Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible-Reference-Cited by-同舟云学术

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

Published:2006-11-05 Issue:12 Volume:38 Page:1397-1405
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hinkes Bernward,Wiggins Roger C,Gbadegesin Rasheed,Vlangos Christopher N,Seelow Dominik,Nürnberg Gudrun,Garg Puneet,Verma Rakesh,Chaib Hassan,Hoskins Bethan E,Ashraf Shazia,Becker Christian,Hennies Hans Christian,Goyal Meera,Wharram Bryan L,Schachter Asher D,Mudumana Sudha,Drummond Iain,Kerjaschki Dontscho,Waldherr Rüdiger,Dietrich Alexander,Ozaltin Fatih,Bakkaloglu Aysin,Cleper Roxana,Basel-Vanagaite Lina,Pohl Martin,Griebel Martin,Tsygin Alexey N,Soylu Alper,Müller Dominik,Sorli Caroline S,Bunney Tom D,Katan Matilda,Liu Jinhong,Attanasio Massimo,O'Toole John F,Hasselbacher Katrin,Mucha Bettina,Otto Edgar A,Airik Rannar,Kispert Andreas,Kelley Grant G,Smrcka Alan V,Gudermann Thomas,Holzman Lawrence B,Nürnberg Peter,Hildebrandt Friedhelm

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1918.pdf

Reference41 articles.

1. Kestila, M. et al. Positionally cloned gene for a novel glomerular protein–nephrin–is mutated in congenital nephrotic syndrome. Mol. Cell 1, 575–582 (1998).

2. Boute, N. et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24, 349–354 (2000).

3. Hasselbacher, K. et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 70, 1008–1012 (2006).

4. Mucha, B. et al. Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr. Res. 59, 325–331 (2006).

5. Kaplan, J.M. et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24, 251–256 (2000).

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