Literature DB >> 15180241

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

Stephen P Daiger1, Lori S Sullivan, Sara J Bowne, Avril Kennan, Peter Humphries, David G Birch, John R Heckenlively.   

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Year:  2003        PMID： 15180241      PMCID： PMC2583078          DOI： 10.1007/978-1-4615-0067-4_1

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


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  23 in total

1.  RP1 protein truncating mutations predominate at the RP1 adRP locus.

Authors:  A Payne; E Vithana; S Khaliq; A Hameed; J Deller; L Abu-Safieh; S Kermani; B P Leroy; S Q Mehdi; A T Moore; A C Bird; S S Bhattacharya
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-12       Impact factor: 4.799

2.  Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig.

Authors:  R E McGuire; S A Jordan; V V Braden; G G Bouffard; P Humphries; E D Green; S P Daiger
Journal:  Genome Res       Date:  1996-04       Impact factor: 9.043

3.  Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.

Authors:  L L Field; J R Heckenlively; R S Sparkes; C A Garcia; C Farson; D Zedalis; M C Sparkes; M Crist; S Tideman; M A Spence
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

4.  Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).

Authors:  E L Berson; J L Grimsby; S M Adams; T L McGee; E Sweklo; E A Pierce; M A Sandberg; T P Dryja
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-09       Impact factor: 4.799

5.  Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

Authors:  Z Mohamed; C Bell; H M Hammer; C A Converse; L Esakowitz; N E Haites
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

6.  Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.

Authors:  Jiangang Gao; Kyeongmi Cheon; Steven Nusinowitz; Qin Liu; Di Bei; Karen Atkins; Asif Azimi; Stephen P Daiger; Debora B Farber; John R Heckenlively; Eric A Pierce; Lori S Sullivan; Jian Zuo
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-16       Impact factor: 11.205

7.  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

8.  Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family.

Authors:  R E McGuire; A M Gannon; L S Sullivan; J A Rodriguez; S P Daiger
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

9.  Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.

Authors:  S A Jordan; G J Farrar; P Kenna; M M Humphries; D M Sheils; R Kumar-Singh; E M Sharp; N Soriano; C Ayuso; J Benitez
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330

10.  An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.

Authors:  J M Millán; F Martínez; C Vilela; M Beneyto; F Prieto; C Nájera
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132
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  3 in total

Review 1.  IMP dehydrogenase: structure, mechanism, and inhibition.

Authors:  Lizbeth Hedstrom
Journal:  Chem Rev       Date:  2009-07       Impact factor: 60.622

2.  Phototransduction Influences Metabolic Flux and Nucleotide Metabolism in Mouse Retina.

Authors:  Jianhai Du; Austin Rountree; Whitney M Cleghorn; Laura Contreras; Ken J Lindsay; Martin Sadilek; Haiwei Gu; Danijel Djukovic; Dan Raftery; Jorgina Satrústegui; Mark Kanow; Lawrence Chan; Stephen H Tsang; Ian R Sweet; James B Hurley
Journal:  J Biol Chem       Date:  2015-12-16       Impact factor: 5.157

3.  Activation of liver X receptor delayed the retinal degeneration of rd1 mice through modulation of the immunological function of glia.

Authors:  Xiao He; Dayu Sun; Siyu Chen; Haiwei Xu
Journal:  Oncotarget       Date:  2017-05-09
  3 in total

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