Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
2000 1
2002 1
2004 4
2005 5
2006 5
2007 9
2008 11
2009 12
2010 9
2011 4
2012 4
2013 6
2014 7
2015 7
2016 6
2017 5
2018 5
2019 10
2020 15
2021 17
2022 12
2023 11

Text availability

Article attribute

Article type

Publication date

Search Results

144 results

Results by year

Filters applied: . Clear all
Page 1
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Sarkar H, Moosajee M. Sarkar H, et al. Exp Eye Res. 2019 Nov;188:107793. doi: 10.1016/j.exer.2019.107793. Epub 2019 Sep 7. Exp Eye Res. 2019. PMID: 31505163 Review.
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photoreceptors. ...A number of in-vitro studies have shown that mutations in RDH12 result in little or no enzyme activity. Knockout mouse models …
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photorecept …
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT, Thompson DA. Fahim AT, et al. Adv Exp Med Biol. 2019;1185:209-213. doi: 10.1007/978-3-030-27378-1_34. Adv Exp Med Biol. 2019. PMID: 31884613 Free PMC article. Review.
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ...RDH12-associated retinal degeneration is particularly devastating due to early macular atrophy, which will likely impact therapeutic ou …
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ... …
RDH12 retinopathy: clinical features, biology, genetics and future directions.
Daich Varela M, Michaelides M. Daich Varela M, et al. Ophthalmic Genet. 2022 May 2;43(3):1-6. doi: 10.1080/13816810.2022.2062392. Online ahead of print. Ophthalmic Genet. 2022. PMID: 35491887 Free PMC article.
Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. ...Future directions: There is currently no treatment available for RDH12-retinopathy. However, extensive preclinical investigations and …
Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. ...F …
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301590 Free Books & Documents. Review.
Gene Therapy for Rdh12-Associated Retinal Diseases Helps to Delay Retinal Degeneration and Vision Loss.
Bian J, Chen H, Sun J, Cao Y, An J, Pan Q, Qi M. Bian J, et al. Drug Des Devel Ther. 2021 Aug 17;15:3581-3591. doi: 10.2147/DDDT.S305378. eCollection 2021. Drug Des Devel Ther. 2021. PMID: 34429587 Free PMC article.
PURPOSE: The aim of study was to establish Rdh12-associated inherited retinal disease (Rdh12-IRD) mouse model and to identify the best timepoint for gene therapy. ...Rdh12-IRD mice received a subretinal injection of adeno-associated virus 2/8-packaged Rdh1 …
PURPOSE: The aim of study was to establish Rdh12-associated inherited retinal disease (Rdh12-IRD) mouse model and to identify …
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
Sarkar H, Toms M, Moosajee M. Sarkar H, et al. Int J Mol Sci. 2021 Aug 18;22(16):8863. doi: 10.3390/ijms22168863. Int J Mol Sci. 2021. PMID: 34445569 Free PMC article.
Mutations in RDH12 are primarily associated with autosomal recessive Leber congenital amaurosis. ...Pregabalin, a retinal scavenger, attenuated atRAL-induced ER stress in the mutant RDH12 cell lines. A zebrafish rdh12 mutant model (rdh12(u533) c.17_23d …
Mutations in RDH12 are primarily associated with autosomal recessive Leber congenital amaurosis. ...Pregabalin, a retinal scavenger, …
Focus on molecules: retinol dehydrogenase 12 (RDH12).
Moradi P, Mackay D, Hunt DM, Moore AT. Moradi P, et al. Exp Eye Res. 2008 Sep;87(3):160-1. doi: 10.1016/j.exer.2008.05.013. Epub 2008 Jul 2. Exp Eye Res. 2008. PMID: 18599039 Review. No abstract available.
Rdh12 activity and effects on retinoid processing in the murine retina.
Chrispell JD, Feathers KL, Kane MA, Kim CY, Brooks M, Khanna R, Kurth I, Hübner CA, Gal A, Mears AJ, Swaroop A, Napoli JL, Sparrow JR, Thompson DA. Chrispell JD, et al. J Biol Chem. 2009 Aug 7;284(32):21468-77. doi: 10.1074/jbc.M109.020966. Epub 2009 Jun 8. J Biol Chem. 2009. PMID: 19506076 Free PMC article.
To investigate the function of RDH12 within the network of retinoid dehydrogenases/reductases (RDHs) present in retina, we studied the retinal phenotype of Rdh12-deficient mice. ...However, retinal homogenates from Rdh12-deficient mice exhibited markedly decr …
To investigate the function of RDH12 within the network of retinoid dehydrogenases/reductases (RDHs) present in retina, we studied th …
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Kuo CY, Chung MY, Chen SJ. Kuo CY, et al. J Med Genet. 2023 Sep;60(9):859-865. doi: 10.1136/jmg-2022-108918. Epub 2023 Jan 23. J Med Genet. 2023. PMID: 36690427 Free PMC article.
Genomic DNA sequencing was performed using whole exome sequencing or direct sequencing of retinol dehydrogenase 12 (RDH12) coding exons. RESULTS: Seven patients, including one male and six female patients, with pseudocoloboma-like maculopathy had biallelic missense RDH1 …
Genomic DNA sequencing was performed using whole exome sequencing or direct sequencing of retinol dehydrogenase 12 (RDH12) coding exo …
144 results