ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3-Reference-Cited by-同舟云学术

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Published:2013-06-23 Issue:8 Volume:45 Page:951-956
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hoff Sylvia,Halbritter Jan,Epting Daniel,Frank Valeska,Nguyen Thanh-Minh T,van Reeuwijk Jeroen,Boehlke Christopher,Schell Christoph,Yasunaga Takayuki,Helmstädter Martin,Mergen Miriam,Filhol Emilie,Boldt Karsten,Horn Nicola,Ueffing Marius,Otto Edgar A,Eisenberger Tobias,Elting Mariet W,van Wijk Joanna A E,Bockenhauer Detlef,Sebire Neil J,Rittig Søren,Vyberg Mogens,Ring Troels,Pohl Martin,Pape Lars,Neuhaus Thomas J,Elshakhs Neveen A Soliman,Koon Sarah J,Harris Peter C,Grahammer Florian,Huber Tobias B,Kuehn E Wolfgang,Kramer-Zucker Albrecht,Bolz Hanno J,Roepman Ronald,Saunier Sophie,Walz Gerd,Hildebrandt Friedhelm,Bergmann Carsten,Lienkamp Soeren S

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2681.pdf

Reference31 articles.

1. Hildebrandt, F. & Zhou, W. Nephronophthisis-associated ciliopathies. J. Am. Soc. Nephrol. 18, 1855–1871 (2007).

2. Benzing, T. & Schermer, B. Clinical spectrum and pathogenesis of nephronophthisis. Curr. Opin. Nephrol. Hypertens. 21, 272–278 (2012).

3. Hildebrandt, F., Benzing, T. & Katsanis, N. Ciliopathies. N. Engl. J. Med. 364, 1533–1543 (2011).

4. Halbritter, J. et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum. Genet. published online; doi: 10.1007/s00439-013-1297-0 (5 April 2013).10.1007/s00439-013-1297-0

5. Sang, L. et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145, 513–528 (2011).

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