COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness-Reference-Cited by-同舟云学术

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Published:2011-05-02 Issue:5 Volume:121 Page:2013-2024
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Heeringa Saskia F.,Chernin Gil,Chaki Moumita,Zhou Weibin,Sloan Alexis J.,Ji Ziming,Xie Letian X.,Salviati Leonardo,Hurd Toby W.,Vega-Warner Virginia,Killen Paul D.,Raphael Yehoash,Ashraf Shazia,Ovunc Bugsu,Schoeb Dominik S.,McLaughlin Heather M.,Airik Rannar,Vlangos Christopher N.,Gbadegesin Rasheed,Hinkes Bernward,Saisawat Pawaree,Trevisson Eva,Doimo Mara,Casarin Alberto,Pertegato Vanessa,Giorgi Gianpietro,Prokisch Holger,Rötig Agnès,Nürnberg Gudrun,Becker Christian,Wang Su,Ozaltin Fatih,Topaloglu Rezan,Bakkaloglu Aysin,Bakkaloglu Sevcan A.,Müller Dominik,Beissert Antje,Mir Sevgi,Berdeli Afig,ϖzen Seza,Zenker Martin,Matejas Verena,Santos-Ocaña Carlos,Navas Placido,Kusakabe Takehiro,Kispert Andreas,Akman Sema,Soliman Neveen A.,Krick Stefanie,Mundel Peter,Reiser Jochen,Nürnberg Peter,Clarke Catherine F.,Wiggins Roger C.,Faul Christian,Hildebrandt Friedhelm

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference63 articles.

1. Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome

2. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

3. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

4. Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

5. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

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