Literature DB >> 7981698

Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.

M Nakazawa1, E Kikawa, Y Chida, M Tamai.   

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Year:  1994        PMID： 7981698     DOI： 10.1093/hmg/3.7.1195

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  13 in total

1.  RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Authors:  S Kohl; M Christ-Adler; E Apfelstedt-Sylla; U Kellner; A Eckstein; E Zrenner; B Wissinger
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

Authors:  Muhammad Ismail; Aiysha Abid; Khalid Anwar; S Qasim Mehdi; Shagufta Khaliq
Journal:  J Hum Genet       Date:  2006-08-03       Impact factor: 3.172

3.  Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Authors:  M M Sohocki; S P Daiger; S J Bowne; J A Rodriquez; H Northrup; J R Heckenlively; D G Birch; H Mintz-Hittner; R S Ruiz; R A Lewis; D A Saperstein; L S Sullivan
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

4.  Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.

Authors:  Shannon M Conley; Michael W Stuck; Justin L Burnett; Dibyendu Chakraborty; Seifollah Azadi; Steven J Fliesler; Muna I Naash
Journal:  Hum Mol Genet       Date:  2014-01-25       Impact factor: 6.150

5.  A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Authors:  M M Sohocki; L S Sullivan; H A Mintz-Hittner; D Birch; J R Heckenlively; C L Freund; R R McInnes; S P Daiger
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

6.  Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.

Authors:  Shannon M Conley; Heidi M Stricker; Muna I Naash
Journal:  Biochemistry       Date:  2010-02-09       Impact factor: 3.162

7.  Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.

Authors:  Dibyendu Chakraborty; Karla K Rodgers; Shannon M Conley; Muna I Naash
Journal:  FEBS J       Date:  2012-11-22       Impact factor: 5.542

8.  Genetic association of apolipoprotein E with age-related macular degeneration.

Authors:  C C Klaver; M Kliffen; C M van Duijn; A Hofman; M Cruts; D E Grobbee; C van Broeckhoven; P T de Jong
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

Review 9.  Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.

Authors:  Benjamin M Nash; Dale C Wright; John R Grigg; Bruce Bennetts; Robyn V Jamieson
Journal:  Transl Pediatr       Date:  2015-04

10.  Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.

Authors:  Shannon Conley; May Nour; Steven J Fliesler; Muna I Naash
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-12       Impact factor: 4.799
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