo-Obstruction
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Iron Deficiencies
Iron-heme-Bach1 axis is involved in erythroblast adaptation to iron deficiency.
Loss of mitochondrial localization of human FANCG causes defective FANCJ helicase.
Keratosis, Actinic
Expression of Minichromosome Maintenance Proteins in Actinic Keratosis and Squamous Cell Carcinoma.
Kidney Calculi
Acoustic shadowing in pediatric kidney stone ultrasound: a retrospective study with non-enhanced computed tomography as reference standard.
Does twinkle artifact truly represent a kidney stone on renal ultrasound?
Doppler artifacts and pitfalls.
Evidence of Microbubbles on Kidney Stones in Humans.
Relationship between Twinkle Artefacts and in vivo Biochemical Composition of Kidney Stones.
Kidney Neoplasms
ERCC6L, a DNA helicase, is involved in cell proliferation and associated with survival and progress in breast and kidney cancers.
microRNA-155 silencing inhibits proliferation and migration and induces apoptosis by upregulating BACH1 in renal cancer cells.
Leukemia
Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers.
MOV10 interacts with Enterovirus 71 genomic 5'UTR and modulates viral replication.
Regulatory heme and trichloroethylene intoxication: A possible explanation of the case of "A Civil Action".
Leukemia, Erythroblastic, Acute
Heme induces ubiquitination and degradation of the transcription factor Bach1.
Heme positively regulates the expression of beta-globin at the locus control region via the transcriptional factor Bach1 in erythroid cells.
Heme regulates the dynamic exchange of Bach1 and NF-E2-related factors in the Maf transcription factor network.
Heme-dependent up-regulation of the alpha-globin gene expression by transcriptional repressor Bach1 in erythroid cells.
Leukopenia
Germline polymorphisms in patients with advanced nonsmall cell lung cancer receiving first-line platinum-gemcitabine chemotherapy: A prospective clinical study.
Liver Diseases
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options.
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.
SanWeiGanJiang San relieves liver injury via Nrf2/Bach1.
Liver Failure
Next Generation Sequencing Facilitates The Diagnosis In A Child With Twinkle Mutations Causing Cholestatic Liver Failure.
Loeys-Dietz Syndrome
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Lung Diseases
Pulmonary phenotypes associated with genetic variation in telomere-related genes.
The double knockout of Bach1 and Bach2 in mice reveals shared compensatory mechanisms in regulating alveolar macrophage function and lung surfactant homeostasis.
Lung Diseases, Interstitial
Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia.
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.
Lung Injury
Genetic ablation of Bach1 gene enhances recovery from hyperoxic lung injury in newborn mice via transient upregulation of inflammatory genes.
Genetic ablation of the Bach1 gene reduces hyperoxic lung injury in mice: role of IL-6.
Lung Neoplasms
A Novel Therapeutic Target, BACH1, Regulates Cancer Metabolism.
Analysis of RTEL1 and PCDHGB6 promoter methylation in circulating-free DNA of lung cancer patients using liquid biopsy: A pilot study.
BACH1 Orchestrates Lung Cancer Metastasis.
BACH1 Stabilization by Antioxidants Stimulates Lung Cancer Metastasis.
beta-Carotene and cigarette smoke condensate regulate heme oxygenase-1 and its repressor factor Bach1: relationship with cell growth.
Chronic intermittent hypoxia promoted lung cancer stem cell-like properties via enhancing Bach1 expression.
Genome-wide association study of familial lung cancer.
Nrf2 Activation Promotes Lung Cancer Metastasis by Inhibiting the Degradation of Bach1.
RTEL1 polymorphisms are associated with lung cancer risk in the Chinese Han population.
Telomere structure and maintenance gene variants and risk of five cancer types.
[miR-155/BACH1 Signaling Pathway in Human Lung Adenocarcinoma Cell Death Induced by Arsenic Trioxide].
Lupus Erythematosus, Systemic
Expression of DDX11 and DNM1L at the 12p11 Locus Modulates Systemic Lupus Erythematosus Susceptibility.
Lupus Nephritis
Dysregulated heme oxygenase-1low M2-like macrophages augment lupus nephritis via Bach1 induced by type I interferons.
Lymphatic Metastasis
Construction and selection of subtracted cDNA library of mouse hepatocarcinoma cell lines with different lymphatic metastasis potential.
Lymphoma
FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway.
RNAi screening uncovers Dhx9 as a modifier of ABT-737 resistance in an E?-myc/Bcl-2 mouse model.
The novel lncRNA BlackMamba controls the neoplastic phenotype of ALK- anaplastic large cell lymphoma by regulating the DNA helicase HELLS.
Lymphoma, Large-Cell, Anaplastic
The novel lncRNA BlackMamba controls the neoplastic phenotype of ALK- anaplastic large cell lymphoma by regulating the DNA helicase HELLS.
Lymphoma, Non-Hodgkin
Telomerase activity in B-cell non-Hodgkin lymphomas is regulated by hTERT transcription and correlated with telomere-binding protein expression but uncoupled from proliferation.
Malaria
Plasmodium falciparum DNA helicase 60. dsRNA- and antibody-mediated inhibition of malaria parasite growth and downregulation of its enzyme activities by DNA-interacting compounds.
Replication fork-stimulated eIF-4A from Plasmodium cynomolgi unwinds DNA in the 3' to 5' direction and is inhibited by DNA-interacting compounds.
Marfan Syndrome
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Melanoma
FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation.
Minichromosome maintenance protein expression in benign nevi, dysplastic nevi, melanoma, and cutaneous melanoma metastases.
On the interplay of telomeres, nevi and the risk of melanoma.
The DEAD/DEAH box helicase, DDX11, is essential for the survival of advanced melanomas.
Meningioma
Search for mutations of the hRAD54 gene in sporadic meningiomas with deletion at 1p32.
Microcephaly
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
The Genome Stability Maintenance DNA Helicase DDX11 and Its Role in Cancer.
Migraine Disorders
Migraine and epilepsy: A focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects.
Mitochondrial Diseases
A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Defects of mitochondrial DNA replication.
Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number.
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.
Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes.
Mitochondrial Encephalomyopathies
Revisiting mitochondrial ocular myopathies: a study from the Italian Network.
Mitochondrial Myopathies
Affection of immune cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome.
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al.
The hexameric structure of the human mitochondrial replicative helicase Twinkle.
Motor Neuron Disease
A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Muscle Weakness
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Muscular Diseases
A novel variation in the Twinkle linker region causing late-onset dementia.
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice.
Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Revisiting mitochondrial ocular myopathies: a study from the Italian Network.
Myelodysplastic Syndromes
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Myocardial Infarction
Bach1-induced suppression of angiogenesis is dependent on the BTB domain.
Ferroptosis is controlled by the coordinated transcriptional regulation of glutathione and labile iron metabolism by the transcription factor BACH1.
Twinkle overexpression prevents cardiac rupture after myocardial infarction by alleviating impaired mitochondrial biogenesis.
Neoplasm Metastasis
A Novel Therapeutic Target, BACH1, Regulates Cancer Metabolism.
A prognostic gene signature for metastasis-free survival of triple negative breast cancer patients.
Aberration of Nrf2?Bach1 pathway in colorectal carcinoma; role in carcinogenesis and tumor progression.
Associations between the Nrf2/Keap1 pathway and mitochondrial functions in colorectal cancer are affected by metastasis.
BACH1 Orchestrates Lung Cancer Metastasis.
BACH1 Promotes Pancreatic Cancer Metastasis by Repressing Epithelial Genes and Enhancing Epithelial-Mesenchymal Transition.
BACH1 promotes the progression of esophageal squamous cell carcinoma by inducing the epithelial-mesenchymal transition and angiogenesis.
BACH1 promotes the progression of human colorectal cancer through BACH1/CXCR4 pathway.
BACH1 silencing by siRNA inhibits migration of HT-29 colon cancer cells through reduction of metastasis-related genes.
BACH1 Stabilization by Antioxidants Stimulates Lung Cancer Metastasis.
BACH1, a novel master regulator of metastasis from breast to bone.
BACH1, the master regulator gene: A novel candidate target for cancer therapy.
BTB and CNC homology 1 (Bach1) promotes human ovarian cancer cell metastasis by HMGA2-mediated epithelial-mesenchymal transition.
CircBACH1/let-7a-5p axis enhances the proliferation and metastasis of colorectal cancer by upregulating CREB5 expression.
Down-Regulation of miR-129-5p and the let-7 Family in Neuroendocrine Tumors and Metastases Leads to Up-Regulation of Their Targets Egr1, G3bp1, Hmga2 and Bach1.
FBXO22, an epigenetic multiplayer coordinating senescence, hormone signaling, and metastasis.
Limited inhibition of multiple nodes in a driver network blocks metastasis.
MALAT1 and BACH1 are prognostic biomarkers for triple-negative breast cancer.
Minichromosome maintenance protein expression in benign nevi, dysplastic nevi, melanoma, and cutaneous melanoma metastases.
Network of mutually repressive metastasis regulators can promote cell heterogeneity and metastatic transitions.
Nrf2 Activation Promotes Lung Cancer Metastasis by Inhibiting the Degradation of Bach1.
Oncogenic HOXB8 is driven by MYC-regulated super-enhancer and potentiates colorectal cancer invasiveness via BACH1.
Regulatory mechanisms of heme regulatory protein BACH1: a potential therapeutic target for cancer.
Signalling pathway for RKIP and Let-7 regulates and predicts metastatic breast cancer.
Silencing of bach1 gene by small interfering RNA-mediation regulates invasive and expression level of miR-203, miR-145, matrix metalloproteinase-9, and CXCR4 receptor in MDA-MB-468 breast cancer cells.
Silencing of BACH1 inhibits invasion and migration of prostate cancer cells by altering metastasis-related gene expression.
The transcription factor BACH1 at the crossroads of cancer biology: From epithelial-mesenchymal transition to ferroptosis.
Transcriptional Network Analysis Identifies BACH1 as A Master Regulator of Breast Cancer Bone Metastasis.
Neoplasms
A cascade leading to premature aging phenotypes including abnormal tumor profiles in Werner syndrome (review).
A Novel Therapeutic Target, BACH1, Regulates Cancer Metabolism.
A prognostic gene signature for metastasis-free survival of triple negative breast cancer patients.
Aberration of Nrf2?Bach1 pathway in colorectal carcinoma; role in carcinogenesis and tumor progression.
An E2F1/DDX11/EZH2 Positive Feedback Loop Promotes Cell Proliferation in Hepatocellular Carcinoma.
Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair.
Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies.
Association between visceral adiposity and DDX11 as a predictor of aggressiveness of small clear-cell renal-cell carcinoma: a prospective clinical trial.
Association of RECQL5 gene polymorphisms and osteosarcoma in a Chinese Han population.
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells.
Associations between the Nrf2/Keap1 pathway and mitochondrial functions in colorectal cancer are affected by metastasis.
BACH family members regulate angiogenesis and lymphangiogenesis by modulating VEGFC expression.
BACH1 is a DNA repair protein supporting BRCA1 damage response.
Bach1 is critical for the transformation of mouse embryonic fibroblasts by Ras(V12) and maintains ERK signaling.
BACH1 promotes the progression of esophageal squamous cell carcinoma by inducing the epithelial-mesenchymal transition and angiogenesis.
BACH1 promotes the progression of human colorectal cancer through BACH1/CXCR4 pathway.
BACH1 Ser919Pro variant and breast cancer risk.
BACH1 silencing by siRNA inhibits migration of HT-29 colon cancer cells through reduction of metastasis-related genes.
BACH1, the master regulator gene: A novel candidate target for cancer therapy.
Bach1-mediated suppression of p53 is inhibited by p19(ARF) independently of MDM2.
Bioinformatics analysis of the transcriptional expression of minichromosome maintenance proteins as potential indicators of survival in patients with cervical cancer.
Bloom helicase explicitly unwinds 3'-tailed G4DNA structure in prostate cancer cells.
Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes.
Bovine papillomavirus type 1 E1 and simian virus 40 large T antigen share regions of sequence similarity required for multiple functions.
BRCA1 and FancJ cooperatively promote interstrand crosslinker induced centrosome amplification through the activation of polo-like kinase 1.
BRCA1-mediated repression of mutagenic end-joining of DNA double-strand breaks requires complex formation with BACH1.
BRIP1 inhibits the tumorigenic properties of cervical cancer by regulating RhoA GTPase activity.
BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.
BTB and CNC homology 1 (Bach1) promotes human ovarian cancer cell metastasis by HMGA2-mediated epithelial-mesenchymal transition.
Cancer-related mutations in BRCA1-BRCT cause long-range structural changes in protein-protein binding sites: a molecular dynamics study.
Chl1p, a DNA helicase-like protein in budding yeast, functions in sister-chromatid cohesion.
Chromosome breakage syndromes and cancer.
Chromosome instability and tumor predisposition inversely correlate with BLM protein levels.
CircBACH1/let-7a-5p axis enhances the proliferation and metastasis of colorectal cancer by upregulating CREB5 expression.
Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
DDX11 loss causes replication stress and pharmacologically exploitable DNA repair defects.
Decreased FANCJ caused by 5FU contributes to the increased sensitivity to oxaliplatin in gastric cancer cells.
Diagnosis of genito-urinary tract cancer by detection of minichromosome maintenance 5 protein in urine sediments.
Digital expression profiling identifies RUNX2, CDC5L, MDM2, RECQL4, and CDK4 as potential predictive biomarkers for neo-adjuvant chemotherapy response in paediatric osteosarcoma.
Dimerization of simian virus 40 T-antigen hexamers activates T-antigen DNA helicase activity.
DNA helicase activity of SV40 large tumor antigen.
DNA helicase and nucleoside-5'-triphosphatase activities of polyoma virus large tumor antigen.
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.
Does Bach1 & c-Myc dependent redox dysregulation of Nrf2 & adaptive homeostasis decrease cancer risk in ageing?
Does Natural Killer Cell Deficiency (NKD) Increase the Risk of Cancer? NKD May Increase the Risk of Some Virus Induced Cancer.
E2F1 mediated DDX11 transcriptional activation promotes hepatocellular carcinoma progression through PI3K/AKT/mTOR pathway.
Effect of a novel antibiotic, heliquinomycin, on DNA helicase and cell growth.
Effect of minichromosome maintenance protein 2 deficiency on the locations of DNA replication origins.
Effect of Recql5 deficiency on the intestinal tumor susceptibility of Apc(min) mice.
Effective breast cancer combination therapy targeting BACH1 and mitochondrial metabolism.
Effects of in vitro dephosphorylation on DNA-binding and DNA helicase activities of simian virus 40 large tumor antigen.
Efficacy of Acylfulvene Illudin analogues against a metastatic lung carcinoma MV522 xenograft nonresponsive to traditional anticancer agents: retention of activity against various mdr phenotypes and unusual cytotoxicity against ERCC2 and ERCC3 DNA helicase-deficient cells.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
ERCC6L promotes cell growth and invasion in human colorectal cancer.
ERCC6L, a DNA helicase, is involved in cell proliferation and associated with survival and progress in breast and kidney cancers.
Expression of Ku86 and presence of Ku86 antibody as biomarkers of hepatitis B virus related hepatocellular carcinoma.
FANCJ compensates for RAP80 deficiency and suppresses genomic instability induced by interstrand cross-links.
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.
Fanconi Anemia Complementation Group FANCD2 Protein Serine 331 Phosphorylation Is Important for Fanconi Anemia Pathway Function and BRCA2 Interaction.
Functional role of BTB and CNC Homology 1 gene in pancreatic cancer and its association with survival in patients treated with gemcitabine.
Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility.
Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis.
Genetic instability and cancer.
Getting Ready for the Dance: FANCJ Irons Out DNA Wrinkles.
HELQ reverses the malignant phenotype of osteosarcoma cells via CHK1-RAD51 signaling pathway.
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
Homozygous Wildtype of XPD K751Q Polymorphism Is Associated with Increased Risk of Nasopharyngeal Carcinoma in Malaysian Population.
hRAD54 gene and 1p high-resolution deletion-mapping analyses in oligodendrogliomas.
Human p53 directs DNA strand reassociation and is photolabelled by 8-azido ATP.
Human RTEL1 associates with Poldip3 to facilitate responses to replication stress and R-loop resolution.
Identification of putative pathogenic microRNA and its downstream targets in anaplastic lymphoma kinase-negative anaplastic large cell lymphoma.
Immunohistochemical Study of the Nrf2 Pathway in Colorectal Cancer: Nrf2 Expression is Closely Correlated to Keap1 in the Tumor and Bach1 in the Normal Tissue.
Isolation of human DNA-unwinding elements as sites of DNA polymerase alpha/primase entry.
Long noncoding RNA DDX11-AS1 induced by YY1 accelerates colorectal cancer progression through targeting miR-873/CLDN7 axis.
Loss of RBMS3 Confers Platinum-resistance in Epithelial Ovarian Cancer via Activation of miR-126-5p/?-catenin/CBP signaling.
MCM proteins as diagnostic and prognostic tumor markers in the clinical setting.
MCM3 Protein Expression in Follicular and Classical Variants of Papillary Thyroid Carcinoma.
MCM8 is regulated by EGFR signaling and promotes the growth of glioma stem cells through its interaction with DNA-replication-initiating factors.
Minichromosome maintenance protein expression in benign nevi, dysplastic nevi, melanoma, and cutaneous melanoma metastases.
miR-330 Regulates Colorectal Cancer Oncogenesis by Targeting BACH1.
Model system for DNA replication of a plasmid DNA containing the autonomously replicating sequence from Saccharomyces cerevisiae.
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.
Multiple functions of Drosophila BLM helicase in maintenance of genome stability.
Mutagenic capacity of endogenous G4 DNA underlies genome instability in FANCJ-defective C. elegans.
Mutation of the murine Bloom's syndrome gene produces global genome destabilization.
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.
Network of mutually repressive metastasis regulators can promote cell heterogeneity and metastatic transitions.
Overexpression and role of the ATPase and putative DNA helicase RuvB-like 2 in human hepatocellular carcinoma.
Overexpression of the BRIP1 ameliorates chemosensitivity to cisplatin by inhibiting Rac1 GTPase activity in cervical carcinoma HeLa cells.
Oxidative stress in Fanconi anaemia: from cells and molecules toward prospects in clinical management.
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
p53-catalyzed annealing of complementary single-stranded nucleic acids.
Partial proteolysis of simian virus 40 T antigen reveals intramolecular contacts between domains and conformation changes upon hexamer assembly.
Pif1 helicase and Pol? promote recombination-coupled DNA synthesis via bubble migration.
Prediction of High-Grade Clear Cell Renal Cell Carcinoma Based on Plasma mRNA Profiles in Patients with Localized Pathologic T1N0M0 Stage Disease.
Problem-solving test: analysis of DNA damage recognizing proteins in yeast and human cells.
Protein expression of BLM gene and its apoptosis sensitivity in hematopoietic tumor cell strains.
Proteomic and Mitochondrial Genomic Analyses of Pediatric Brain Tumors.
Recognition of model DNA replication forks by the SV40 large tumor antigen.
Regulatory mechanisms of heme regulatory protein BACH1: a potential therapeutic target for cancer.
Relationships between level of lipid peroxidation products and expression of Nrf2 and its activators/ inhibitors in non-small cell lung cancer tissue.
Role of Werner syndrome gene product helicase in carcinogenesis and in resistance to genotoxins by cancer cells.
RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.
RTEL1 maintains genomic stability by suppressing homologous recombination.
RTEL1 polymorphisms are associated with lung cancer risk in the Chinese Han population.
RTEL1: functions of a disease-associated helicase.
Search for mutations of the hRAD54 gene in sporadic meningiomas with deletion at 1p32.
shRNA knockdown of DNA helicase ERCC6L expression inhibits human breast cancer growth.
Significance of DNA Replication Licensing Proteins (MCM2, MCM5 and CDC6), p16 and p63 as Markers of Premalignant Lesions of the Uterine Cervix: Its Usefulness to Predict Malignant Potential
Silencing of bach1 gene by small interfering RNA-mediation regulates invasive and expression level of miR-203, miR-145, matrix metalloproteinase-9, and CXCR4 receptor in MDA-MB-468 breast cancer cells.
Simian virus 40 T-antigen DNA helicase is a hexamer which forms a binary complex during bidirectional unwinding from the viral origin of DNA replication.
SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.
Sorafenib and docosahexaenoic acid act in synergy to suppress cancer cell viability: a role of heme oxygenase 1.
Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex.
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling.
Suppression of Apoptosis by PIF1 Helicase in Human Tumor Cells.
Suppression of Reserve MCM Complexes Chemosensitizes to Gemcitabine and 5-Fluorouracil.
Switch on the engine: how the eukaryotic replicative helicase MCM2-7 becomes activated.
Targeting the FANCJ-BRCA1 interaction promotes a switch from recombination to poleta-dependent bypass.
Termination complex in Escherichia coli inhibits SV40 DNA replication in vitro by impeding the action of T antigen helicase.
The BRAF oncoprotein functions through the transcriptional repressor MAFG to mediate the CpG Island Methylator phenotype.
The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
The conserved core enzymatic activities and the distinct dynamics of polyomavirus large T antigens.
The DEAD/DEAH Box Helicase, DDX11, Is Essential for the Survival of Advanced Clear Cell Renal Cell Carcinoma and Is a Determinant of PARP Inhibitor Sensitivity.
The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells.
The fission yeast BLM homolog Rqh1 promotes meiotic recombination.
The Genome Stability Maintenance DNA Helicase DDX11 and Its Role in Cancer.
The Ratio of Hmox1/Nrf2 mRNA Level in the Tumor Tissue Is a Predictor of Distant Metastasis in Colorectal Cancer.
The repair gene BACH1 - a potential oncogene.
The Role of Upregulated DDX11 as A Potential Prognostic and Diagnostic Biomarker in Lung Adenocarcinoma.
The Set2-RPB1-interaction domain of human RECQ5 is important for transcription-associated genome stability.
The transcription factor BACH1 at the crossroads of cancer biology: From epithelial-mesenchymal transition to ferroptosis.
The unwinding of duplex regions in DNA by the simian virus 40 large tumor antigen-associated DNA helicase activity.
Therapeutic effects of bach1 siRNA on human breast adenocarcinoma cell line.
Unraveling a connection between DNA demethylation repair and cancer.
Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins.
XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.
Nephrolithiasis
Does twinkle artifact truly represent a kidney stone on renal ultrasound?
Nervous System Diseases
A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.
Sen1p contributes to genomic integrity by regulating expression of ribonucleotide reductase 1 (RNR1) in Saccharomyces cerevisiae.
Neuroblastoma
Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers.
Differentiation impairs Bach1 dependent HO-1 activation and increases sensitivity to oxidative stress in SH-SY5Y neuroblastoma cells.
Neurodegenerative Diseases
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.
Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.
Senataxin: A New Guardian of the Female Germline Important for Delaying Ovarian Aging.
Neuroendocrine Tumors
Down-Regulation of miR-129-5p and the let-7 Family in Neuroendocrine Tumors and Metastases Leads to Up-Regulation of Their Targets Egr1, G3bp1, Hmga2 and Bach1.
Neurologic Manifestations
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?
Neuromuscular Diseases
The Human Mitochondrial DNA helicase TWINKLE is both an unwinding and an annealing helicase.
Nevus
Minichromosome maintenance protein expression in benign nevi, dysplastic nevi, melanoma, and cutaneous melanoma metastases.
On the interplay of telomeres, nevi and the risk of melanoma.
Non-alcoholic Fatty Liver Disease
Hepatocyte-specific sirtuin 6 deletion predisposes to nonalcoholic steatohepatitis by up-regulation of Bach1, an Nrf2 repressor.
Obesity
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Ophthalmoplegia
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.
Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk.
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
SANDO: Two novel mutations in POLG1 gene.
Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art.
Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?
Ophthalmoplegia, Chronic Progressive External
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.
A novel variation in the Twinkle linker region causing late-onset dementia.
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.
C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome.
Clinical and molecular features of adPEO due to mutations in the Twinkle gene.
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells.
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
Extraocular Muscle Reveals Selective Vulnerability of Type IIB Fibers to Respiratory Chain Defects Induced by Mitochondrial DNA Alterations.
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagia.
Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.
Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.
Orthostatic Tremor, Progressive External Ophthalmoplegia, and Twinkle.
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis.
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Reconstitution of a minimal mtDNA replisome in vitro.
Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.
Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia.
Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.
The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function.
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein.
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art.
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes.
[Mitochondrial dysfunction in bipolar disorder]
Osteoarthritis
Bach1 deficiency reduces severity of osteoarthritis through upregulation of heme oxygenase-1.
Osteoporosis
Bach1 Inhibition Suppresses Osteoclastogenesis via Reduction of the Signaling via Reactive Oxygen Species by Reinforced Antioxidation.
Downregulation of Bach1 protects osteoblasts against hydrogen peroxide-induced oxidative damage in vitro by enhancing the activation of Nrf2/ARE signaling.
RANKL induces Bach1 nuclear import and attenuates Nrf2-mediated antioxidant enzymes, thereby augmenting intracellular reactive oxygen species signaling and osteoclastogenesis in mice.
Osteosarcoma
Circ_0081001 down-regulates miR-494-3p to enhance BACH1 expression and promotes osteosarcoma progression.
Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers.
DDX11-AS1 contributes to osteosarcoma progression via stabilizing DDX11.
The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
Ovarian Neoplasms
Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovarian Carcinoma: Their Expression and Clinical Significance.
BACH1 Ser919Pro variant and breast cancer risk.
BTB and CNC homology 1 (Bach1) promotes human ovarian cancer cell metastasis by HMGA2-mediated epithelial-mesenchymal transition.
Cancer-associated mutations in the iron-sulfur domain of FANCJ affect G-quadruplex metabolism.
Chl1 DNA Helicase Regulates Scc2 Deposition Specifically during DNA-Replication in Saccharomyces cerevisiae.
Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
CtIP- and ATR-dependent FANCJ phosphorylation in response to DNA strand breaks mediated by DNA replication.
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.
FANCJ helicase promotes DNA end resection by facilitating CtIP recruitment to DNA double-strand breaks.
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics.
HP1 regulates the localization of FANCJ at sites of DNA double-strand breaks.
Insight into the Roles of Helicase Motif Ia by Characterizing Fanconi Anemia Group J Protein (FANCJ) Patient Mutations.
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
Mutational analysis of FANCJ helicase.
No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families.
Opposing Roles of FANCJ and HLTF Protect Forks and Restrain Replication during Stress.
RECQL1 DNA Repair Helicase: A Potential Therapeutic Target and a Proliferative Marker against Ovarian Cancer.
Structure-function analysis of DNA helicase HELQ: A new diagnostic marker in ovarian cancer.
The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.
Pancreatic Neoplasms
BACH1 Promotes Pancreatic Cancer Metastasis by Repressing Epithelial Genes and Enhancing Epithelial-Mesenchymal Transition.
Papilloma
The E1 protein of bovine papilloma virus 1 is an ATP-dependent DNA helicase.
Parkinson Disease
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?
Parkinsonian Disorders
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression.
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK.
Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art.
Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?
Periodontitis
BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1.
Bach1 Inhibition Suppresses Osteoclastogenesis via Reduction of the Signaling via Reactive Oxygen Species by Reinforced Antioxidation.
Peripheral Arterial Disease
Bach1 plays an important role in angiogenesis through regulation of oxidative stress.
Peripheral Nervous System Diseases
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Polyneuropathies
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Progeria
Association of epigenetic inactivation of the WRN gene with anticancer drug sensitivity in cervical cancer cells.
p38 (MAPK) stress signalling in replicative senescence in fibroblasts from progeroid and genomic instability syndromes.
Prostatic Neoplasms
Genetic variants in RTEL1 influencing telomere length are associated with prostate cancer risk.
Silencing of BACH1 inhibits invasion and migration of prostate cancer cells by altering metastasis-related gene expression.
Protein Deficiency
Effect of minichromosome maintenance protein 2 deficiency on the locations of DNA replication origins.
Pulmonary Disease, Chronic Obstructive
Association between RTEL1 gene polymorphisms and COPD susceptibility in a Chinese Han population.
Expression of nuclear factor erythroid-2-related factor 2, broad complex-tramtrack-bric a brac and Cap'n'collar homology 1 and ?-glutamic acid cysteine synthase in peripheral blood of patients with chronic obstructive pulmonary disease and its clinical significance.
miR-330 Regulates Colorectal Cancer Oncogenesis by Targeting BACH1.
Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene.
Pulmonary Fibrosis
Bach1 siRNA attenuates bleomycin-induced pulmonary fibrosis by modulating oxidative stress in mice.
BTB and CNC homology 1 inhibition ameliorates fibrosis and inflammation via blocking ERK pathway in pulmonary fibrosis.
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Pirfenidone attenuates bleomycin-induced pulmonary fibrosis in mice by regulating Nrf2/Bach1 equilibrium.
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Telomeres revisited: RTEL1 variants in pulmonary fibrosis.
The molecular genetics of the telomere biology disorders.
Rectal Neoplasms
miR-330 Regulates Colorectal Cancer Oncogenesis by Targeting BACH1.
Reperfusion Injury
MiR-27a-5p regulates apoptosis of liver ischemia-reperfusion injury in mice by targeting Bach1.
Regulation of heme oxygenase-1 by transcription factor Bach1 in the mouse brain.
Respiratory Insufficiency
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Rheumatic Diseases
Clinical and serological associations of autoantibodies to the Ku70/Ku80 heterodimer determined by a novel chemiluminescent immunoassay.
Rothmund-Thomson Syndrome
Drosophila melanogaster RECQ5/QE DNA helicase: stimulation by GTP binding.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase.
Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity.
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
Scleroderma, Systemic
Altered MCM Protein Levels and Autophagic Flux in Aged and Systemic Sclerosis Dermal Fibroblasts.
Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis.
Scotoma
Illusory stimuli can be used to identify retinal blind spots.
Sick Sinus Syndrome
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Skin Diseases
Cannabidiol induces antioxidant pathways in keratinocytes by targeting BACH1.
Skin Neoplasms
FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation.
G364R mutation of MCM4 detected in human skin cancer cells affects DNA helicase activity of MCM4/6/7 complex.
Spinal Cord Injuries
Genetic Ablation of Transcription Repressor Bach1 Reduces Neural Tissue Damage and Improves Locomotor Function after Spinal Cord Injury in Mice.
Spinocerebellar Ataxias
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
Identification of a novel twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Recessive twinkle mutations cause severe epileptic encephalopathy.
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
Squamous Cell Carcinoma of Head and Neck
Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma.
Starvation
Genome-wide array-CGH analysis reveals YRF1 gene copy number variation that modulates genetic stability in distillery yeasts.
Mitochondrial and nuclear localization of human Pif1 helicase.
Stomach Neoplasms
Decreased FANCJ caused by 5FU contributes to the increased sensitivity to oxaliplatin in gastric cancer cells.
Recurrent amplification of RTEL1 and ABCA13 and its synergistic effect associated with clinicopathological data of gastric adenocarcinoma.
The long non-coding RNA DDX11-AS1 facilitates cell progression and oxaliplatin resistance via regulating miR-326/IRS1 axis in gastric cancer.
Tetralogy of Fallot
The expanding phenotypes of cohesinopathies: one ring to rule them all!
thymidine kinase deficiency
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
Thymoma
BTB and CNC homology 1 inhibition ameliorates fibrosis and inflammation via blocking ERK pathway in pulmonary fibrosis.
Tremor
Orthostatic Tremor, Progressive External Ophthalmoplegia, and Twinkle.
Trichothiodystrophy Syndromes
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
DNA helicases associated with genetic instability, cancer, and aging.
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.
Premature aging in mice deficient in DNA repair and transcription.
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases.
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.
XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.
Triple Negative Breast Neoplasms
MALAT1 and BACH1 are prognostic biomarkers for triple-negative breast cancer.
Tuberculosis
Association between common telomere length genetic variants and telomere length in an African population and impacts of HIV and TB.
Characterization of physical interaction between replication initiator protein DnaA and replicative helicase from Mycobacterium tuberculosis H37Rv.
Enzymatic activities and DNA substrate specificity of Mycobacterium tuberculosis DNA helicase XPB.
Hexameric ring structure of the N-terminal domain of Mycobacterium tuberculosis DnaB helicase.
Mycobacterium tuberculosis UvrB is a robust DNA-stimulated ATPase that also possesses structure-specific ATP-dependent DNA helicase activity.
Urolithiasis
Bladder stone: "Must know" ultrasonographic signs.
Uterine Cervical Neoplasms
Bioinformatics analysis of the transcriptional expression of minichromosome maintenance proteins as potential indicators of survival in patients with cervical cancer.
First evidence for the contribution of the genetic variations of BRCA1-interacting protein 1 (BRIP1) to the genetic susceptibility of cervical cancer.
PIF1 Affects the Proliferation and Apoptosis of Cervical Cancer Cells by Influencing TERT.
Proteomic alterations in early stage cervical cancer.
Vaccinia
Stimulation of vaccinia virion DNA helicase I8R, but not A18R, by a vaccinia core protein L4R, an ssDNA binding protein.
The vaccinia virus A18R DNA helicase is a postreplicative negative transcription elongation factor.
Vaccinia virion protein I8R has both DNA and RNA helicase activities: implications for vaccinia virus transcription.
Vaccinia virus gene A18R DNA helicase is a transcript release factor.
Vaccinia virus gene A18R encodes an essential DNA helicase.
Vascular Diseases
Bach1 Induces Endothelial Cell Apoptosis and Cell-Cycle Arrest through ROS Generation.
Virus Diseases
The origin-binding domain of the herpes simplex virus type 1 UL9 protein is not required for DNA helicase activity.
Werner Syndrome
A cascade leading to premature aging phenotypes including abnormal tumor profiles in Werner syndrome (review).
A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology.
A conserved and species-specific functional interaction between the Werner syndrome-like exonuclease atWEX and the Ku heterodimer in Arabidopsis.
Analysis of the Xenopus Werner syndrome protein in DNA double-strand break repair.
Biochemical and kinetic characterization of the DNA helicase and exonuclease activities of werner syndrome protein.
Biochemical characterization of an exonuclease from Arabidopsis thaliana reveals similarities to the DNA exonuclease of the human Werner syndrome protein.
BLM is an early responder to DNA double-strand breaks.
C. elegans orthologs MUT-7/CeWRN-1 of Werner syndrome protein regulate neuronal plasticity.
Characterization of the nuclear localization signal in the DNA helicase involved in Werner's syndrome.
Characterization of Werner syndrome protein DNA helicase activity: directionality, substrate dependence and stimulation by replication protein A.
Chromosome breakage syndromes and cancer.
Cognitive deficit in hippocampal-dependent tasks in Werner syndrome mouse model.
Crosstalk among DNA Damage, Mitochondrial Dysfunction, Impaired Mitophagy, Stem Cell Attrition, and Senescence in the Accelerated Ageing Disorder Werner Syndrome.
Detection by epitope-defined monoclonal antibodies of Werner DNA helicases in the nucleoplasm and their upregulation by cell transformation and immortalization.
Diagnosis of Werner syndrome by immunoblot analysis.
DNA damage-induced translocation of the Werner helicase is regulated by acetylation.
DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system.
Down regulation of miR-124 in both Werner syndrome DNA helicase mutant mice and mutant Caenorhabditis elegans wrn-1 reveals the importance of this microRNA in accelerated aging.
Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients.
Genetic analysis of the Saccharomyces cerevisiae Sgs1 helicase defines an essential function for the Sgs1-Top3 complex in the absence of SRS2 or TOP1.
Human werner syndrome DNA helicase unwinds tetrahelical structures of the fragile X syndrome repeat sequence d(CGG)n.
Human WRN is an intrinsic inhibitor of progerin, abnormal splicing product of lamin A.
Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures.
Investigation of the core binding regions of human Werner syndrome and Fanconi anemia group J helicases on replication protein A.
Loss of Bloom syndrome protein destabilizes human gene cluster architecture.
Metabolic and Phenotypic Differences between Mice Producing a Werner Syndrome Helicase Mutant Protein and Wrn Null Mice.
Mutations induced by 8-oxo-7,8-dihydroguanine in WRN- and DNA polymerase ?-double knockdown cells.
NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome.
Nonfunctional mutant Wrn protein leads to neurological deficits, neuronal stress, microglial alteration, and immune imbalance in a mouse model of Werner syndrome.
Nuclear DNA helicase II (RNA helicase A) interacts with Werner syndrome helicase and stimulates its exonuclease activity.
p38 (MAPK) stress signalling in replicative senescence in fibroblasts from progeroid and genomic instability syndromes.
Reduction of Werner syndrome protein enhances G:C-->A:T transition by O
Requirement of yeast SGS1 and SRS2 genes for replication and transcription.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Serum vitamin C levels modulate the lifespan and endoplasmic reticulum stress response pathways in mice synthesizing a nonfunctional mutant WRN protein.
Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis.
Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases.
Telomere repeat DNA forms a large non-covalent complex with unique cohesive properties which is dissociated by Werner syndrome DNA helicase in the presence of replication protein A.
The Saccharomyces cerevisiae WRN homolog Sgs1p participates in telomere maintenance in cells lacking telomerase.
The Werner syndrome helicase/exonuclease (WRN) disrupts and degrades D-loops in vitro.
The Werner syndrome protein binds replication fork and holliday junction DNAs as an oligomer.
The Werner syndrome protein contributes to induction of p53 by DNA damage.
The Werner syndrome protein is a DNA helicase.
Vitamin C alters the amount of specific endoplasmic reticulum associated proteins involved in lipid metabolism in the liver of mice synthesizing a nonfunctional Werner syndrome (Wrn) mutant protein.
Werner syndrome (WRN) DNA helicase and base excision repair (BER) factors maintain endothelial homeostasis.
Werner syndrome gene variants in human sarcomas.
Werner syndrome helicase (WRN), nuclear DNA helicase II (NDH II) and histone gammaH2AX are localized to the centrosome.
Werner syndrome protein prevents DNA breaks upon chromatin structure alteration.
Werner syndrome protein. I. DNA helicase and dna exonuclease reside on the same polypeptide.
Werner syndrome protein. II. Characterization of the integral 3' --> 5' DNA exonuclease.
What can we learn from Werner syndrome? A biased view from a rheumatologist.
[Biological functions of DNA helicase responsible for Werner syndrome]
[Werner's syndrome and endocrine disorders]
Xeroderma Pigmentosum
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
Ciao1 interacts with Crumbs and Xpd to regulate organ growth in Drosophila.
Cloning of a cDNA from Arabidopsis thaliana homologous to the human XPB gene.
Conformational effects of a common codon 751 polymorphism on the C-terminal domain of the xeroderma pigmentosum D protein.
Differential developmental expression of the rep B and rep D xeroderma pigmentosum related DNA helicase genes from Dictyostelium discoideum.
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.
DNA helicases associated with genetic instability, cancer, and aging.
Effect of polymorphisms in XPD on clinical outcomes of platinum-based chemotherapy for Chinese non-small cell lung cancer patients.
ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review.
Evidence for sub-functionalization of tandemly duplicated XPB nucleotide excision repair genes in Arabidopsis thaliana.
Genetic variation in XPD predicts treatment outcome and risk of acute myeloid leukemia following chemotherapy.
Homozygous Wildtype of XPD K751Q Polymorphism Is Associated with Increased Risk of Nasopharyngeal Carcinoma in Malaysian Population.
Human JC virus small tumour antigen inhibits nucleotide excision repair and sensitises cells to DNA-damaging agents.
Human xeroderma pigmentosum group D gene encodes a DNA helicase.
Mutational analysis of ERCC3, which is involved in DNA repair and transcription initiation: identification of domains essential for the DNA repair function.
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.
Nucleotide excision repair is a potential therapeutic target in multiple myeloma.
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases.
Telomere attrition and genomic instability in xeroderma pigmentosum type-B deficient fibroblasts under oxidative stress.
The Association of the Xeroderma Pigmentosum Group D DNA Helicase (XPD) with Transcription Factor IIH Is Regulated by the Cytosolic Iron-Sulfur Cluster Assembly Pathway.
The DNA helicases acting in nucleotide excision repair, XPD, CSB and XPB, are not required for PCNA-dependent repair of abasic sites.
The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity.
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.