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Disease on EC 1.1.1.105 - all-trans-retinol dehydrogenase (NAD+)

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma of Lung
Oxidation of PAH trans-Dihydrodiols by Human Aldo-Keto Reductase AKR1B10.
Adenoma
Retinoid acid receptor expression is helpful to distinguish between adenoma and well-differentiated carcinoma in the thyroid.
all-trans-retinol dehydrogenase (nad+) deficiency
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
Retinol dehydrogenase 10 is indispensible for spermatogenesis in juvenile males.
Retinol Dehydrogenase-10 Regulates Pancreas Organogenesis and Endocrine Cell Differentiation via Paracrine Retinoic Acid Signaling.
Bacteremia
Trends in Bacteremia Over 2 Decades in the Top End of the Northern Territory of Australia.
Blindness
Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration.
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Novel RDH12 sequence variations in Leber congenital amaurosis.
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.
Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12.
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Retinal imaging in inherited retinal diseases.
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.
Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress.
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
Yeast ENV9 encodes a conserved lipid droplet (LD) short-chain dehydrogenase involved in LD morphology.
Burkitt Lymphoma
Biallelic deletion and loss of expression analysis of genes at FRA2G common fragile site in tumor-derived cell lines.
Epstein-Barr virus lytic infection induces retinoic acid-responsive genes through induction of a retinol-metabolizing enzyme, DHRS9.
Carcinoma
Downregulation of DHRS9 is associated with poor prognosis in oral squamous cell carcinoma.
Retinoid acid receptor expression is helpful to distinguish between adenoma and well-differentiated carcinoma in the thyroid.
Carcinoma, Hepatocellular
Clinical significance and function of RDH16 as a tumor-suppressing gene in hepatocellular carcinoma.
Forced expression of RDH10 gene retards growth of HepG2 cells.
Insulin Regulates Retinol Dehydrogenase Expression and All-trans-retinoic Acid Biosynthesis through FoxO1.
Cellulitis
Patterns of paediatric emergency presentations to a tertiary referral centre in the Northern Territory.
Choanal Atresia
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.
Coloboma
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Colorectal Neoplasms
Downregulation of DHRS9 expression in colorectal cancer tissues and its prognostic significance.
Cone-Rod Dystrophies
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Retinal imaging in inherited retinal diseases.
Congenital Abnormalities
Identification of genes related to beak deformity of chickens using digital gene expression profiling.
Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatment.
Craniocerebral Trauma
Patterns of paediatric emergency presentations to a tertiary referral centre in the Northern Territory.
Crohn Disease
Human CD14+ macrophages in intestinal lamina propria exhibit potent antigen-presenting ability.
Cross Infection
Trends in Bacteremia Over 2 Decades in the Top End of the Northern Territory of Australia.
Dental Caries
Rella Christensen, RDH, PhD, discusses what it takes to stop a developing carious lesion.
Diabetic Retinopathy
Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision and Genetically Associated With Severe Retinal Diseases.
Epilepsy
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.
Esophageal Neoplasms
Identification of Critical Genes and Proteins for Stent Restenosis Induced by Esophageal Benign Hyperplasia in Esophageal Cancer.
Essential Hypertension
Clinical utility and applicability of smoothness index, normalized smoothness index and individualized RDH index during treatment of essential hypertension.
Eye Diseases
Retinal imaging in inherited retinal diseases.
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]
Febrile Neutropenia
Retrospective review of febrile neutropenia in the Royal Darwin Hospital, 1994-99.
Glioma
NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 in malignant glioma.
Retinol dehydrogenase 10 promotes metastasis of glioma cells via the transforming growth factor-?/SMAD signaling pathway.
Retinol dehydrogenase-10 promotes development and progression of human glioma via the TWEAK-NF-?B axis.
Granulomatous Disease, Chronic
[Chronic granulomatous disease recognised in 42-years-old patient.]
Gyrate Atrophy
Retinal imaging in inherited retinal diseases.
Hydrops Fetalis
What are the most common first-trimester ultrasound findings in cases of Turner syndrome?
Hyperopia
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Hypertension
[The normalized smoothness index and parametric population RDH index of losartan in patients with newly diagnosed hypertension and metabolic syndrome].
[The normalized smoothness index and parametric population RDH index of telmisartane in patients with newly diagnosed hypertension and metabolic syndrome]
Infections
Epstein-Barr virus lytic infection induces retinoic acid-responsive genes through induction of a retinol-metabolizing enzyme, DHRS9.
[Neonatal group B streptococcal pneumonia and right-sided diaphragmatic hernia: report of one case]
Insulin Resistance
Abnormal Expression of Genes Involved in Inflammation, Lipid Metabolism, and Wnt Signaling in the Adipose Tissue of Polycystic Ovary Syndrome.
Leber Congenital Amaurosis
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration.
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Novel RDH12 sequence variations in Leber congenital amaurosis.
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12.
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Retinal imaging in inherited retinal diseases.
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.
Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress.
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
Yeast ENV9 encodes a conserved lipid droplet (LD) short-chain dehydrogenase involved in LD morphology.
Liver Diseases
[Markers of the hepatitis B virus in the blood serum and liver tissue in chronic diffuse diseases]
Liver Failure
The Analysis of Posthepatectomy Liver Failure Incidence and Risk Factors Among Right Liver Living Donors According to International Study Group of Liver Surgery Definition.
Lymphatic Metastasis
Downregulation of DHRS9 expression in colorectal cancer tissues and its prognostic significance.
Lymphoma
Consensus guidelines for 'rainy day' autologous stem cell harvests in New South Wales.
Macular Degeneration
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Retinal imaging in inherited retinal diseases.
Metabolic Syndrome
[The normalized smoothness index and parametric population RDH index of telmisartane in patients with newly diagnosed hypertension and metabolic syndrome]
Microcephaly
Short-chain dehydrogenase/reductase rdhe2 is a novel retinol dehydrogenase essential for frog embryonic development.
Microphthalmos
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Mite Infestations
Flexible spatial organization of urban foxes, Vulpes vulpes, before and during an outbreak of sarcoptic mange.
Multiple Myeloma
Consensus guidelines for 'rainy day' autologous stem cell harvests in New South Wales.
[Gene expression of key enzymes for all-trans- retinoic acid biosynthesis - ALDHJAI and RDH10: relationship with co-expression of nuclear receptors RAR? and PPAR?/? genes and some clinical characteristics in multiple myeloma.
Myopia
Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese.
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]
Neoplasm Metastasis
Downregulation of DHRS9 expression in colorectal cancer tissues and its prognostic significance.
Retinol dehydrogenase 10 promotes metastasis of glioma cells via the transforming growth factor-?/SMAD signaling pathway.
Neoplasms
Bioinformatic Analysis Suggests That Three Hub Genes May Be a Vital Prognostic Biomarker in Pancreatic Ductal Adenocarcinoma.
CDK11 is required for transcription of replication-dependent histone genes.
Clinical significance and function of RDH16 as a tumor-suppressing gene in hepatocellular carcinoma.
Downregulation of DHRS9 expression in colorectal cancer tissues and its prognostic significance.
Downregulation of DHRS9 is associated with poor prognosis in oral squamous cell carcinoma.
Identification of genes associated with non-small-cell lung cancer promotion and progression.
NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 in malignant glioma.
Prognostic Impact of DHRS9 Overexpression in Pancreatic Cancer.
Redox Dyshomeostasis Strategy for Hypoxic Tumor Therapy Based on DNAzyme-Loaded Electrophilic ZIFs.
Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma.
Retinol dehydrogenase-10 promotes development and progression of human glioma via the TWEAK-NF-?B axis.
Retrospective review of febrile neutropenia in the Royal Darwin Hospital, 1994-99.
Transcriptome profiling of the cancer and adjacent nontumor tissues from cervical squamous cell carcinoma patients by RNA sequencing.
[Cellular immunity indices in osteogenic sarcoma]
Night Blindness
Redundant and unique roles of retinol dehydrogenases in the mouse retina.
Retinal imaging in inherited retinal diseases.
Non-alcoholic Fatty Liver Disease
HSD17B13 is a Hepatic Retinol Dehydrogenase Associated with Histological Features of Non-Alcoholic Fatty Liver Disease.
Obesity, Abdominal
Gene expression profile following an oral unsaturated fat load in abdominal obese subjects.
Osteosarcoma
[Cellular immunity indices in osteogenic sarcoma]
Pancreatic Neoplasms
Prognostic Impact of DHRS9 Overexpression in Pancreatic Cancer.
TSPAN1, TMPRSS4, SDR16C5, and CTSE as Novel Panel for Pancreatic Cancer: A Bioinformatics Analysis and Experiments Validation.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Biallelic deletion and loss of expression analysis of genes at FRA2G common fragile site in tumor-derived cell lines.
Prostatic Hyperplasia
Pre-receptor regulation of the androgen receptor.
Psoriasis
Biochemical characterization of human epidermal retinol dehydrogenase 2.
Pulmonary Disease, Chronic Obstructive
Identification of Proteomic Signatures in Chronic Obstructive Pulmonary Disease Emphysematous Phenotype.
Retinal Degeneration
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates.
Evidence that proteosome inhibitors and chemical chaperones can rescue the activity of retinol dehydrogenase 12 mutant T49M.
Gene Therapy for Rdh12-Associated Retinal Diseases Helps to Delay Retinal Degeneration and Vision Loss.
Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.
Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12.
Requirement for an enzymatic visual cycle in Drosophila.
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Retinal Diseases
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Retinal Dystrophies
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration.
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
Macula-predominant retinopathy associated with biallelic variants in RDH12.
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.
Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Rdh12 activity and effects on retinoid processing in the murine retina.
Redundant and unique roles of retinol dehydrogenases in the mouse retina.
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Retinal reductase activity in rats with and without inherited retinal dystrophy.
Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice.
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.
Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress.
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Retinitis Pigmentosa
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Large choroidal excavation in retinitis pigmentosa: A case report.
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India.
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Retinoschisis
Retinal imaging in inherited retinal diseases.
Seizures
High frequency oscillations are less frequent but more specific to epileptogenicity during rapid eye movement sleep.
Squamous Cell Carcinoma of Head and Neck
Downregulation of DHRS9 is associated with poor prognosis in oral squamous cell carcinoma.
Prognostic value of lipid metabolism-related genes in head and neck squamous cell carcinoma.
Stargardt Disease
ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal.
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.
Thrombosis
Clinical significance and function of RDH16 as a tumor-suppressing gene in hepatocellular carcinoma.
Triple Negative Breast Neoplasms
In silico screening using bulk and single-cell RNA-seq data identifies RIMS2 as a prognostic marker in basal-like breast cancer: A retrospective study.
Virus Diseases
Epstein-Barr virus lytic infection induces retinoic acid-responsive genes through induction of a retinol-metabolizing enzyme, DHRS9.
Vision Disorders
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice.
Vitelliform Macular Dystrophy
Retinal imaging in inherited retinal diseases.