Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)-Reference-Cited by-同舟云学术

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Published:2010-02-18 Issue:9 Volume:25 Page:2970-2976
ISSN:1460-2385
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:

Author:

Schoeb Dominik S.¹²,Chernin Gil¹,Heeringa Saskia F.¹,Matejas Verena²,Held Susanne¹,Vega-Warner Virginia¹,Bockenhauer Detlef³,Vlangos Christopher N.¹,Moorani Khemchand N.⁴,Neuhaus Thomas J.⁵,Kari Jameela A.⁶,MacDonald James¹,Saisawat Pawaree¹,Ashraf Shazia¹,Ovunc Bugsu¹,Zenker Martin²,Hildebrandt Friedhelm¹⁷,

Affiliation:

1. Department of Pediatrics and Department of Human Genetics, University of Michigan, 1150 W. Medical Center Drive Drive, Ann Arbor, MI, USA

2. Institute of Human Genetics, University of Erlangen–Nuremberg, Schwabachanlage 10, Erlangen, Germany

3. Paediatric Nephrology, Great Ormond Street Hospital, Great Ormond Street, London, WC1 3JH, UK

4. Department of Pediatric Medicine, National Institute of Child Health, Rafiqi H J Road, Karachi, Pakistan

5. Nephrology Unit, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland

6. Department of Pediatrics, King Abdul-Aziz University Hospital, Ali Al-Murtada Road, Jeddah, Saudi Arabia

7. Howard Hughes Medical Institute, Chevy Chase, Maryland

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ndt/article-pdf/25/9/2970/17107749/gfq088.pdf

Reference25 articles.

1. Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome;Kestila;Mol Cell,1998

2. Nephrin is specifically located at the slit diaphragm of glomerular podocytes;Ruotsalainen;Proc Natl Acad Sci U S A,1999

3. Nephrin promotes cell–cell adhesion through homophilic interactions;Khoshnoodi;Am J Pathol,2003

4. Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes;Jones;Nature,2006

5. beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity;Quack;Proc Natl Acad Sci U S A,2006

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