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

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
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
Retinol dehydrogenase 10 is indispensible for spermatogenesis in juvenile males.
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.
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Novel RDH12 sequence variations in 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.
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
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?
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
Retinoid acid receptor expression is helpful to distinguish between adenoma and well-differentiated carcinoma in the thyroid.
Carcinoma, Hepatocellular
Forced expression of RDH10 gene retards growth of HepG2 cells.
Insulin Regulates Retinol Dehydrogenase Expression and All-trans-retinoic Acid Biosynthesis through FoxO1.
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
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
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.
Crohn Disease
Human CD14+ macrophages in intestinal lamina propria exhibit potent antigen-presenting ability.
Eye 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.
Granulomatous Disease, Chronic
[Chronic granulomatous disease recognised in 42-years-old patient.]
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
Clinical utility and applicability of smoothness index, normalized smoothness index and individualized RDH index during treatment of essential 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]
Infection
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
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Novel RDH12 sequence variations in 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.
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
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?
Liver Diseases
[Markers of the hepatitis B virus in the blood serum and liver tissue in chronic diffuse diseases]
Lymphoma
Consensus guidelines for 'rainy day' autologous stem cell harvests in New South Wales.
Macular Degeneration
ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal.
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.
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.
Neoplasms
Downregulation of DHRS9 expression in colorectal cancer tissues and its prognostic significance.
Identification of genes associated with non-small-cell lung cancer promotion and progression.
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.
Osteosarcoma
[Cellular immunity indices in osteogenic sarcoma]
Pain
Treatment of Recurrent Disc Herniation: A Systematic Review.
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.
Retinal Degeneration
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
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.
Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.
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, 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.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Retinal Dystrophies
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.
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.
Rdh12 activity and effects on retinoid processing in the murine retina.
Redundant and unique roles of retinol dehydrogenases in the mouse retina.
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 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.
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India.
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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.
Seizures
High frequency oscillations are less frequent but more specific to epileptogenicity during rapid eye movement sleep.
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.