Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Author:

Otto Edgar A,Loeys Bart,Khanna Hemant,Hellemans Jan,Sudbrak Ralf,Fan Shuling,Muerb Ulla,O'Toole John F,Helou Juliana,Attanasio Massimo,Utsch Boris,Sayer John A,Lillo Concepcion,Jimeno David,Coucke Paul,Paepe Anne De,Reinhardt Richard,Klages Sven,Tsuda Motoyuki,Kawakami Isao,Kusakabe Takehiro,Omran Heymut,Imm Anita,Tippens Melissa,Raymond Pamela A,Hill Jo,Beales Phil,He Shirley,Kispert Andreas,Margolis Benjamin,Williams David S,Swaroop Anand,Hildebrandt Friedhelm

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference25 articles.

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2. Fanconi, G., Hanhart, E. & Albertini, A. Die familiäre juvenile Nephronophthise. Hel. Pediatr. Acta 6, 1–49 (1951).

3. Hildebrandt, F. Nephronophthisis—medullary cystic kidney disease. in Pediatric Nephrology (eds. Avner, E.D. & Niaudet, P.) 665–673 (Lippincott, Williams & Wilkins, Philadelphia, 2004).

4. Hildebrandt, F. et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat. Genet. 17, 149–153 (1997).

5. Saunier, S. et al. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum. Mol. Genet. 6, 2317–2323 (1997).

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