Literature DB >> 9556378

RP11 is the second most common locus for dominant retinitis pigmentosa.

E Vithana, M Al-Maghtheh, S S Bhattacharya, C F Inglehearn.   

Abstract

Entities:  

Mesh：

Year:  1998        PMID： 9556378      PMCID： PMC1051233          DOI： 10.1136/jmg.35.2.174-a

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


× No keyword cloud information.
  7 in total

1.  Simple tests for rhodopsin involvement in retinitis pigmentosa.

Authors:  E Tarttelin; M Al-Maghtheh; J Keen; S Bhattacharya; C Inglehearn
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

2.  A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Authors:  C F Inglehearn; E E Tarttelin; C Plant; R E Peacock; M al-Maghtheh; E Vithana; A C Bird; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

3.  Complement and complement regulatory proteins in human tears.

Authors:  M D Willcox; C A Morris; A Thakur; R A Sack; J Wickson; W Boey
Journal:  Invest Ophthalmol Vis Sci       Date:  1997-01       Impact factor: 4.799

4.  Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

Authors:  M Al-Maghtheh; E Vithana; E Tarttelin; M Jay; K Evans; T Moore; S Bhattacharya; C F Inglehearn
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

5.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Authors:  J Wells; J Wroblewski; J Keen; C Inglehearn; C Jubb; A Eckstein; M Jay; G Arden; S Bhattacharya; F Fitzke
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

6.  Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

Authors:  S H Blanton; J R Heckenlively; A W Cottingham; J Friedman; L A Sadler; M Wagner; L H Friedman; S P Daiger
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

7.  A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

Authors:  C F Inglehearn; S A Carter; T J Keen; J Lindsey; A M Stephenson; R Bashir; M al-Maghtheh; A T Moore; M Jay; A C Bird
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330
  7 in total
  9 in total

Review 1.  Pre-mRNA splicing and retinitis pigmentosa.

Authors:  Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y Wu
Journal:  Mol Vis       Date:  2006-10-26       Impact factor: 2.367

2.  Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.

Authors:  Daniel Mordes; Liya Yuan; Lili Xu; Mariko Kawada; Robert S Molday; Jane Y Wu
Journal:  Neurobiol Dis       Date:  2007-03-09       Impact factor: 5.996

3.  A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.

Authors:  Sofia Bhatia; Shiwali Goyal; Indu R Singh; Daljit Singh; Vanita Vanita
Journal:  Doc Ophthalmol       Date:  2018-08-11       Impact factor: 2.379

4.  Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.

Authors:  Liya Yuan; Mariko Kawada; Necat Havlioglu; Hao Tang; Jane Y Wu
Journal:  J Neurosci       Date:  2005-01-19       Impact factor: 6.167

5.  A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Authors:  Thomas Rio Frio; Terri L McGee; Nicholas M Wade; Christian Iseli; Jacques S Beckmann; Eliot L Berson; Carlo Rivolta
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

6.  Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.

Authors:  Jing Yu Liu; Xiaohua Dai; Jiqun Sheng; Xin Cui; Xu Wang; Xueqing Jiang; Xin Tu; Zhaohui Tang; Yan Bai; Mugen Liu; Qing K Wang
Journal:  Biochem Biophys Res Commun       Date:  2008-01-03       Impact factor: 3.575

7.  Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.

Authors:  Jun Yin; Jan Brocher; Utz Fischer; Christoph Winkler
Journal:  Mol Neurodegener       Date:  2011-07-30       Impact factor: 14.195

8.  Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

Authors:  Anna M Rose; Amna Z Shah; Giulia Venturini; Carlo Rivolta; Geoffrey E Rose; Shomi S Bhattacharya
Journal:  Ann Hum Genet       Date:  2013-10-14       Impact factor: 1.670

9.  Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Authors:  Anna M Rose; Amna Z Shah; Giulia Venturini; Abhay Krishna; Aravinda Chakravarti; Carlo Rivolta; Shomi S Bhattacharya
Journal:  Sci Rep       Date:  2016-01-19       Impact factor: 4.379
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.