Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression-Reference-Cited by-同舟云学术

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

Published:2010-02-18 Issue:10 Volume:19 Page:1985-1997
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Zaucke Frank,Boehnlein Joana M.,Steffens Sarah,Polishchuk Roman S.,Rampoldi Luca,Fischer Andreas,Pasch Andreas,Boehm Christoph W. A.,Baasner Anne,Attanasio Massimo,Hoppe Bernd,Hopfer Helmut,Beck Bodo B.,Sayer John A.,Hildebrandt Friedhelm,Wolf Matthias T. F.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/19/10/1985/17249319/ddq077.pdf

Reference62 articles.

1. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy;Hart;J. Med. Genet.,2002

2. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of Uromodulin;Dahan;J. Am. Soc. Nephrol.,2003

3. Allelism of MCKD, FJHN, and GCKD caused by impairment of uromodulin export dynamics;Rampoldi;Hum. Mol. Genet.,2003

4. The nephronophthisis complex. A clinicopathologic study in children;Waldherr;Virchows. Arch. A. Pathol. Anat. Histol.,1982

5. Molecular genetics of nephronophthisis and medullary cystic kidney disease;Hildebrandt;J. Am. Soc. Nephrol.,2000

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