TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum-Reference-Cited by-同舟云学术

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Published:2011-01-23 Issue:3 Volume:43 Page:189-196
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Davis Erica E, ,Zhang Qi,Liu Qin,Diplas Bill H,Davey Lisa M,Hartley Jane,Stoetzel Corinne,Szymanska Katarzyna,Ramaswami Gokul,Logan Clare V,Muzny Donna M,Young Alice C,Wheeler David A,Cruz Pedro,Morgan Margaret,Lewis Lora R,Cherukuri Praveen,Maskeri Baishali,Hansen Nancy F,Mullikin James C,Blakesley Robert W,Bouffard Gerard G,Gyapay Gabor,Rieger Susanne,Tönshoff Burkhard,Kern Ilse,Soliman Neveen A,Neuhaus Thomas J,Swoboda Kathryn J,Kayserili Hulya,Gallagher Tomas E,Lewis Richard A,Bergmann Carsten,Otto Edgar A,Saunier Sophie,Scambler Peter J,Beales Philip L,Gleeson Joseph G,Maher Eamonn R,Attié-Bitach Tania,Dollfus Hélène,Johnson Colin A,Green Eric D,Gibbs Richard A,Hildebrandt Friedhelm,Pierce Eric A,Katsanis Nicholas

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.756.pdf

Reference31 articles.

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2. Zaghloul, N.A. & Katsanis, N. Functional modules, mutational load and human genetic disease. Trends Genet. 26, 168–176 (2010).

3. Hoefele, J. et al. Evidence of oligogenic inheritance in nephronophthisis. J. Am. Soc. Nephrol. 18, 2789–2795 (2007).

4. 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).

5. Otto, E.A. et al. Hypomorphic mutations in Meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J. Med. Genet. 46, 663–670 (2009).

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