AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis-Reference-Cited by-同舟云学术

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Published:2010-01-17 Issue:2 Volume:42 Page:175-180
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Louie Carrie M,Caridi Gianluca,Lopes Vanda S,Brancati Francesco,Kispert Andreas,Lancaster Madeline A,Schlossman Andrew M,Otto Edgar A,Leitges Michael,Gröne Hermann-Josef,Lopez Irma,Gudiseva Harini V,O'Toole John F,Vallespin Elena,Ayyagari Radha,Ayuso Carmen,Cremers Frans P M,den Hollander Anneke I,Koenekoop Robert K,Dallapiccola Bruno,Ghiggeri Gian Marco,Hildebrandt Friedhelm,Valente Enza Maria,Williams David S,Gleeson Joseph G

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.519.pdf

Reference46 articles.

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2. Parisi, M.A. et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J. Med. Genet. 43, 334–339 (2006).

3. Quinlan, R.J., Tobin, J.L. & Beales, P.L. Modeling ciliopathies: primary cilia in development and disease. Curr. Top. Dev. Biol. 84, 249–310 (2008).

4. Dixon-Salazar, T. et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am. J. Hum. Genet. 75, 979–987 (2004).

5. Ferland, R.J. et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 36, 1008–1013 (2004).

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