A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeab...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Parnell, Stephen C, Magenheimer, Brenda S, Maser, Robin L, Pavlov, Tengis S, Havens, Mallory A, Hastings, Michelle L, Jackson, Stephen F, Ward, Christopher J, Peterson, Kenneth R, Staruschenko, Alexander, Calvet, James P
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6140781/
https://ncbi.nlm.nih.gov/pubmed/29931260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy223
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