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Disease on EC 5.6.2.4 - DNA 3'-5' helicase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acquired Immunodeficiency Syndrome
The B. subtilis Accessory Helicase PcrA Facilitates DNA Replication through Transcription Units.
Adenocarcinoma
Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival.
Werner's syndrome as a hereditary risk factor for exocrine pancreatic cancer: Potential role of WRN in pancreatic tumorigenesis and patient-tailored therapy.
Adrenal Insufficiency
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Alopecia
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
alpha-Thalassemia
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
Alzheimer Disease
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease.
Anemia
Identification of the NLS and NES motifs of VP2 from chicken anemia virus and the interaction of VP2 with mini-chromosome maintenance protein 3.
Ataxia Telangiectasia
ATM activation is impaired in human cells defective in RecQL4 helicase activity.
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins.
Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts.
RECQ1 helicase is involved in replication stress survival and drug resistance in multiple myeloma.
The interaction between checkpoint kinase 1 (Chk1) and the minichromosome maintenance (MCM) complex is required for DNA damage-induced Chk1 phosphorylation.
Atherosclerosis
Liver Aging and Pseudocapillarization in a Werner Syndrome Mouse Model.
Bloom Syndrome
A major role for mitotic CDC2 kinase inactivation in the establishment of the mitotic DNA damage checkpoint.
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
A positive involvement of RecQL4 in UV-induced S-phase arrest.
A role for PML and the nuclear body in genomic stability.
A small molecule inhibitor of the BLM helicase modulates chromosome stability in human cells.
Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer.
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
Analysis of m6A RNA Methylation-Related Genes in Liver Hepatocellular Carcinoma and Their Correlation with Survival.
Analysis of the DNA unwinding activity of RecQ family helicases.
Association of BLM and BRCA1 during Telomere Maintenance in ALT Cells.
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells.
ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation.
Binding specificity determines polarity of DNA unwinding by the Sgs1 protein of S. cerevisiae.
BLM helicase facilitates Mus81 endonuclease activity in human cells.
BLM helicase stimulates the ATPase and chromatin-remodeling activities of RAD54.
BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes.
BLM helicase-dependent and -independent roles of 53BP1 during replication stress-mediated homologous recombination.
BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.
BLM promotes the activation of Fanconi Anemia signaling pathway.
BLM unfolds G-quadruplexes in different structural environments through different mechanisms.
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks.
Bloom syndrome ortholog HIM-6 maintains genomic stability in C. elegans.
Bloom Syndrome Protein Activates AKT and PRAS40 in Prostate Cancer Cells.
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.
Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition.
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein.
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
Chk1-dependent constitutive phosphorylation of BLM helicase at serine 646 decreases after DNA damage.
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
Collaborating functions of BLM and DNA topoisomerase I in regulating human rDNA transcription.
Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding.
Critical interaction domains between bloom syndrome protein and RAD51.
Deficiency of bloom syndrome helicase activity is radiomimetic.
Defining the roles of the N-terminal region and the helicase activity of RECQ4A in DNA repair and homologous recombination in Arabidopsis.
Delineation of WRN helicase function with EXO1 in the replicational stress response.
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.
Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.
Discovery of Isaindigotone Derivatives as Novel Bloom's Syndrome Protein (BLM) Helicase Inhibitors That Disrupt the BLM/DNA Interactions and Regulate the Homologous Recombination Repair.
DNA End Resection: Facts and Mechanisms.
DNA helicases, genomic instability, and human genetic disease.
DNA2-An Important Player in DNA Damage Response or Just Another DNA Maintenance Protein?
Does BLM helicase unwind nucleosomal DNA?
Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing.
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins.
Enzymatic mechanism of the WRN helicase/nuclease.
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease.
Formation of deletions during double-strand break repair in Drosophila DmBlm mutants occurs after strand invasion.
Function of recQ family helicase in genome stability.
Functional interaction of p53 and BLM DNA helicase in apoptosis.
Genetic Manipulation of Homologous Recombination In Vivo Attenuates Intestinal Tumorigenesis.
Helicase activity is only partially required for Schizosaccharomyces pombe Rqh1p function.
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.
Human RecQ Helicases in DNA Double-Strand Break Repair.
Human RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capability.
In vivo analysis of Drosophila BLM helicase function during DNA double-strand gap repair.
Inhibition of unwinding of G-quadruplex structures by Sgs1 helicase in the presence of N,N'-bis[2-(1-piperidino)ethyl]-3,4,9,10-perylenetetracarboxylic diimide, a G-quadruplex-interactive ligand.
Interaction of replication protein A with two acidic peptides from human Bloom syndrome protein.
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells.
Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification.
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Loss of Bloom syndrome protein destabilizes human gene cluster architecture.
Microhomology-mediated End Joining and Homologous Recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells.
miR-522-3p promotes tumorigenesis in human colorectal cancer via targeting bloom syndrome protein.
Multiple genetic pathways involving the Caenorhabditis elegans Bloom's syndrome genes him-6, rad-51, and top-3 are needed to maintain genome stability in the germ line.
NMR Investigation of the Interaction between the RecQ C-Terminal Domain of Human Bloom Syndrome Protein and G-Quadruplex DNA from the Human c-Myc Promoter.
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
Nucleolar localization of the Werner syndrome protein in human cells.
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases.
PML is critical for ND10 formation and recruits the PML-interacting protein daxx to this nuclear structure when modified by SUMO-1.
Possible anti-recombinogenic role of Bloom's syndrome helicase in double-strand break processing.
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 and enzymatic characterization of Gallus gallus BLM helicase.
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome.
Recognition and Unfolding of c-MYC and Telomeric G-Quadruplex DNAs by the RecQ C-Terminal Domain of Human Bloom Syndrome Helicase.
Recombination-mediated lengthening of terminal telomeric repeats requires the Sgs1 DNA helicase.
Recombinational DNA repair and human disease.
RECQ DNA helicases and osteosarcoma.
RECQ DNA Helicases and Osteosarcoma.
RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells.
RecQ helicase BLM regulates prostate cancer cell proliferation and apoptosis.
RecQ helicases: guardian angels of the DNA replication fork.
RecQ helicases: suppressors of tumorigenesis and premature aging.
Regulation and localization of the Bloom syndrome protein in response to DNA damage.
Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription.
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.
Resolution of ROS-induced G-quadruplexes and R-loops at transcriptionally active sites is dependent on BLM helicase.
RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability.
RMI1 contributes to DNA repair and to the tolerance to camptothecin.
Role of the BLM helicase in replication fork management.
Roles of the Bloom's syndrome helicase in the maintenance of genome stability.
Roles of Werner syndrome protein in protection of genome integrity.
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Selective cleavage of BLM, the bloom syndrome protein, during apoptotic cell death.
Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.
Small Ubiquitin-related Modifier (SUMO) Binding Determines Substrate Recognition and Paralog-selective SUMO Modification.
Solution structure of the HRDC domain of human Bloom syndrome protein BLM.
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein.
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.
Structural and functional characterization of the N-terminal domain of human Rad51D.
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.
Structural mechanisms of human RecQ helicases WRN and BLM.
Structure and function of the regulatory HRDC domain from human Bloom syndrome protein.
Structure of the RecQ C-terminal domain of human Bloom syndrome protein.
Super-resolution mapping of cellular double-strand break resection complexes during homologous recombination.
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel SUMO target proteins and acceptor lysines relevant for genome stability.
Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases.
The arginine finger of the Bloom syndrome protein: its structural organization and its role in energy coupling.
The Bloom Syndrome Protein BLM Is Selectively Cleaved during Apoptotic Cell Death.
The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control.
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency.
The Bloom's syndrome gene product is a 3'-5' DNA helicase.
The Bloom's syndrome helicase (BLM) interacts physically and functionally with p12, the smallest subunit of human DNA polymerase delta.
The Bloom's syndrome helicase promotes the annealing of complementary single-stranded DNA.
The Bloom's syndrome helicase suppresses crossing over during homologous recombination.
The Bloom's syndrome helicase unwinds G4 DNA.
The human WRN and BLM RecQ helicases differentially regulate cell proliferation and survival after chemotherapeutic DNA damage.
The N-terminal internal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1.
The N-terminal region of the Schizosaccharomyces pombe RecQ helicase, Rqh1p, physically interacts with Topoisomerase III and is required for Rqh1p function.
The nuclease FAN1 is involved in DNA crosslink repair in Arabidopsis thaliana independently of the nuclease MUS81.
The Nucleo-cytoplasmic actin-binding protein CapG lacks a nuclear export sequence present in structurally related proteins.
The RecQ helicase Sgs1 drives ATP-dependent disruption of Rad51 filaments.
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures.
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.
Time to bloom.
Uncovering an allosteric mode of action for a selective inhibitor of human Bloom syndrome protein.
Vpu modulates DNA repair to suppress innate sensing and hyper-integration of HIV-1.
Werner's syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest.
Withdrawal: Selective cleavage of BLM, the Bloom syndrome protein, during apoptotic cell death.
Yeast as a model system to study RecQ helicase function.
[DNA helicases and human diseases]
Bone Diseases, Metabolic
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
Bone Marrow Failure Disorders
ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
Werner syndrome helicase has a critical role in DNA damage responses in the absence of a functional fanconi anemia pathway.
Brain Neoplasms
DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma.
Breast Neoplasms
A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women.
A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice.
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Camptothecin targets WRN protein: mechanism and relevance in clinical breast cancer.
Catalytic strand separation by RECQ1 is required for RPA-mediated response to replication stress.
Distinct prognosis of mRNA expression of the five RecQ DNA-helicase family members - RECQL, BLM, WRN, RECQL4, and RECQL5 - in patients with breast cancer.
Embryonic stem cells deficient for Brca2 or Blm exhibit divergent genotoxic profiles that support opposing activities during homologous recombination.
Genetic screen for chromosome instability in mice: Mcm4 and breast cancer.
Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.
Identification of RECQ1-regulated transcriptome uncovers a role of RECQ1 in regulation of cancer cell migration and invasion.
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
Prognostic significance of minichromosome maintenance proteins in breast cancer.
RECQ1 expression is upregulated in response to DNA damage and in a p53-dependent manner.
RECQ1 Helicase in Genomic Stability and Cancer.
RecQL4 helicase amplification is involved in human breast tumorigenesis.
RECQL4 helicase has oncogenic potential in sporadic breast cancers.
Screening antiproliferative drug for breast cancer from bisbenzylisoquinoline alkaloid tetrandrine and fangchinoline derivatives by targeting BLM helicase.
Site-directed mutants of human RECQ1 reveal functional importance of the zinc binding domain.
The DNA repair helicase RECQ1 has a checkpoint-dependent role in mediating DNA damage responses induced by gemcitabine.
The prognostic significance of Cdc6 and Cdt1 in breast cancer.
The synthetic antihyperlipidemic drug potassium piperate selectively kills breast cancer cells through inhibiting G1-S-phase transition and inducing apoptosis.
Werner Syndrome Protein Expression in Breast Cancer.
[Preparation, characterization and application of monoclonal antibody against RecQ helicase].
Carcinogenesis
Comparison of proliferation and genomic instability responses to WRN silencing in hematopoietic HL60 and TK6 cells.
Decreased RECQL5 correlated with disease progression of osteosarcoma.
DNA Damage, Liver Injury, and Tumorigenesis: Consequences of DDX3X Loss.
DNA end resection controls the balance between homologous and illegitimate recombination in Escherichia coli.
Human RecQL4 Helicase Plays Critical Roles in Prostate Carcinogenesis.
Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Involvement of WRN helicase in immortalization and tumorigenesis by the telomeric crisis pathway (Review).
MCM7 amplification and overexpression promote cell proliferation, colony formation and migration in esophageal squamous cell carcinoma by activating the AKT1/mTOR signaling pathway.
miR-522-3p promotes tumorigenesis in human colorectal cancer via targeting bloom syndrome protein.
Myc and the Replicative CMG Helicase: The Creation and Destruction of Cancer: Myc Over-Activation of CMG Helicases Drives Tumorigenesis and Creates a Vulnerability in CMGs for Therapeutic Intervention.
Nuclear DNA helicase II (RNA helicase A) interacts with Werner syndrome helicase and stimulates its exonuclease activity.
RECQ DNA helicases and osteosarcoma.
RECQ DNA Helicases and Osteosarcoma.
RecQ helicases and genome stability: lessons from model organisms and human disease.
RECQ1 Helicase in Genomic Stability and Cancer.
RecQL4 helicase amplification is involved in human breast tumorigenesis.
RECQL4 helicase has oncogenic potential in sporadic breast cancers.
Role for the Werner syndrome protein in the promotion of tumor cell growth.
Role of DNA damage response pathways in preventing carcinogenesis caused by intrinsic replication stress.
The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining.
The level of RECQL1 expression is a prognostic factor for epithelial ovarian cancer.
The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.
The structural and functional characterization of human RecQ4 reveals insights into its helicase mechanism.
The Werner syndrome helicase protein is required for cell proliferation, immortalization, and tumorigenesis in Scaffold Attachment Factor B1 deficient mice.
Unique and important consequences of RECQ1 deficiency in mammalian cells.
Carcinoma
Adult respiratory papillomatosis: human papillomavirus type and viral coinfections as predictors of prognosis.
Analysis of oral papillomas, leukoplakias, and invasive carcinomas for human papillomavirus type related DNA.
Deletions of N33, STK11 and TP53 are involved in the development of lymph node metastasis in larynx and pharynx carcinomas.
Genetic model of transformation and neoplastic progression in laryngeal epithelium.
Human papilloma virus (HPV) infections related to cervical intraepithelial neoplasia (CIN) and squamous cell carcinoma of the uterine cervix.
Human papillomavirus (HPV) infections of the female genital tract and their associations with intraepithelial neoplasia and squamous cell carcinoma.
Human papillomavirus and host variables as predictors of clinical course in patients with juvenile-onset recurrent respiratory papillomatosis.
Human papillomavirus in penile squamous cell lesions. A comparison of an isotopic RNA and two commercial nonisotopic DNA in situ hybridization methods.
Identification of the DNA Replication Regulator MCM Complex Expression and Prognostic Significance in Hepatic Carcinoma.
Next-generation sequencing identifies recurrent copy number variations in invasive breast carcinomas from Ghana.
Nucleolar localization of the Werner syndrome protein in human cells.
RECQL4 regulates DNA damage response and redox homeostasis in esophageal cancer.
Warty Carcinoma of Bladder Containing HPV Type 11.
[Urethral condyloma acuminatum with severe dysplasia in a male patient detected human papillomavirus type 11: a case report]
Carcinoma in Situ
Human papillomavirus in penile squamous cell lesions. A comparison of an isotopic RNA and two commercial nonisotopic DNA in situ hybridization methods.
Carcinoma, Bronchogenic
Malignant tumours in patients with a history of multiple laryngeal papillomas: the significance of irradiation.
Carcinoma, Hepatocellular
Increased expression of MCM4 is associated with poor prognosis in patients with hepatocellular carcinoma.
Upregulation of RECQL4 expression predicts poor prognosis in hepatocellular carcinoma.
Carcinoma, Non-Small-Cell Lung
Effects of RECQ1 helicase silencing on non-small cell lung cancer cells.
Carcinoma, Squamous Cell
Adult respiratory papillomatosis: human papillomavirus type and viral coinfections as predictors of prognosis.
Human papillomavirus in penile squamous cell lesions. A comparison of an isotopic RNA and two commercial nonisotopic DNA in situ hybridization methods.
Cataract
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.
The etiology of osteosarcoma.
Cholera
CTX?: Exploring new alternatives in host factor-mediated filamentous phage replications.
Coinfection
Adeno-associated virus small rep proteins are modified with at least two types of polyubiquitination.
Colonic Neoplasms
Interaction between RAD51 and MCM Complex Is Essential for RAD51 Foci Forming in Colon Cancer HCT116 Cells.
Colorectal Neoplasms
Altered RECQ Helicase Expression in Sporadic Primary Colorectal Cancers.
miR-522-3p promotes tumorigenesis in human colorectal cancer via targeting bloom syndrome protein.
Patient-Derived Xenografts and Matched Cell Lines Identify Pharmacogenomic Vulnerabilities in Colorectal Cancer.
WRN Promoter CpG Island Hypermethylation Does Not Predict More Favorable Outcomes for Patients with Metastatic Colorectal Cancer Treated with Irinotecan-Based Therapy.
Condylomata Acuminata
Human papillomavirus in penile squamous cell lesions. A comparison of an isotopic RNA and two commercial nonisotopic DNA in situ hybridization methods.
Identification of human papillomavirus types in male urethral condylomata acuminata by in situ hybridization.
Congenital Abnormalities
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.
Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
Contracture
Nationwide survey of Baller?Gerold syndrome in Japanese population.
Craniosynostoses
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.
Genetic basis of potential therapeutic strategies for craniosynostosis.
RECQL4 Regulates p53 Function in vivo During Skeletogenesis.
Cysts
Determination of potential cellular proliferation in the odontogenic epithelia of the dental follicle of the asymptomatic impacted third molars.
Dengue
Dengue Virus Capsid Interacts with DDX3X-A Potential Mechanism for Suppression of Antiviral Functions in Dengue Infection.
Diabetic Nephropathies
ACE, PAI-1, decorin and Werner helicase genes are not associated with the development of renal disease in European patients with type 1 diabetes.
dna 3'-5' helicase deficiency
Aberrantly Expressed RECQL4 Helicase Supports Proliferation and Drug Resistance of Human Glioma Cells and Glioma Stem Cells.
Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.
Elevated telomere-telomere recombination in WRN-deficient, telomere dysfunctional cells promotes escape from senescence and engagement of the ALT pathway.
Human premature aging, DNA repair and RecQ helicases.
Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
Human RECQ5 helicase promotes repair of DNA double-strand breaks by synthesis-dependent strand annealing.
Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase.
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome.
RECQ1 interacts with FEN-1 and promotes binding of FEN-1 to telomeric chromatin.
RecQL4 regulates autophagy and apoptosis in U2OS cells.
The RecQ helicase Sgs1 drives ATP-dependent disruption of Rad51 filaments.
Unique and important consequences of RECQ1 deficiency in mammalian cells.
WRN regulates pathway choice between classical and alternative non-homologous end joining.
[Role of RecQ5 in syncytial blastoderm of the Drosophila embryo].
dna 5'-3' helicase deficiency
Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under Replication of DNA.
Dwarfism
A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation.
Dysplastic Nevus Syndrome
On the interplay of telomeres, nevi and the risk of melanoma.
Esophageal Neoplasms
RECQL4 regulates DNA damage response and redox homeostasis in esophageal cancer.
Esophageal Squamous Cell Carcinoma
RECQL4 regulates DNA damage response and redox homeostasis in esophageal cancer.
Exanthema
The etiology of osteosarcoma.
Fanconi Anemia
Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress.
Interaction of the Human Papillomavirus E1 Helicase with UAF1-USP1 Promotes Unidirectional Theta Replication of Viral Genomes.
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
Novel function of the Fanconi anemia group J or RECQ1 helicase to disrupt protein-DNA complexes in a replication protein A-stimulated manner.
Parallel genome-wide screens identify synthetic viable interactions between the BLM helicase complex and Fanconi anemia.
Proliferation of Double-Strand Break-Resistant Polyploid Cells Requires Drosophila FANCD2.
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.
Targeting an Achilles' heel of cancer with a WRN helicase inhibitor.
Werner syndrome helicase has a critical role in DNA damage responses in the absence of a functional fanconi anemia pathway.
Genetic Diseases, Inborn
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation.
Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases.
Characterization of the slow-growth phenotype of S. cerevisiae Whip/Mgs1 Sgs1 double deletion mutants.
Cigarette smoke induces cellular senescence via Werner's syndrome protein down-regulation.
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.
Defining the roles of the N-terminal region and the helicase activity of RECQ4A in DNA repair and homologous recombination in Arabidopsis.
Differential regulation of human RecQ family helicases in cell transformation and cell cycle.
Drosophila homologue of the Rothmund-Thomson syndrome gene: Essential function in DNA replication during development.
Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation.
Genetic Manipulation of Homologous Recombination In Vivo Attenuates Intestinal Tumorigenesis.
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.
Human RecQ Helicases in DNA Double-Strand Break Repair.
Human RECQ1 Is a DNA Damage Responsive Protein Required for Genotoxic Stress Resistance and Suppression of Sister Chromatid Exchanges.
Human RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capability.
Human WRN is an intrinsic inhibitor of progerin, abnormal splicing product of lamin A.
Molecular biology of Werner syndrome.
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.
RECQ DNA helicases and osteosarcoma.
RECQ DNA Helicases and Osteosarcoma.
RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex.
RECQ1 Helicase in Genomic Stability and Cancer.
RECQL4 Regulates p53 Function in vivo During Skeletogenesis.
RecQL4: a helicase linking formation and maintenance of a replication fork.
RNF8 ubiquitinates RecQL4 and promotes its dissociation from DNA double strand breaks.
Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Strand exchange of telomeric DNA catalyzed by the Werner syndrome protein (WRN) is specifically stimulated by TRF2.
The Human RecQ4 Helicase Contains a Functional RecQ C-terminal Region (RQC) That Is Essential for Activity.
The level of RECQL1 expression is a prognostic factor for epithelial ovarian cancer.
Unique and important consequences of RECQ1 deficiency in mammalian cells.
Werner syndrome protein participates in a complex with RAD51, RAD54, RAD54B and ATR in response to ICL-induced replication arrest.
Werner's syndrome as a hereditary risk factor for exocrine pancreatic cancer: Potential role of WRN in pancreatic tumorigenesis and patient-tailored therapy.
Glioblastoma
Aberrantly Expressed RECQL4 Helicase Supports Proliferation and Drug Resistance of Human Glioma Cells and Glioma Stem Cells.
DNA-repair gene variants are associated with glioblastoma survival.
RECQ1 Helicase Silencing Decreases the Tumour Growth Rate of U87 Glioblastoma Cell Xenografts in Zebrafish Embryos.
RECQ1 Promotes Stress Resistance and DNA Replication Progression Through PARP1 Signaling Pathway in Glioblastoma.
The human RECQ1 helicase is highly expressed in glioblastoma and plays an important role in tumor cell proliferation.
Glioma
Aberrantly Expressed RECQL4 Helicase Supports Proliferation and Drug Resistance of Human Glioma Cells and Glioma Stem Cells.
Hematologic Neoplasms
RECQ helicases are deregulated in hematological malignancies in association with a prognostic value.
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.
Herpes Simplex
Herpes simplex virus DNA replication: a spacer sequence directs the ATP-dependent formation of a nucleoprotein complex at oriS.
Hypersensitivity
Arabidopsis RecQsim, a plant-specific member of the RecQ helicase family, can suppress the MMS hypersensitivity of the yeast sgs1 mutant.
Cellular Werner phenotypes in mice expressing a putative dominant-negative human WRN gene.
Defining the roles of the N-terminal region and the helicase activity of RECQ4A in DNA repair and homologous recombination in Arabidopsis.
Histone H2A phosphorylation controls Crb2 recruitment at DNA breaks, maintains checkpoint arrest, and influences DNA repair in fission yeast.
Homologous recombination resolution defect in werner syndrome.
Maintenance of Yeast Genome Integrity by RecQ Family DNA Helicases.
Pathways of Resistance to Thymineless Death in Escherichia coli and the Function of UvrD.
The helicase domain and C-terminus of human RecQL4 facilitate replication elongation on DNA templates damaged by ionizing radiation.
Hypertriglyceridemia
Liver Aging and Pseudocapillarization in a Werner Syndrome Mouse Model.
Hypocalcemia
Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.
Infections
Adeno-associated virus rep protein synthesis during productive infection.
Buschke-Löwenstein Tumour: Successful Treatment with Minimally Invasive Techniques.
Characterization of the transcription profile of adeno-associated virus type 5 reveals a number of unique features compared to previously characterized adeno-associated viruses.
Comparative analysis of chrysanthemum transcriptome in response to three RNA viruses: Cucumber mosaic virus, Tomato spotted wilt virus and Potato virus X.
DDX3X coordinates host defense against influenza virus by activating the NLRP3 inflammasome and type I interferon response.
Development of bladder tumour containing HPV type 11 DNA after renal transplantation.
Different heparan sulfate proteoglycans serve as cellular receptors for human papillomaviruses.
Human cytomegalovirus protein pUL117 targets the mini-chromosome maintenance complex and suppresses cellular DNA synthesis.
Molecular targets for human papillomaviruses: prospects for antiviral therapy.
Relationship between the clinical course and HPV typing of recurrent laryngeal papillomatosis. The Red Cross War Memorial Children's Hospital experience 1982-1988.
[Detection of vaginal and cervical human papillomavirus by electronic microscope examination and polymerase chain reaction technique]
[Prevalence of human papilloma virus types and their influence on the course of the disease in children suffering from recurrent respiratory papillomatosis]
Infertility, Female
Drosophila homologue of the Rothmund-Thomson syndrome gene: Essential function in DNA replication during development.
Insulin Resistance
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Intellectual Disability
Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X.
Ketosis
Integrating RNA-Seq with GWAS reveals novel insights into the molecular mechanism underpinning ketosis in cattle.
Leukemia
BLM helicase is activated in BCR/ABL leukemia cells to modulate responses to cisplatin.
Promyelocytic leukemia protein interacts with werner syndrome helicase and regulates double-strand break repair in ?-irradiation-induced DNA damage responses.
WRN-targeted therapy using inhibitors NSC 19630 and NSC 617145 induce apoptosis in HTLV-1-transformed adult T-cell leukemia cells.
Leukemia, Lymphocytic, Chronic, B-Cell
RECQ helicases are deregulated in hematological malignancies in association with a prognostic value.
Leukemia, Myeloid, Acute
RECQ helicases are deregulated in hematological malignancies in association with a prognostic value.
Li-Fraumeni Syndrome
Genetically engineered mouse models and human osteosarcoma.
RECQL4 and p53 potentiate the activity of polymerase ? and maintain the integrity of the human mitochondrial genome.
Lipodystrophy
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Liver Neoplasms
Upregulation of RECQL4 expression predicts poor prognosis in hepatocellular carcinoma.
Lung Neoplasms
Effects of RECQ1 helicase silencing on non-small cell lung cancer cells.
Molecular Signature of Small Cell Lung Cancer after Treatment Failure: The MCM Complex as Therapeutic Target.
Lymphatic Metastasis
Genetic differences between primary larynx and pharynx carcinomas and their matched lymph node metastases by multiplex ligation-dependent probe amplification.
Genetic model of transformation and neoplastic progression in laryngeal epithelium.
Lymphoma
A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
RECQ helicases are deregulated in hematological malignancies in association with a prognostic value.
The interaction between ATRIP and MCM complex is essential for ATRIP chromatin loading and its phosphorylation in mantle cell lymphoma cells.
Lymphoma, Mantle-Cell
The interaction between ATRIP and MCM complex is essential for ATRIP chromatin loading and its phosphorylation in mantle cell lymphoma cells.
Malaria
Emerging importance of mismatch repair components including UvrD helicase and their cross-talk with the development of drug resistance in malaria parasite.
Medulloblastoma
DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma.
RNA Binding Protein-Mediated Post-Transcriptional Gene Regulation in Medulloblastoma.
Melanoma
On the interplay of telomeres, nevi and the risk of melanoma.
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Multiple Myeloma
RECQ helicases are deregulated in hematological malignancies in association with a prognostic value.
RECQ1 helicase is involved in replication stress survival and drug resistance in multiple myeloma.
Neoplasm Metastasis
An appraisal of RECQ1 expression in cancer progression.
DEAD-Box Helicase 3 X-Linked Promotes Metastasis by Inducing Epithelial-Mesenchymal Transition via p62/Sequestosome-1.
Gene expression meta-analysis identifies chromosomal regions and candidate genes involved in breast cancer metastasis.
Genetic differences between primary larynx and pharynx carcinomas and their matched lymph node metastases by multiplex ligation-dependent probe amplification.
Genetic model of transformation and neoplastic progression in laryngeal epithelium.
Human papillomavirus and host variables as predictors of clinical course in patients with juvenile-onset recurrent respiratory papillomatosis.
Identification of RECQ1-regulated transcriptome uncovers a role of RECQ1 in regulation of cancer cell migration and invasion.
RecQ-like helicase 4 (RECQL4) exacerbates resistance to oxaliplatin in colon adenocarcinoma via activation of the PI3K/AKT signaling pathway.
RECQL4 regulates DNA damage response and redox homeostasis in esophageal cancer.
The structural and functional characterization of human RecQ4 reveals insights into its helicase mechanism.
Neoplasms
A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis.
A high-throughput screen to identify novel small molecule inhibitors of the Werner Syndrome Helicase-Nuclease (WRN).
A human cancer cell line initiates DNA replication normally in the absence of ORC5 and ORC2 proteins.
A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women.
A role for PML and the nuclear body in genomic stability.
Acquisition of biologically relevant gene expression data by Affymetrix microarray analysis of archival formalin-fixed paraffin-embedded tumours.
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
Altered RECQL5 expression in urothelial bladder carcinoma increases cellular proliferation and makes RECQL5 helicase activity a novel target for chemotherapy.
An appraisal of RECQ1 expression in cancer progression.
Array comparative genomic hybridization in osteosarcoma.
Association of BLM and BRCA1 during Telomere Maintenance in ALT Cells.
ATR and ATM-dependent movement of BLM helicase during replication stress ensures optimal ATM activation and 53BP1 focus formation.
Biology of osteogenic sarcoma.
BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes.
BLM helicase-dependent and -independent roles of 53BP1 during replication stress-mediated homologous recombination.
BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.
BLM promotes the activation of Fanconi Anemia signaling pathway.
BLM unfolds G-quadruplexes in different structural environments through different mechanisms.
Bloom syndrome and the underlying causes of genetic instability.
Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases.
Catalytic strand separation by RECQ1 is required for RPA-mediated response to replication stress.
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
Clinical Impact of Tumor DNA Repair Expression and T-cell Infiltration in Breast Cancers.
Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding.
DDX3X Biomarker Correlates with Poor Survival in Human Gliomas.
DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma.
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.
Dephosphorylation and subcellular compartment change of the mitotic Bloom's syndrome DNA helicase in response to ionizing radiation.
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes.
Detection by epitope-defined monoclonal antibodies of Werner DNA helicases in the nucleoplasm and their upregulation by cell transformation and immortalization.
Determination of potential cellular proliferation in the odontogenic epithelia of the dental follicle of the asymptomatic impacted third molars.
Development of bladder tumour containing HPV type 11 DNA after renal transplantation.
Digital expression profiling identifies RUNX2, CDC5L, MDM2, RECQL4, and CDK4 as potential predictive biomarkers for neo-adjuvant chemotherapy response in paediatric osteosarcoma.
Digital imaging in the immunohistochemical evaluation of the proliferation markers Ki67, MCM2 and Geminin, in early breast cancer, and their putative prognostic value.
Distinct Diagnostic and Prognostic Values of Minichromosome Maintenance Gene Expression in Patients with Hepatocellular Carcinoma.
Distinct prognosis of mRNA expression of the five RecQ DNA-helicase family members - RECQL, BLM, WRN, RECQL4, and RECQL5 - in patients with breast cancer.
DNA content measurement and in situ hybridization in condylomatous cervical lesions.
DNA copy number changes at 8q11-24 in metastasized colorectal cancer.
dRecQ4 is required for DNA synthesis and essential for cell proliferation in Drosophila.
Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing.
Drosophila RecQ4 has a 3'-5'DNA helicase activity that is essential for viability.
Effect of minichromosome maintenance protein 2 deficiency on the locations of DNA replication origins.
Effects of RECQ1 helicase silencing on non-small cell lung cancer cells.
Elevated HPV16 E1 Expression Is Associated with Cervical Cancer Progression.
Embryonic stem cells deficient for Brca2 or Blm exhibit divergent genotoxic profiles that support opposing activities during homologous recombination.
Enhancement of c-Myc degradation by BLM helicase leads to delayed tumor initiation.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Envisioning how the prototypic molecular machine TFIIH functions in transcription initiation and DNA repair.
Enzymatic mechanism of the WRN helicase/nuclease.
Expression Profile and Prognostic Values of Mini-Chromosome Maintenance Families (MCMs) in Breast Cancer.
Formation of deletions during double-strand break repair in Drosophila DmBlm mutants occurs after strand invasion.
Function of recQ family helicase in genome stability.
Functional screen of human MCM2-7 variant alleles for disease-causing potential.
Genetic Manipulation of Homologous Recombination In Vivo Attenuates Intestinal Tumorigenesis.
Genetic model of transformation and neoplastic progression in laryngeal epithelium.
Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
HPV 11, 16 and 18 DNA sequences in cervical swabs from women with cervical dysplasia: prevalence and associated risk of progression.
HPV-11- and HPV-16-associated oral verrucous carcinoma.
Hrq1, a homolog of the human RecQ4 helicase, acts catalytically and structurally to promote genome integrity.
Human helicase RECQL4 drives cisplatin resistance in gastric cancer by activating an AKT-YB1-MDR1 signaling pathway.
Human papillomavirus associated with oesophageal cancer.
Human papillomavirus in primary epithelial tumors of the lacrimal sac.
Human papillomavirus infection in Norwegian women with cervical cancer.
Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
Human RECQ helicases: Roles in DNA metabolism, mutagenesis and cancer biology.
Human RECQ1 interacts with Ku70/80 and modulates DNA end-joining of double-strand breaks.
Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3alpha and 3beta.
Human RecQL4 as a Novel Molecular Target for Cancer Therapy.
Human RecQL4 Helicase Plays Critical Roles in Prostate Carcinogenesis.
Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Human RECQL4 represses the RAD52-mediated single-strand annealing pathway after ionizing radiation or cisplatin treatment.
Human RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capability.
Human RECQL5{beta} stimulates flap endonuclease 1.
Identification of a selective DDX3X inhibitor with newly developed quantitative high-throughput RNA helicase assays.
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.
Identification of RECQ1-regulated transcriptome uncovers a role of RECQ1 in regulation of cancer cell migration and invasion.
Identification of the DNA Replication Regulator MCM Complex Expression and Prognostic Significance in Hepatic Carcinoma.
Increased Cancer Prevalence in Peripartum Cardiomyopathy.
Increased chemotherapeutic activity of camptothecin in cancer cells by siRNA-induced silencing of WRN helicase.
Increased levels of RECQ5 shift DNA repair from canonical to alternative pathways.
Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress.
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.
Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification.
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
KSHV de-regulates host cellular replication during lytic reactivation by disrupting the MCM complex through ORF59.
Longevity mutation in SCH9 prevents recombination errors and premature genomic instability in a Werner/Bloom model system.
Maintenance of Yeast Genome Integrity by RecQ Family DNA Helicases.
MCM2-7 complex is a novel druggable target for neuroendocrine prostate cancer.
MCM7 polymorphisms associated with the AML relapse and overall survival.
Minichromosome Maintenance (MCM) Family as potential diagnostic and prognostic tumor markers for human gliomas.
Minichromosome maintenance helicase paralog MCM9 is dispensible for DNA replication but functions in germ-line stem cells and tumor suppression.
Mitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion.
Molecular biology of Werner syndrome.
Molecular differentiation of early and late stage laryngeal squamous cell carcinoma: an exploratory analysis.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Multiple genetic pathways involving the Caenorhabditis elegans Bloom's syndrome genes him-6, rad-51, and top-3 are needed to maintain genome stability in the germ line.
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Mutations in conserved functional domains of human RecQ helicases are associated with diseases and cancer: A review.
Mutations in DNA replication genes reduce yeast life span.
Myc and the Replicative CMG Helicase: The Creation and Destruction of Cancer: Myc Over-Activation of CMG Helicases Drives Tumorigenesis and Creates a Vulnerability in CMGs for Therapeutic Intervention.
Next-generation sequencing identifies recurrent copy number variations in invasive breast carcinomas from Ghana.
Novel Insights into the Biochemical Mechanism of CK1? and its Functional Interplay with DDX3X.
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
p53 modulates RPA-dependent and RPA-independent WRN helicase activity.
p53-mediated apoptosis is attenuated in Werner syndrome cells.
Pharmacological inhibition of DEAD-Box RNA Helicase 3 attenuates stress granule assembly.
Possible anti-recombinogenic role of Bloom's syndrome helicase in double-strand break processing.
Prognostic value of minichromosome maintenance mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy.
Promotion and regulation of homologous recombination by DNA helicases.
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 and enzymatic characterization of Gallus gallus BLM helicase.
Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome.
RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells.
RecQ helicases and PARP1 team up in maintaining genome integrity.
RecQ helicases and topoisomerases: implications for genome stability in humans.
RecQ helicases: multifunctional genome caretakers.
RecQ helicases: multiple roles in genome maintenance.
RECQ1 expression is upregulated in response to DNA damage and in a p53-dependent manner.
RECQ1 Helicase in Genomic Stability and Cancer.
RECQ1 Helicase Silencing Decreases the Tumour Growth Rate of U87 Glioblastoma Cell Xenografts in Zebrafish Embryos.
RECQ1 Promotes Stress Resistance and DNA Replication Progression Through PARP1 Signaling Pathway in Glioblastoma.
RecQ4 Facilitates UV Light-induced DNA Damage Repair through Interaction with Nucleotide Excision Repair Factor Xeroderma Pigmentosum Group A (XPA).
RECQ5: A Mysterious Helicase at the Interface of DNA Replication and Transcription.
RECQL1 and WRN DNA repair helicases: potential therapeutic targets and proliferative markers against cancers.
RECQL4 and p53 potentiate the activity of polymerase ? and maintain the integrity of the human mitochondrial genome.
RecQL4 cytoplasmic localization: Implications in mitochondrial DNA oxidative damage repair.
RecQL4 helicase amplification is involved in human breast tumorigenesis.
RECQL4 helicase has oncogenic potential in sporadic breast cancers.
RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity.
RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks.
RECQL4 regulates DNA damage response and redox homeostasis in esophageal cancer.
RECQL4, Negatively Regulated by miR-10a-5p, Facilitates Cell Proliferation and Invasion via MAFB in Ovarian Cancer.
RecQL4: a helicase linking formation and maintenance of a replication fork.
Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma.
Regulation of MCM2-7 function.
Repeat expansions confer WRN dependence in microsatellite-unstable cancers.
Replication protein A stimulates the werner syndrome protein branch migration activity.
Resection Activity of the Sgs1 Helicase Alters the Affinity of DNA Ends for Homologous Recombination Proteins in Saccharomyces cerevisiae.
Role for the Werner syndrome protein in the promotion of tumor cell growth.
Role of MCM2-7 protein phosphorylation in human cancer cells.
Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging.
Roles of the Bloom's syndrome helicase in the maintenance of genome stability.
Roles of the Werner syndrome RecQ helicase in DNA replication.
Roles of Werner syndrome protein in protection of genome integrity.
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Screening and identification of genes associated with cell proliferation in cholangiocarcinoma.
Sgs1 function in the repair of DNA replication intermediates is separable from its role in homologous recombinational repair.
Site-directed mutants of human RECQ1 reveal functional importance of the zinc binding domain.
Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.
Strand exchange of telomeric DNA catalyzed by the Werner syndrome protein (WRN) is specifically stimulated by TRF2.
Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA.
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.
Targeted inhibition of WRN helicase, replication stress and cancer.
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
Targeting an Achilles' heel of cancer with a WRN helicase inhibitor.
Telomerase deficiency and cancer susceptibility syndromes.
Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein.
The Bloom's syndrome helicase (BLM) interacts physically and functionally with p12, the smallest subunit of human DNA polymerase delta.
The Bloom's syndrome helicase suppresses crossing over during homologous recombination.
The broken genome: genetic and pharmacologic approaches to breaking DNA.
The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.
The human RecQ helicases BLM and RECQL4 cooperate to preserve genome stability.
The human RECQ1 helicase is highly expressed in glioblastoma and plays an important role in tumor cell proliferation.
The Human RecQ4 Helicase Contains a Functional RecQ C-terminal Region (RQC) That Is Essential for Activity.
The Human Replicative Helicase, the CMG Complex, as a Target for Anti-cancer Therapy.
The MCM complex: its role in DNA replication and implications for cancer therapy.
The Mcm2-7 replicative helicase: a promising chemotherapeutic target.
The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.
The mutation spectrum in RECQL4 diseases.
The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress.
The Set2-RPB1-interaction domain of human RECQ5 is important for transcription-associated genome stability.
The structural and functional characterization of human RecQ4 reveals insights into its helicase mechanism.
The Werner syndrome protein functions in repair of Cr(VI)-induced replication-associated DNA damage.
The WRN helicase: resolving a new target in microsatellite unstable cancers.
Tools To Live By: Bacterial DNA Structures Illuminate Cancer.
Transcriptome guided identification of novel functions of RECQ1 helicase.
Tumor suppressor p53 represses transcription of RECQ4 helicase.
Understanding the roles of RecQ helicases in the maintenance of genome integrity and suppression of tumorigenesis.
Unique and important consequences of RECQ1 deficiency in mammalian cells.
Upregulation of RECQL4 expression predicts poor prognosis in hepatocellular carcinoma.
Werner syndrome and the function of the Werner protein; what they can teach us about the molecular aging process.
Werner syndrome helicase has a critical role in DNA damage responses in the absence of a functional fanconi anemia pathway.
Werner syndrome helicase is a selective vulnerability of microsatellite instability-high tumor cells.
Werner Syndrome Helicase Is Required for the Survival of Cancer Cells with Microsatellite Instability.
Werner Syndrome Protein Expression in Breast Cancer.
Werner syndrome protein suppresses the formation of large deletions during the replication of human telomeric sequences.
Werner's syndrome as a hereditary risk factor for exocrine pancreatic cancer: Potential role of WRN in pancreatic tumorigenesis and patient-tailored therapy.
When transcription meets recombination: a lesson from the human RECQ protein complexes.
WRN functions in a RAD18-dependent damage avoidance pathway.
WRN helicase is a synthetic lethal target in microsatellite unstable cancers.
Yeast as a model system to study RecQ helicase function.
[DNA helicases and human diseases]
[Preparation, characterization and application of monoclonal antibody against RecQ helicase].
Neuroblastoma
Minichromosome Maintenance Complex Is a Critical Node in the miR-183 Signaling Network of MYCN-Amplified Neuroblastoma Cells.
Neurodegenerative Diseases
Pharmacological inhibition of DEAD-Box RNA Helicase 3 attenuates stress granule assembly.
Neutropenia
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.
Nevus
On the interplay of telomeres, nevi and the risk of melanoma.
Nijmegen Breakage Syndrome
Werner syndrome protein associates with gamma H2AX in a manner that depends upon Nbs1.
Orofaciodigital Syndromes
Copy Number Variations of Four Y-Linked Genes in Swamp Buffaloes.
Osteosarcoma
Array comparative genomic hybridization in osteosarcoma.
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.
Digital expression profiling identifies RUNX2, CDC5L, MDM2, RECQL4, and CDK4 as potential predictive biomarkers for neo-adjuvant chemotherapy response in paediatric osteosarcoma.
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation.
Genetically engineered mouse models and human osteosarcoma.
Human RecQL4 as a Novel Molecular Target for Cancer Therapy.
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Nuclear import and retention domains in the amino terminus of RECQL4.
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.
RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.
Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma.
Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.
Rothmund-Thomson syndrome.
Second Osteosarcoma in a 16-Year-Old Woman Diagnosed With Rothmund-Thomson Syndrome.
The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
The mutation spectrum in RECQL4 diseases.
Ovarian Neoplasms
PHGDH Is Upregulated at Translational Level and Implicated in Platin-Resistant in Ovarian Cancer Cells.
RECQL4, Negatively Regulated by miR-10a-5p, Facilitates Cell Proliferation and Invasion via MAFB in Ovarian Cancer.
Systemic Analysis of the DNA Replication Regulator MCM Complex in Ovarian Cancer and Its Prognostic Value.
Pancreatic Neoplasms
Prognostic value of minichromosome maintenance mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy.
RECQ1 A159C Polymorphism Is Associated With Overall Survival of Patients With Resected Pancreatic Cancer: A Replication Study in NRG Oncology Radiation Therapy Oncology Group 9704.
Single nucleotide polymorphisms of RecQ1, RAD54L, and ATM genes are associated with reduced survival of pancreatic cancer.
Papilloma
Association of DNA aneuploidy with human papillomavirus-induced malignant transformation of sinonasal transitional papillomas.
Children and partners of patients with recurrent respiratory papillomatosis have no evidence of the disease during long-term observation.
Conjunctival papilloma caused by human papillomavirus type 11 treated with systemic interferon in a five-year-old boy.
Detection and typing of papillomavirus DNA in formaldehyde-fixed paraffin-embedded tissue.
Detection of human papillomavirus in epithelial lesions of the conjunctiva.
Human papillomavirus and host variables as predictors of clinical course in patients with juvenile-onset recurrent respiratory papillomatosis.
Human papillomavirus in normal conjunctival tissue and in conjunctival papilloma: types and frequencies in a large series.
Human papillomavirus in primary epithelial tumors of the lacrimal sac.
Human papillomavirus type 11DNA in papillary squamous cell lung carcinoma.
Integration of human papillomavirus type 11 in recurrent respiratory papilloma-associated cancer.
Juvenile-onset recurrent respiratory papillomatosis with pulmonary involvement and carcinomatous transformation.
Malignant tumours in patients with a history of multiple laryngeal papillomas: the significance of irradiation.
Oral Papillomatosis in Immunocompromised Patients: A Case Series of Kidney Transplant Recipients and Myelodysplastic Syndrome.
Relationship of human papillomavirus to Schneiderian papillomas.
The cellular DNA polymerase alpha-primase is required for papillomavirus DNA replication and associates with the viral E1 helicase.
[Prevalence of human papilloma virus types and their influence on the course of the disease in children suffering from recurrent respiratory papillomatosis]
Papillomavirus Infections
Different heparan sulfate proteoglycans serve as cellular receptors for human papillomaviruses.
In inverted papillomas HPV more likely represents incidental colonization than an etiological factor.
Pneumonia
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.
Pneumonia, Pneumocystis
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.
Progeria
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.
Serines 440 and 467 in the Werner syndrome protein are phosphorylated by DNA-PK and affects its dynamics in response to DNA double strand breaks.
Werner complex deficiency in cells disrupts the Nuclear Pore Complex and the distribution of lamin B1.
Prostatic Neoplasms
Bloom helicase explicitly unwinds 3'-tailed G4DNA structure in prostate cancer cells.
Bloom Syndrome Protein Activates AKT and PRAS40 in Prostate Cancer Cells.
Human RecQL4 Helicase Plays Critical Roles in Prostate Carcinogenesis.
MCM2-7 complex is a novel druggable target for neuroendocrine prostate cancer.
RecQ helicase BLM regulates prostate cancer cell proliferation and apoptosis.
Regulation of minichromosome maintenance gene family by microRNA-1296 and genistein in prostate cancer.
Protein Deficiency
Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.
WRN regulates pathway choice between classical and alternative non-homologous end joining.
Pulmonary Disease, Chronic Obstructive
RecQ-like helicase 4 (RECQL4) exacerbates resistance to oxaliplatin in colon adenocarcinoma via activation of the PI3K/AKT signaling pathway.
rada recombinase deficiency
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency.
Retinoblastoma
Array comparative genomic hybridization in osteosarcoma.
Genetically engineered mouse models and human osteosarcoma.
Human RecQL4 Helicase Plays Critical Roles in Prostate Carcinogenesis.
Rothmund-Thomson Syndrome
A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.
A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.
Analysis of the DNA unwinding activity of RecQ family helicases.
Array comparative genomic hybridization in osteosarcoma.
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
ATM activation is impaired in human cells defective in RecQL4 helicase activity.
Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.
Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.
Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair.
Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome.
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient.
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.
Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4.
Direct and indirect roles of RECQL4 in modulating base excision repair capacity.
Disease-causing missense mutations in human DNA helicase disorders.
DNA helicases associated with genetic instability, cancer, and aging.
DNA helicases, genomic instability, and human genetic disease.
Drosophila homologue of the Rothmund-Thomson syndrome gene: Essential function in DNA replication during development.
Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?
Elevated incidence of loss of heterozygosity (LOH) in an sgs1 mutant of Saccharomyces cerevisiae: roles of yeast RecQ helicase in suppression of aneuploidy, interchromosomal rearrangement, and the simultaneous incidence of both events during mitotic growth.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Enzymatic mechanism of the WRN helicase/nuclease.
Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient.
Function of recQ family helicase in genome stability.
Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation.
Genetically engineered mouse models and human osteosarcoma.
Growth retardation and skin abnormalities of the Recql4-deficient mouse.
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.
Human RecQ Helicases in DNA Double-Strand Break Repair.
Human RecQL4 Helicase Plays Critical Roles in Prostate Carcinogenesis.
Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Human RECQL4 represses the RAD52-mediated single-strand annealing pathway after ionizing radiation or cisplatin treatment.
Human RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capability.
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome.
Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase.
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome.
MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication.
Mitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion.
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.
Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Nuclear import and retention domains in the amino terminus of RECQL4.
Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.
Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts.
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.
Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.
Recombination-mediated lengthening of terminal telomeric repeats requires the Sgs1 DNA helicase.
RECQ DNA helicases and osteosarcoma.
RECQ DNA Helicases and Osteosarcoma.
RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells.
RecQ helicases and PARP1 team up in maintaining genome integrity.
RecQ helicases: suppressors of tumorigenesis and premature aging.
RecQ4 Facilitates UV Light-induced DNA Damage Repair through Interaction with Nucleotide Excision Repair Factor Xeroderma Pigmentosum Group A (XPA).
RECQL4 and p53 potentiate the activity of polymerase ? and maintain the integrity of the human mitochondrial genome.
RECQL4 helicase has oncogenic potential in sporadic breast cancers.
RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.
RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity.
RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks.
RECQL4 Regulates p53 Function in vivo During Skeletogenesis.
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.
RecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integrity.
RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.
RecQL4: a helicase linking formation and maintenance of a replication fork.
Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma.
Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.
Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.
Roles of the Bloom's syndrome helicase in the maintenance of genome stability.
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Second Osteosarcoma in a 16-Year-Old Woman Diagnosed With Rothmund-Thomson Syndrome.
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity.
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.
The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.
The involvement of human RECQL4 in DNA double-strand break repair.
The N-terminal region of the Schizosaccharomyces pombe RecQ helicase, Rqh1p, physically interacts with Topoisomerase III and is required for Rqh1p function.
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.
The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress.
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
[DNA helicases and human diseases]
[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation]
Sarcoma
Nucleolar localization of the Werner syndrome protein in human cells.
Skin Abnormalities
Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases.
Skin Diseases
Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.
Small Cell Lung Carcinoma
Molecular Signature of Small Cell Lung Cancer after Treatment Failure: The MCM Complex as Therapeutic Target.
Squamous Cell Carcinoma of Head and Neck
Gene-environment interactions of novel variants associated with head and neck cancer.
Starvation
Diverged nuclear localization of Werner helicase in human and mouse cells.
RecQ helicases and genome stability: lessons from model organisms and human disease.
Stomach Neoplasms
Human helicase RECQL4 drives cisplatin resistance in gastric cancer by activating an AKT-YB1-MDR1 signaling pathway.
Overexpression of RECQL4 is associated with poor prognosis in patients with gastric cancer.
Stroke
UvrD helicase unwinds DNA one base pair at a time by a two-part power stroke.
Triple Negative Breast Neoplasms
The DNA repair helicase RECQ1 has a checkpoint-dependent role in mediating DNA damage responses induced by gemcitabine.
Tuberculosis
Deciphering the essentiality and function of SxSx motif in Mycobacterium tuberculosis UvrB.
Enzymatic activities and DNA substrate specificity of Mycobacterium tuberculosis DNA helicase XPB.
Mycobacterium tuberculosis UvrB is a robust DNA-stimulated ATPase that also possesses structure-specific ATP-dependent DNA helicase activity.
Urinary Bladder Neoplasms
Development of bladder tumour containing HPV type 11 DNA after renal transplantation.
Uterine Cervical Neoplasms
A comparative meta-genomic analysis of HPV strains: A step towards the design, synthesis and characterization of noval quenazoline derivative for antiviral activity.
Gene expression profiles in squamous cell cervical carcinoma using array-based comparative genomic hybridization analysis.
Over expression of minichromosome maintenance genes is clinically correlated to cervical carcinogenesis.
Virus Diseases
Novel Insights into the Biochemical Mechanism of CK1? and its Functional Interplay with DDX3X.
Pharmacological inhibition of DEAD-Box RNA Helicase 3 attenuates stress granule assembly.
Werner Syndrome
A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity.
A gene encoding an RNase D exonuclease-like protein is required for post-transcriptional silencing in Arabidopsis.
A lack of telomeric non-reciprocal recombination (TENOR) may account for the premature proliferation blockade of Werner's syndrome fibroblasts.
A model for the phenotypic presentation of Werner's syndrome.
Accelerated aging syndromes, are they relevant to normal human aging?
ACE, PAI-1, decorin and Werner helicase genes are not associated with the development of renal disease in European patients with type 1 diabetes.
Action-at-a-Distance Mutagenesis Induced by Oxidized Guanine in Werner Syndrome Protein-Reduced Human Cells.
Active Control of Repetitive Structural Transitions between Replication Forks and Holliday Junctions by Werner Syndrome Helicase.
Age related expression of Werner's syndrome protein in selected tissues and coexpression of transcription factors.
Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.
Analysis of the DNA unwinding activity of RecQ family helicases.
Ascorbate improves metabolic abnormalities in Wrn mutant mice but not the free radical scavenger catechin.
ATM kinase enables the functional axis of YAP, PML and p53 to ameliorate loss of Werner protein-mediated oncogenic senescence.
Atypical meningioma in Werner syndrome: a case report.
Binding specificity determines polarity of DNA unwinding by the Sgs1 protein of S. cerevisiae.
Biochemical characterization of the DNA substrate specificity of Werner syndrome helicase.
Biochemical characterization of the WRN-1 RecQ helicase of Caenorhabditis elegans.
BLM is an early responder to DNA double-strand breaks.
Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.
Camptothecin targets WRN protein: mechanism and relevance in clinical breast cancer.
Catalytic activities of Werner protein are affected by adduction with 4-hydroxy-2-nonenal.
Cellular deficiency of Werner syndrome protein or RECQ1 promotes genotoxic potential of hydroquinone and benzo[a]pyrene exposure.
Characterization of the slow-growth phenotype of S. cerevisiae Whip/Mgs1 Sgs1 double deletion mutants.
Cigarette smoke induces cellular senescence via Werner's syndrome protein down-regulation.
Clinical outcome and mechanism of soft tissue calcification in werner syndrome.
Comparison of proliferation and genomic instability responses to WRN silencing in hematopoietic HL60 and TK6 cells.
Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding.
Coordinate action of the helicase and 3' to 5' exonuclease of Werner syndrome protein.
Depletion of Werner helicase results in mitotic hyperrecombination and pleiotropic homologous and nonhomologous recombination phenotypes.
Distinct proteins encoded by alternative transcripts of the PURG gene, located contrapodal to WRN on chromosome 8, determined by differential termination/polyadenylation.
Divergent cellular phenotypes of human and mouse cells lacking the Werner syndrome RecQ helicase.
DNA helicases, genomic instability, and human genetic disease.
DNA repair deficiency in neurodegeneration.
DNA secondary structure of the released strand stimulates WRN helicase action on forked duplexes without coordinate action of WRN exonuclease.
DNA2-An Important Player in DNA Damage Response or Just Another DNA Maintenance Protein?
DNase I footprinting and enhanced exonuclease function of the bipartite Werner syndrome protein (WRN) bound to partially melted duplex DNA.
Elevated incidence of loss of heterozygosity (LOH) in an sgs1 mutant of Saccharomyces cerevisiae: roles of yeast RecQ helicase in suppression of aneuploidy, interchromosomal rearrangement, and the simultaneous incidence of both events during mitotic growth.
Evidence for a replication function of FFA-1, the Xenopus orthologue of Werner syndrome protein.
Expression differences by continent of origin point to the immortalization process.
Failure to complement abnormal phenotypes of simian virus 40-transformed Werner syndrome cells by introduction of a normal human chromosome 8.
Fibroblasts from Werner syndrome patients: cancer cells derived by experimental introduction of oncogenes maintain malignant properties despite entering crisis.
Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome.
Function of recQ family helicase in genome stability.
Functional interaction of p53 and BLM DNA helicase in apoptosis.
Functional role of the Werner syndrome RecQ helicase in human fibroblasts.
Helicase activity is only partially required for Schizosaccharomyces pombe Rqh1p function.
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.
Human cytomegalovirus UL97 kinase prevents the deposition of mutant protein aggregates in cellular models of Huntington's disease and Ataxia.
Human RecQ Helicases in DNA Double-Strand Break Repair.
Human RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capability.
Human WRN is an intrinsic inhibitor of progerin, abnormal splicing product of lamin A.
Identification and characterization of a Drosophila ortholog of WRN exonuclease that is required to maintain genome integrity.
Identification of the Xenopus DNA2 protein as a major nuclease for the 5'->3' strand-specific processing of DNA ends.
In vivo function of the conserved non-catalytic domain of Werner syndrome helicase in DNA replication.
Increased chemotherapeutic activity of camptothecin in cancer cells by siRNA-induced silencing of WRN helicase.
Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress.
Inhibition of unwinding of G-quadruplex structures by Sgs1 helicase in the presence of N,N'-bis[2-(1-piperidino)ethyl]-3,4,9,10-perylenetetracarboxylic diimide, a G-quadruplex-interactive ligand.
Inhibition of Werner Syndrome Helicase Activity by Benzo[a]pyrene Diol Epoxide Adducts Can Be Overcome by Replication Protein A.
Inhibition of Werner syndrome helicase activity by benzo[c]phenanthrene diol epoxide dA adducts in DNA is both strand-and stereoisomer-dependent.
Interactions between the Werner syndrome helicase and DNA polymerase delta specifically facilitate copying of tetraplex and hairpin structures of the d(CGG)n trinucleotide repeat sequence.
Involvement of WRN helicase in immortalization and tumorigenesis by the telomeric crisis pathway (Review).
Ku heterodimer binds to both ends of the Werner protein and functional interaction occurs at the Werner N-terminus.
Length-dependent degradation of single-stranded 3' ends by the Werner syndrome protein (WRN): implications for spatial orientation and coordinated 3' to 5' movement of its ATPase/helicase and exonuclease domains.
Linkage between Werner syndrome protein and the Mre11 complex via Nbs1.
LMNA mutations in atypical Werner's syndrome.
Loss of Bloom syndrome protein destabilizes human gene cluster architecture.
Loss of Werner syndrome protein function promotes aberrant mitotic recombination.
Mechanism and substrate specificity of telomeric protein POT1 stimulation of the Werner syndrome helicase.
Mechanistic analysis of a DNA end processing pathway mediated by the Xenopus Werner syndrome protein.
Metabolic and Phenotypic Differences between Mice Producing a Werner Syndrome Helicase Mutant Protein and Wrn Null Mice.
Modulation of telomeres in alternative lengthening of telomeres type I like human cells by the expression of werner protein and telomerase.
Molecular biology of Werner syndrome.
Molecular characterization of nuclear DNA helicase II (RNA helicase A).
Molecular cooperation between the Werner syndrome protein and replication protein A in relation to replication fork blockage.
Mut-7 of C. elegans, required for transposon silencing and RNA interference, is a homolog of Werner syndrome helicase and RNaseD.
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.
Oligomeric ring structure of the Bloom's syndrome helicase.
p53-mediated apoptosis is attenuated in Werner syndrome cells.
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Perturbed replication induced genome wide or at common fragile sites is differently managed in the absence of WRN.
Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors.
Physical and Functional Interactions of Caenorhabditis elegansWRN-1 Helicase with RPA-1.
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases.
Promyelocytic leukemia protein interacts with werner syndrome helicase and regulates double-strand break repair in ?-irradiation-induced DNA damage responses.
Quantitative analysis of Werner helicase activity using the single-molecule fluorescence detection system MF10S.
Rapamycin decreases DNA damage accumulation and enhances cell growth of WRN-deficient human fibroblasts.
Recombination-mediated lengthening of terminal telomeric repeats requires the Sgs1 DNA helicase.
RECQ DNA helicases and osteosarcoma.
RECQ DNA Helicases and Osteosarcoma.
RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells.
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.
RecQ helicases: suppressors of tumorigenesis and premature aging.
Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription.
Replication fork regression in vitro by the Werner syndrome protein (WRN): holliday junction formation, the effect of leading arm structure and a potential role for WRN exonuclease activity.
Replication protein A stimulates the werner syndrome protein branch migration activity.
Residues in the RecQ C-terminal Domain of the Human Werner Syndrome Helicase Are Involved in Unwinding G-quadruplex DNA.
Resveratrol Improves Insulin Resistance Hyperglycemia and Hepatosteatosis But Not Hypertriglyceridemia, Inflammation, and Life Span in a Mouse Model for Werner Syndrome.
Role for the Werner syndrome protein in the promotion of tumor cell growth.
Roles of RNase P and Its Subunits.
Roles of the Bloom's syndrome helicase in the maintenance of genome stability.
Roles of the Werner syndrome RecQ helicase in DNA replication.
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Serines 440 and 467 in the Werner syndrome protein are phosphorylated by DNA-PK and affects its dynamics in response to DNA double strand breaks.
Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome.
Single-molecule studies reveal reciprocating of WRN helicase core along ssDNA during DNA unwinding.
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein.
Stimulation of flap endonuclease-1 by the Bloom's syndrome protein.
Strand exchange of telomeric DNA catalyzed by the Werner syndrome protein (WRN) is specifically stimulated by TRF2.
Structural mechanisms of human RecQ helicases WRN and BLM.
Structure of the RecQ C-terminal domain of human Bloom syndrome protein.
Targeted inhibition of WRN helicase by external guide sequence and RNase P RNA.
Targeting an Achilles' heel of cancer with a WRN helicase inhibitor.
Telomere dysfunction as a cause of genomic instability in Werner syndrome.
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.
Telomere ResQue and preservation--roles for the Werner syndrome protein and other RecQ helicases.
Telomeric protein TRF2 protects Holliday junctions with telomeric arms from displacement by the Werner syndrome helicase.
The Caenorhabditis elegans Werner syndrome protein functions upstream of ATR and ATM in response to DNA replication inhibition and double-strand DNA breaks.
The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome.
The DNA structure and sequence preferences of WRN underlie its function in telomeric recombination events.
The effect of 2-deoxy-D-glucose on Werner syndrome RecQ helicase gene.
The effect of resveratrol on the werner syndrome RecQ helicase gene and telomerase activity.
The human WRN and BLM RecQ helicases differentially regulate cell proliferation and survival after chemotherapeutic DNA damage.
The N-terminal domain of the large subunit of human replication protein A binds to Werner syndrome protein and stimulates helicase activity.
The N-terminal region of the Schizosaccharomyces pombe RecQ helicase, Rqh1p, physically interacts with Topoisomerase III and is required for Rqh1p function.
The ophthalmic diagnosis and management of four siblings with Werner syndrome.
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.
The role of WRNIP1 in genome maintenance.
The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress.
The Werner Protein Acts as a Coactivator of Nuclear Factor ?B (NF-?B) on HIV-1 and Interleukin-8 (IL-8) Promoters.
The Werner syndrome exonuclease facilitates DNA degradation and high fidelity DNA polymerization by human DNA polymerase ?
The Werner syndrome helicase and exonuclease cooperate to resolve telomeric D loops in a manner regulated by TRF1 and TRF2.
The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase ? Elongation.
The Werner syndrome helicase is a cofactor for HIV-1 long terminal repeat transactivation and retroviral replication.
The Werner syndrome helicase protein is required for cell proliferation, immortalization, and tumorigenesis in Scaffold Attachment Factor B1 deficient mice.
The Werner syndrome protein has separable recombination and survival functions.
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures.
The Werner syndrome protein limits the error-prone 8-oxo-dG lesion bypass activity of human DNA polymerase kappa.
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.
Tumorigenic effect of nonfunctional p53 or p21 in mice mutant in the Werner syndrome helicase.
Vitamin C restores healthy aging in a mouse model for Werner syndrome.
Werner complex deficiency in cells disrupts the Nuclear Pore Complex and the distribution of lamin B1.
Werner protein protects nonproliferating cells from oxidative DNA damage.
Werner syndrome helicase (WRN), nuclear DNA helicase II (NDH II) and histone gammaH2AX are localized to the centrosome.
Werner syndrome helicase activity is essential in maintaining fragile site stability.
Werner syndrome helicase contains a 5'-->3' exonuclease activity that digests DNA and RNA strands in DNA/DNA and RNA/DNA duplexes dependent on unwinding.
Werner syndrome helicase has a critical role in DNA damage responses in the absence of a functional fanconi anemia pathway.
Werner syndrome helicase is a selective vulnerability of microsatellite instability-high tumor cells.
Werner Syndrome Helicase Is Required for the Survival of Cancer Cells with Microsatellite Instability.
Werner Syndrome Protein and DNA Replication.
Werner syndrome protein associates with gamma H2AX in a manner that depends upon Nbs1.
Werner syndrome protein directly binds to the AAA ATPase p97/VCP in an ATP-dependent fashion.
Werner syndrome protein limits MYC-induced cellular senescence.
Werner syndrome protein participates in a complex with RAD51, RAD54, RAD54B and ATR in response to ICL-induced replication arrest.
Werner syndrome protein suppresses the formation of large deletions during the replication of human telomeric sequences.
Werner's syndrome as a hereditary risk factor for exocrine pancreatic cancer: Potential role of WRN in pancreatic tumorigenesis and patient-tailored therapy.
WRN functions in a RAD18-dependent damage avoidance pathway.
WRN helicase defective in the premature aging disorder Werner syndrome genetically interacts with topoisomerase 3 and restores the top3 slow growth phenotype of sgs1 top3.
WRN helicase expression in Werner syndrome cell lines.
WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts.
WRN polymorphisms affect expression levels of plasminogen activator inhibitor type 1 in cultured fibroblasts.
WRN protein and Werner syndrome.
WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome.
WRN regulates pathway choice between classical and alternative non-homologous end joining.
[DNA helicases and human diseases]
Xeroderma Pigmentosum
RecQ4 Facilitates UV Light-induced DNA Damage Repair through Interaction with Nucleotide Excision Repair Factor Xeroderma Pigmentosum Group A (XPA).