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Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain

Genetic variants in PKD2 which encodes for the polycystin-2 ion channel are responsible for many clinical cases of autosomal dominant polycystic kidney disease (ADPKD). Despite our strong understanding of the genetic basis of ADPKD, we do not know how most variants impact channel function. Polycysti...

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Detalles Bibliográficos
Publicado en:Proc Natl Acad Sci U S A
Autores principales: Vien, Thuy N., Wang, Jinliang, Ng, Leo C. T., Cao, Erhu, DeCaen, Paul G.
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229662/
https://ncbi.nlm.nih.gov/pubmed/32332171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1920777117
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