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RDH12 gene

Known as: RETINOL DEHYDROGENASE, ALL-TRANS AND 9-CIS, SDR7C2, short chain dehydrogenase/reductase family 7C, member 2 
National Institutes of Health

Related topics

Related topics

3 relations
RDH13 geneRDH14 geneRETINITIS PIGMENTOSA 53

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
AB0122 Rp53 induces ectodomain shedding of tnf receptor 1 and thereby inhibits inflammatory responses in rheumatoid fibroblast-like synoviocytes
Background Rheumatoid arthritis (RA) is a chronic inflammatory disease by autoimmune disorder that primarily affects joints… 
2017
2017
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis
Leber congenital amaurosis (LCA) is a group of clinically and genetically heterogeneous retinal dystrophy. To date, 22 genes are… 
2017
2017
Yeast ENV9 encodes a conserved lipid droplet (LD) short-chain dehydrogenase involved in LD morphology
Lipid droplets (LDs) have emerged as dynamic and interactive organelles with important roles in lipid metabolism and membrane… 
2015
2015
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa
Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the… 
2014
2014
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Leber congenital amaurosis (LCA) causes severe visual impairment and blindness very early in life. Mutant alleles of several… 
2012
2012
Carcinine has 4-hydroxynonenal scavenging property and neuroprotective effect in mouse retina.
PURPOSE Oxidative stress induces retinal damage and contributes to vision loss in progressive retinopathies. Carcinine (β-alanyl… 
2011
2011
Evidence that proteosome inhibitors and chemical chaperones can rescue the activity of retinol dehydrogenase 12 mutant T49M.
2010
2010
Disease‐associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant‐specific rates
Review
2008
Review
2008
Focus on molecules: retinol dehydrogenase 12 (RDH12).
2008
2008
Function of human retinol dehydrogenase 12 (RDH12) in retinoid metabolism
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