Associated Papers
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
AlEissa MM et al.
Genes, 2025
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M et al.
Ophthalmology. Retina, 2024
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
35994252 (PubMed )
Supplement: iovs-63-9-24_s004.xlsx › Sheet1
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Sofia F et al.
Translational Vision Science & Technology, 2020
32855876 (PubMed )
Supplement: tvst-9-8-30_s001.docx
Evidence that proteosome inhibitors and chemical chaperones can rescue the activity of retinol dehydrogenase 12 mutant T49M.
Lee SA et al.
Chemico-biological Interactions, 2011
Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates.
Lee SA et al.
Febs Letters, 2010
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI et al.
Progress in Retinal and Eye Research, 2008
Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.
Lee SA et al.
The Journal of Biological Chemistry, 2007
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Perrault I et al.
American Journal of Human Genetics, 2004
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