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1993 3
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2004 4
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2009 12
2010 9
2011 4
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133 results
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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 …
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. ... …
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 …
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, …
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
Feathers KL, Jia L, Perera ND, Chen A, Presswalla FK, Khan NW, Fahim AT, Smith AJ, Ali RR, Thompson DA. Feathers KL, et al. Hum Gene Ther. 2019 Nov;30(11):1325-1335. doi: 10.1089/hum.2019.017. Epub 2019 Aug 5. Hum Gene Ther. 2019. PMID: 31237438 Free PMC article.
Individuals with RDH12 deficiency exhibit widespread retinal degeneration impacting both rods and cones. Although Rdh12-deficient (Rdh12(-)(/-)) mice do not exhibit retinal degeneration, functional deficits relevant to visual cycle function can be demonstrate …
Individuals with RDH12 deficiency exhibit widespread retinal degeneration impacting both rods and cones. Although Rdh12-defici …
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. Zou X, et al. Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. Retina. 2019. PMID: 30134391
PURPOSE: To characterize the phenotypic variability and report the genetic defects in a cohort of Chinese patients with biallelic variants of the retinol dehydrogenase 12 (RDH12) gene. METHODS: The study included 38 patients from 38 unrelated families with biallelic pathog …
PURPOSE: To characterize the phenotypic variability and report the genetic defects in a cohort of Chinese patients with biallelic variants o …
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2017 Jan 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2000 Aug 4 [updated 2017 Jan 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301590 Free Books & Documents. Review.
Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis.
Jauregui R, Cho A, Xu CL, Tanaka AJ, Sparrow JR, Tsang SH. Jauregui R, et al. Ophthalmic Genet. 2020 Apr;41(2):198-200. doi: 10.1080/13816810.2020.1737949. Epub 2020 Mar 16. Ophthalmic Genet. 2020. PMID: 32172635 Free PMC article. No abstract available.
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA, Place EM, Ferenchak K, Zampaglione E, Wagner NE, Chao KR, DiTroia SP, Navarro-Gomez D, Mukai S, Huckfeldt RM, Pierce EA, Bujakowska KM. Scott HA, et al. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004754. doi: 10.1101/mcs.a004754. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014858 Free PMC article.
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. ...The broad phenotypic spectrum observed with biallelic RDH12 mutations has been observed in other genetic forms of IRDs, but the diversity is part …
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. ...The broad ph …
Macula-predominant retinopathy associated with biallelic variants in RDH12.
Ba-Abbad R, Arno G, Robson AG, Bouras K, Georgiou M, Wright G, Webster AR, Michaelides M. Ba-Abbad R, et al. Ophthalmic Genet. 2020 Dec;41(6):612-615. doi: 10.1080/13816810.2020.1802763. Epub 2020 Aug 13. Ophthalmic Genet. 2020. PMID: 32790509
PERG showed macular dysfunction, but the full-field ERG was normal. NGS and whole-genome sequencing identified two variants in RDH12: p.(Arg234His) and p.(Cys245_Leu247deI) in trans. CONCLUSIONS: Disease-causing variants in RDH12 are typically associated with early- …
PERG showed macular dysfunction, but the full-field ERG was normal. NGS and whole-genome sequencing identified two variants in RDH12: …
133 results