Literature DB >> 8034329

The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3.

C P Hamel1, N A Jenkins, D J Gilbert, N G Copeland, T M Redmond.   

Abstract

The human and murine chromosomal localization for the gene for the retinal pigment epithelium-specific protein RPE65 was determined. Using interspecific backcross analysis, we mapped Rpe65 to the distal end of mouse chromosome 3. In the human, using a human-hamster hybrid panel, RPE65 was mapped to chromosome 1. By the use of fluorescence in situ hybridization, this localization was refined to 1p31. The mouse and human loci for this potential candidate gene for hereditary retinal disease do not match those of any known disease in mouse or man.

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Year:  1994        PMID： 8034329     DOI： 10.1006/geno.1994.1212

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  17 in total

1.  Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium.

Authors:  H Sun; D J Gilbert; N G Copeland; N A Jenkins; J Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  1997-09-02       Impact factor: 11.205

Review 2.  Genetic factors of age-related macular degeneration.

Authors:  Jingsheng Tuo; Christine M Bojanowski; Chi-Chao Chan
Journal:  Prog Retin Eye Res       Date:  2004-03       Impact factor: 21.198

3.  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

Review 4.  RPE65: role in the visual cycle, human retinal disease, and gene therapy.

Authors:  Xue Cai; Shannon M Conley; Muna I Naash
Journal:  Ophthalmic Genet       Date:  2009-06       Impact factor: 1.803

Review 5.  Key enzymes of the retinoid (visual) cycle in vertebrate retina.

Authors:  Philip D Kiser; Marcin Golczak; Akiko Maeda; Krzysztof Palczewski
Journal:  Biochim Biophys Acta       Date:  2011-04-05

6.  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

Review 7.  Molecular aspects of retinal degenerative diseases.

Authors:  S Lev
Journal:  Cell Mol Neurobiol       Date:  2001-12       Impact factor: 5.046

Review 8.  A Systematic Review and Meta-Analyses of Interventional Clinical Trial Studies for Gene Therapies for the Inherited Retinal Degenerations (IRDs).

Authors:  Gearóid P Tuohy; Roly Megaw
Journal:  Biomolecules       Date:  2021-05-19

9.  A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

Authors:  K L Anderson; L Baird; R A Lewis; A C Chinault; B Otterud; M Leppert; J R Lupski
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

10.  Retinal Gene Therapy: Current Progress and Future Prospects.

Authors:  Cristy A Ku; Mark E Pennesi
Journal:  Expert Rev Ophthalmol       Date:  2015-04-10
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