Literature DB >> 12015282

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Carlo Rivolta1, Dror Sharon, Margaret M DeAngelis, Thaddeus P Dryja.   

Abstract

Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.

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Year:  2002        PMID: 12015282     DOI: 10.1093/hmg/11.10.1219

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  113 in total

1.  Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats.

Authors:  Wen-Tao Deng; Astra Dinculescu; Qiuhong Li; Sanford L Boye; Jie Li; Marina S Gorbatyuk; Jijing Pang; Vince A Chiodo; Michael T Matthes; Douglas Yasumura; Li Liu; Fowzan S Alkuraya; Kang Zhang; Douglas Vollrath; Matthew M LaVail; William W Hauswirth
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-04-06       Impact factor: 4.799

2.  Mapping a diversity of genetic interactions in yeast.

Authors:  Jolanda van Leeuwen; Charles Boone; Brenda J Andrews
Journal:  Curr Opin Syst Biol       Date:  2017-08-12

Review 3.  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

Review 4.  [Genetics of retinal dystrophies--an overview].

Authors:  H Bolz
Journal:  Ophthalmologe       Date:  2005-07       Impact factor: 1.059

Review 5.  Studying rod photoreceptor development in zebrafish.

Authors:  A C Morris; J M Fadool
Journal:  Physiol Behav       Date:  2005-09-29

Review 6.  Chemistry of the retinoid (visual) cycle.

Authors:  Philip D Kiser; Marcin Golczak; Krzysztof Palczewski
Journal:  Chem Rev       Date:  2013-07-11       Impact factor: 60.622

7.  Cone survival despite rod degeneration in XOPS-mCFP transgenic zebrafish.

Authors:  Ann C Morris; Eric H Schroeter; Joseph Bilotta; Rachel O L Wong; James M Fadool
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-12       Impact factor: 4.799

8.  Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Authors:  Koji M Nishiguchi; Richard G Tearle; Yangfan P Liu; Edwin C Oh; Noriko Miyake; Paola Benaglio; Shyana Harper; Hanna Koskiniemi-Kuendig; Giulia Venturini; Dror Sharon; Robert K Koenekoop; Makoto Nakamura; Mineo Kondo; Shinji Ueno; Tetsuhiro R Yasuma; Jacques S Beckmann; Shiro Ikegawa; Naomichi Matsumoto; Hiroko Terasaki; Eliot L Berson; Nicholas Katsanis; Carlo Rivolta
Journal:  Proc Natl Acad Sci U S A       Date:  2013-09-16       Impact factor: 11.205

Review 9.  Photoreceptor cell death mechanisms in inherited retinal degeneration.

Authors:  Javier Sancho-Pelluz; Blanca Arango-Gonzalez; Stefan Kustermann; Francisco Javier Romero; Theo van Veen; Eberhart Zrenner; Per Ekström; François Paquet-Durand
Journal:  Mol Neurobiol       Date:  2008-11-04       Impact factor: 5.590

10.  Nok plays an essential role in maintaining the integrity of the outer nuclear layer in the zebrafish retina.

Authors:  Xiangyun Wei; Jian Zou; Masaki Takechi; Shoji Kawamura; Lihua Li
Journal:  Exp Eye Res       Date:  2006-03-10       Impact factor: 3.467

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