Literature DB >> 18188946

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

Stephen P Daiger1, Lori S Sullivan, Anisa I Gire, David G Birch, John R Heckenlively, Sara J Bowne.   

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Year:  2008        PMID： 18188946      PMCID： PMC2582019          DOI： 10.1007/978-0-387-74904-4_23

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  15 in total

1.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

2.  SIFT: Predicting amino acid changes that affect protein function.

Authors:  Pauline C Ng; Steven Henikoff
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

Review 3.  Perspective on genes and mutations causing retinitis pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Arch Ophthalmol       Date:  2007-02

4.  Amino acid difference formula to help explain protein evolution.

Authors:  R Grantham
Journal:  Science       Date:  1974-09-06       Impact factor: 47.728

5.  Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

Authors:  J-M Rozet; I Perrault; N Gigarel; E Souied; I Ghazi; S Gerber; J-L Dufier; A Munnich; J Kaplan
Journal:  J Med Genet       Date:  2002-04       Impact factor: 6.318

6.  Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.

Authors:  J E Sears; T A Aaberg; S P Daiger; D M Moshfeghi
Journal:  Am J Ophthalmol       Date:  2001-11       Impact factor: 5.258

7.  A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Authors:  K Kajiwara; M A Sandberg; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

8.  Human non-synonymous SNPs: server and survey.

Authors:  Vasily Ramensky; Peer Bork; Shamil Sunyaev
Journal:  Nucleic Acids Res       Date:  2002-09-01       Impact factor: 16.971

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Authors:  R Vervoort; A Lennon; A C Bird; B Tulloch; R Axton; M G Miano; A Meindl; T Meitinger; A Ciccodicola; A F Wright
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330
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  17 in total

1.  Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration.

Authors:  Lijuan Zhang; Jianhai Du; Sally Justus; Chun-Wei Hsu; Luis Bonet-Ponce; Wen-Hsuan Wu; Yi-Ting Tsai; Wei-Pu Wu; Yading Jia; Jimmy K Duong; Vinit B Mahajan; Chyuan-Sheng Lin; Shuang Wang; James B Hurley; Stephen H Tsang
Journal:  J Clin Invest       Date:  2016-11-14       Impact factor: 14.808

2.  Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Authors:  Lori S Sullivan; Sara J Bowne; Melissa J Reeves; Delphine Blain; Kerry Goetz; Vida Ndifor; Sally Vitez; Xinjing Wang; Santa J Tumminia; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-19       Impact factor: 4.799

3.  Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23.

Authors:  Chitra Kannabiran; Hardeep Pal Singh; Subhadra Jalali
Journal:  Hum Genet       Date:  2011-11-15       Impact factor: 4.132

Review 4.  Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Authors:  Anna M Siemiatkowska; Rob W J Collin; Anneke I den Hollander; Frans P M Cremers
Journal:  Cold Spring Harb Perspect Med       Date:  2014-06-17       Impact factor: 6.915

5.  Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Authors:  Jennifer D Churchill; Sara J Bowne; Lori S Sullivan; Richard Alan Lewis; Dianna K Wheaton; David G Birch; Kari E Branham; John R Heckenlively; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-02-19       Impact factor: 4.799

Review 6.  Molecular basis for photoreceptor outer segment architecture.

Authors:  Andrew F X Goldberg; Orson L Moritz; David S Williams
Journal:  Prog Retin Eye Res       Date:  2016-06-01       Impact factor: 21.198

7.  A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

Authors:  Lori S Sullivan; Daniel C Koboldt; Sara J Bowne; Steven Lang; Susan H Blanton; Elizabeth Cadena; Cheryl E Avery; Richard A Lewis; Kaylie Webb-Jones; Dianna H Wheaton; David G Birch; Razck Coussa; Huanan Ren; Irma Lopez; Christina Chakarova; Robert K Koenekoop; Charles A Garcia; Robert S Fulton; Richard K Wilson; George M Weinstock; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-09-04       Impact factor: 4.799

8.  Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan; Susan H Blanton; George M Weinstock; Daniel C Koboldt; Robert S Fulton; David Larsen; Peter Humphries; Marian M Humphries; Eric A Pierce; Rui Chen; Yumei Li
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

9.  Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.

Authors:  Lijuan Zhang; Sally Justus; Yu Xu; Tamara Pluchenik; Chun-Wei Hsu; Jin Yang; Jimmy K Duong; Chyuan-Sheng Lin; Yading Jia; Alexander G Bassuk; Vinit B Mahajan; Stephen H Tsang
Journal:  Hum Mol Genet       Date:  2016-08-11       Impact factor: 6.150

Review 10.  Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.

Authors:  Kristy Lee; Seema Garg
Journal:  Genet Med       Date:  2015-03-19       Impact factor: 8.822
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