Literature DB >> 12960219

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.

S Yzer, L I van den Born, J Schuil, H Y Kroes, M M van Genderen, F N Boonstra, B van den Helm, H G Brunner, R K Koenekoop, F P M Cremers.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12960219      PMCID： PMC1735582          DOI： 10.1136/jmg.40.9.709

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  21 in total

Review 1.  The retinal pigment epithelium in health and disease.

Authors:  J R Sparrow; D Hicks; C P Hamel
Journal:  Curr Mol Med       Date:  2010-12       Impact factor: 2.222

2.  Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.

Authors:  Leila El Matri; Aude Ambresin; Daniel F Schorderet; Aki Kawasaki; Mathias W Seeliger; Andreas Wenzel; Yvan Arsenijevic; François-Xavier Borruat; Francis L Munier
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2006-02-28       Impact factor: 3.117

3.  Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.

Authors:  Elliot H Choi; Susie Suh; Christopher L Sander; Christian J Ortiz Hernandez; Elizabeth R Bulman; Nimesh Khadka; Zhiqian Dong; Wuxian Shi; Krzysztof Palczewski; Philip D Kiser
Journal:  Hum Mol Genet       Date:  2018-07-01       Impact factor: 6.150

4.  A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.

Authors:  Birgit Lorenz; Eugenia Poliakov; Maria Schambeck; Christoph Friedburg; Markus N Preising; T Michael Redmond
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-07-03       Impact factor: 4.799

5.  Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.

Authors:  Yan Li; Shirley Yu; Todd Duncan; Yichao Li; Pinghu Liu; Erelda Gene; Yoel Cortes-Pena; Haohua Qian; Lijin Dong; T Michael Redmond
Journal:  Hum Mol Genet       Date:  2015-05-13       Impact factor: 6.150

6.  Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium.

Authors:  Minghao Jin; Songhua Li; Walid N Moghrabi; Hui Sun; Gabriel H Travis
Journal:  Cell       Date:  2005-08-12       Impact factor: 41.582

7.  Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

Authors:  Samuel G Jacobson; Tomas S Aleman; Artur V Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Elias I Traboulsi; Elise Heon; Steven J Pittler; Ann H Milam; Albert M Maguire; Krzysztof Palczewski; Edwin M Stone; Jean Bennett
Journal:  Proc Natl Acad Sci U S A       Date:  2005-04-18       Impact factor: 11.205

Review 8.  Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Authors:  Artur V Cideciyan
Journal:  Prog Retin Eye Res       Date:  2010-04-24       Impact factor: 21.198

9.  Identification of key residues determining isomerohydrolase activity of human RPE65.

Authors:  Yusuke Takahashi; Gennadiy Moiseyev; Jian-xing Ma
Journal:  J Biol Chem       Date:  2014-08-11       Impact factor: 5.157

10.  Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.

Authors:  Karina Paunescu; Bettina Wabbels; Markus N Preising; Birgit Lorenz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-11-24       Impact factor: 3.117
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.