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

Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. Symptoms include renal salt wasting, hyperuricemia, gou...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2860893/
https://ncbi.nlm.nih.gov/pubmed/20172860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq077
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados