Literature DB >> 17895420

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.

S Ghazawy, K Springell, V Gauba, M A McKibbin, C F Inglehearn.   

Abstract

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Year:  2007        PMID： 17895420      PMCID： PMC2000988          DOI： 10.1136/bjo.2006.105163

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  25 in total

1.  Nomenclature for the description of human sequence variations.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Genet       Date:  2001-07       Impact factor: 4.132

2.  Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Authors:  María Martínez-Gimeno; María José Gamundi; Imma Hernan; Miquel Maseras; Elena Millá; Carmen Ayuso; Blanca García-Sandoval; Magdalena Beneyto; Concha Vilela; Montserrat Baiget; Guillermo Antiñolo; Miguel Carballo
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-05       Impact factor: 4.799

Review 3.  Pre-mRNA splicing and human disease.

Authors:  Nuno André Faustino; Thomas A Cooper
Journal:  Genes Dev       Date:  2003-02-15       Impact factor: 11.361

4.  PAP-1, a novel target protein of phosphorylation by pim-1 kinase.

Authors:  H Maita; Y Harada; D Nagakubo; H Kitaura; M Ikeda; K Tamai; K Takahashi; H Ariga; S M Iguchi-Ariga
Journal:  Eur J Biochem       Date:  2000-08

5.  Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Authors:  Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; Susan H Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma P Shankar; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-07       Impact factor: 4.799

6.  Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Authors:  T Jeffrey Keen; Matthew M Hims; Arthur B McKie; Anthony T Moore; Rob M Doran; David A Mackey; David C Mansfield; Robert F Mueller; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Journal:  Eur J Hum Genet       Date:  2002-04       Impact factor: 4.246

7.  Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

Authors:  A B McKie; J C McHale; T J Keen; E E Tarttelin; R Goliath; J J van Lith-Verhoeven; J Greenberg; R S Ramesar; C B Hoyng; F P Cremers; D A Mackey; S S Bhattacharya; A C Bird; A F Markham; C F Inglehearn
Journal:  Hum Mol Genet       Date:  2001-07-15       Impact factor: 6.150

8.  A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Authors:  E N Vithana; L Abu-Safieh; M J Allen; A Carey; M Papaioannou; C Chakarova; M Al-Maghtheh; N D Ebenezer; C Willis; A T Moore; A C Bird; D M Hunt; S S Bhattacharya
Journal:  Mol Cell       Date:  2001-08       Impact factor: 17.970

9.  Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing.

Authors:  Olga V Makarova; Evgeny M Makarov; Sunbin Liu; Hans-Peter Vornlocher; Reinhard Lührmann
Journal:  EMBO J       Date:  2002-03-01       Impact factor: 11.598

10.  Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Authors:  Christina F Chakarova; Matthew M Hims; Hanno Bolz; Leen Abu-Safieh; Reshma J Patel; Myrto G Papaioannou; Chris F Inglehearn; T Jeffrey Keen; Catherine Willis; Anthony T Moore; Thomas Rosenberg; Andrew R Webster; Alan C Bird; Andreas Gal; David Hunt; Eranga N Vithana; Shomi S Bhattacharya
Journal:  Hum Mol Genet       Date:  2002-01-01       Impact factor: 6.150
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  5 in total

1.  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

2.  Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.

Authors:  Linda Köhn; Sara J Bowne; Lori S Sullivan; Stephen P Daiger; Marie S I Burstedt; Konstantin Kadzhaev; Ola Sandgren; Irina Golovleva
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

3.  Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.

Authors:  Bing Dong; Jieqiong Chen; Xiaohui Zhang; Zhe Pan; Fengge Bai; Yang Li
Journal:  Mol Vis       Date:  2013-11-22       Impact factor: 2.367

Review 4.  Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Authors:  Gabrielle Wheway; Andrew Douglas; Diana Baralle; Elsa Guillot
Journal:  Exp Eye Res       Date:  2020-01-31       Impact factor: 3.467

5.  Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

Authors:  Lenka Ivings; Katherine V Towns; M A Matin; Charles Taylor; Frederique Ponchel; Richard J Grainger; Rajkumar S Ramesar; David A Mackey; Chris F Inglehearn
Journal:  Mol Vis       Date:  2008-12-18       Impact factor: 2.367
  5 in total

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