Genetic Analyses in Dent Disease and Characterization of <i>CLCN5</i> Mutations in Kidney Biopsies

Genetic Analyses in Dent Disease and Characterization of <i>CLCN5</i> Mutations in Kidney Biopsies

Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in <i>CLCN5</i> (DD1) and <i>OCRL</i> genes. <i>CLCN5</i> encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocytosis...

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Bibliographic Details
Main Authors: Lisa Gianesello, Monica Ceol, Loris Bertoldi, Liliana Terrin, Giovanna Priante, Luisa Murer, Licia Peruzzi, Mario Giordano, Fabio Paglialonga, Vincenzo Cantaluppi, Claudio Musetti, Giorgio Valle, Dorella Del Prete, Franca Anglani, Dent Disease Italian Network
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:International Journal of Molecular Sciences
Subjects:
dent disease
<i>clcn5</i> gene mutations
proximal tubular clc-5 expression
megalin
cubilin
kidney biopsies
immunohistochemistry
whole exome sequencing
Online Access:https://www.mdpi.com/1422-0067/21/2/516

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https://www.mdpi.com/1422-0067/21/2/516

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