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171 results

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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 …
Retinol dehydrogenase 12 (RDH12) knock out may cause hyperuricemia phenotype in mice.
Bian J, Chen H, Sun J, Han S, Qi M, Pan Q. Bian J, et al. Biochem Biophys Res Commun. 2024 May 21;709:149809. doi: 10.1016/j.bbrc.2024.149809. Epub 2024 Mar 20. Biochem Biophys Res Commun. 2024. PMID: 38552555
We assessed Rdh12 mRNA expression levels in various tissues and conducted serum biochemical analyses in Rdh12(-/-) mice. ...And renal histology assessment exposed mild pathological lesions in the kidneys of Rdh12(-/-) mice. In summary, our study suggests that …
We assessed Rdh12 mRNA expression levels in various tissues and conducted serum biochemical analyses in Rdh12(-/-) mice. ...An …
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301590 Free Books & Documents. Review.
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 …
RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods.
Kaylor JJ, Frederiksen R, Bedrosian CK, Huang M, Stennis-Weatherspoon D, Huynh T, Ngan T, Mulamreddy V, Sampath AP, Fain GL, Travis GH. Kaylor JJ, et al. Curr Biol. 2024 Aug 5;34(15):3342-3353.e6. doi: 10.1016/j.cub.2024.06.031. Epub 2024 Jul 8. Curr Biol. 2024. PMID: 38981477 Free article.
The human protein most similar to ZCRDH is RDH12. By immunocytochemistry, ZCRDH was abundantly present in cone inner segments, similar to the reported distribution of RDH12. Finally, RDH12 was the only mammalian candidate protein to exhibit 11cROL-oxidase cat …
The human protein most similar to ZCRDH is RDH12. By immunocytochemistry, ZCRDH was abundantly present in cone inner segments, simila …
The Role of Vitamin A in Retinal Diseases.
Sajovic J, Meglič A, Glavač D, Markelj Š, Hawlina M, Fakin A. Sajovic J, et al. Int J Mol Sci. 2022 Jan 18;23(3):1014. doi: 10.3390/ijms23031014. Int J Mol Sci. 2022. PMID: 35162940 Free PMC article. Review.
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 …
171 results