Literature DB >> 22183348

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Abigail T Fahim1, Sara J Bowne, Lori S Sullivan, Kaylie D Webb, Jessica T Williams, Dianna K Wheaton, David G Birch, Stephen P Daiger.   

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Year:  2012        PMID： 22183348      PMCID： PMC4114075          DOI： 10.1007/978-1-4614-0631-0_41

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


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  29 in total

1.  Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Authors:  T P Dryja; S M Adams; J L Grimsby; T L McGee; D H Hong; T Li; S Andréasson; E L Berson
Journal:  Am J Hum Genet       Date:  2001-03-29       Impact factor: 11.025

2.  Methodology for using a universal primer to label amplified DNA segments for molecular analysis.

Authors:  Dong-Chuan Guo; Dianna M Milewicz
Journal:  Biotechnol Lett       Date:  2003-12       Impact factor: 2.461

3.  The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

Authors:  R Roepman; N Bernoud-Hubac; D E Schick; A Maugeri; W Berger; H H Ropers; F P Cremers; P A Ferreira
Journal:  Hum Mol Genet       Date:  2000-09-01       Impact factor: 6.150

4.  X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

Authors:  F Yesim K Demirci; Brian W Rigatti; Gaiping Wen; Amy L Radak; Tammy S Mah; Corrine L Baic; Elias I Traboulsi; Tiina Alitalo; Juliane Ramser; Michael B Gorin
Journal:  Am J Hum Genet       Date:  2002-02-20       Impact factor: 11.025

5.  A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.

Authors:  S Grover; G A Fishman; R J Anderson; M Lindeman
Journal:  Ophthalmology       Date:  2000-02       Impact factor: 12.079

6.  Mutations in the RPGR gene cause X-linked cone dystrophy.

Authors:  Zhenglin Yang; Neal S Peachey; Darius M Moshfeghi; Sukanya Thirumalaichary; Lou Chorich; Yin Y Shugart; Keke Fan; Kang Zhang
Journal:  Hum Mol Genet       Date:  2002-03-01       Impact factor: 6.150

7.  X-linked recessive atrophic macular degeneration from RPGR mutation.

Authors:  Radha Ayyagari; F Yesim Demirci; Jiafan Liu; Eve L Bingham; Heather Stringham; Laura E Kakuk; Michael Boehnke; Michael B Gorin; Julia E Richards; Paul A Sieving
Journal:  Genomics       Date:  2002-08       Impact factor: 5.736

8.  Natural course of retinitis pigmentosa over a three-year interval.

Authors:  E L Berson; M A Sandberg; B Rosner; D G Birch; A H Hanson
Journal:  Am J Ophthalmol       Date:  1985-03-15       Impact factor: 5.258

9.  RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.

Authors:  Dong-Hyun Hong; Basil Pawlyk; Maxim Sokolov; Katherine J Strissel; Jun Yang; Brian Tulloch; Alan F Wright; Vadim Y Arshavsky; Tiansen Li
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-06       Impact factor: 4.799

10.  Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Authors:  Lekbir Baala; Sophie Audollent; Jéléna Martinovic; Catherine Ozilou; Marie-Claude Babron; Sivanthiny Sivanandamoorthy; Sophie Saunier; Rémi Salomon; Marie Gonzales; Eleanor Rattenberry; Chantal Esculpavit; Annick Toutain; Claude Moraine; Philippe Parent; Pascale Marcorelles; Marie-Christine Dauge; Joëlle Roume; Martine Le Merrer; Vardiella Meiner; Karen Meir; Françoise Menez; Anne-Marie Beaufrère; Christine Francannet; Julia Tantau; Martine Sinico; Yves Dumez; Fiona MacDonald; Arnold Munnich; Stanislas Lyonnet; Marie-Claire Gubler; Emmanuelle Génin; Colin A Johnson; Michel Vekemans; Férechté Encha-Razavi; Tania Attié-Bitach
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025
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  7 in total

1.  Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Authors:  Qihong Zhang; Joseph C Giacalone; Charles Searby; Edwin M Stone; Budd A Tucker; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2019-01-08       Impact factor: 11.205

2.  Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial.

Authors:  Dennis R Hoffman; Dianna K Hughbanks-Wheaton; N Shirlene Pearson; Gary E Fish; Rand Spencer; Alison Takacs; Martin Klein; Kirsten G Locke; David G Birch
Journal:  JAMA Ophthalmol       Date:  2014-07       Impact factor: 7.389

3.  Genome-Wide Specific Selection in Three Domestic Sheep Breeds.

Authors:  Huihua Wang; Li Zhang; Jiaxve Cao; Mingming Wu; Xiaomeng Ma; Zhen Liu; Ruizao Liu; Fuping Zhao; Caihong Wei; Lixin Du
Journal:  PLoS One       Date:  2015-06-17       Impact factor: 3.240

4.  Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

Authors:  Liping Yang; Xiaobei Yin; Lina Feng; Debo You; Lemeng Wu; Ningning Chen; Aijun Li; Genlin Li; Zhizhong Ma
Journal:  PLoS One       Date:  2014-01-15       Impact factor: 3.240

5.  Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.

Authors:  Zhimeng Zhang; Hehua Dai; Lei Wang; Tianchang Tao; Jing Xu; Xiaowei Sun; Liping Yang; Genlin Li
Journal:  BMC Ophthalmol       Date:  2019-11-27       Impact factor: 2.209

Review 6.  Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.

Authors:  Rebecca Kingdom; Caroline F Wright
Journal:  Front Genet       Date:  2022-07-25       Impact factor: 4.772

7.  Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Authors:  Johannes Birtel; Tobias Eisenberger; Martin Gliem; Philipp L Müller; Philipp Herrmann; Christian Betz; Diana Zahnleiter; Christine Neuhaus; Steffen Lenzner; Frank G Holz; Elisabeth Mangold; Hanno J Bolz; Peter Charbel Issa
Journal:  Sci Rep       Date:  2018-03-19       Impact factor: 4.379
  7 in total

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