A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies-Reference-Cited by-同舟云学术

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Published:2009-05-10 Issue:6 Volume:41 Page:739-745
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Khanna Hemant,Davis Erica E,Murga-Zamalloa Carlos A,Estrada-Cuzcano Alejandro,Lopez Irma,den Hollander Anneke I,Zonneveld Marijke N,Othman Mohammad I,Waseem Naushin,Chakarova Christina F,Maubaret Cecilia,Diaz-Font Anna,MacDonald Ian,Muzny Donna M,Wheeler David A,Morgan Margaret,Lewis Lora R,Logan Clare V,Tan Perciliz L,Beer Michael A,Inglehearn Chris F,Lewis Richard A,Jacobson Samuel G,Bergmann Carsten,Beales Philip L,Attié-Bitach Tania,Johnson Colin A,Otto Edgar A,Bhattacharya Shomi S,Hildebrandt Friedhelm,Gibbs Richard A,Koenekoop Robert K,Swaroop Anand,Katsanis Nicholas

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.366.pdf

Reference30 articles.

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2. Bergmann, C. et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am. J. Hum. Genet. 82, 959–970 (2008).

3. Olbrich, H. et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat. Genet. 34, 455–459 (2003).

4. Chang, B. et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet. 15, 1847–1857 (2006).

5. den Hollander, A.I. et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79, 556–561 (2006).

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