A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification-Reference-Cited by-同舟云学术

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification

Published:2018-06-04 Issue:8 Volume:39 Page:1139-1149
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bignon Yohan¹,Alekov Alexi²,Frachon Nadia¹,Lahuna Olivier³,Jean-Baptiste Doh-Egueli Carine⁴,Deschênes Georges⁵⁶,Vargas-Poussou Rosa⁷⁸,Lourdel Stéphane¹^ORCID

Affiliation:

1. Sorbonne Université, Université Paris-Descartes; INSERM; CNRS Paris France

2. Institut für Neurophysiologie; Medizinische Hochschule Hannover; Hannover Germany

3. INSERM; Institut Cochin; Paris France

4. CHU de Pointe-à-Pitre; Service de pédiatrie générale; Pointe-à-Pitre France

5. Assistance Publique-Hôpitaux de Paris; Hôpital Robert Debré, Service de Néphrologie Pédiatrique; Paris France

6. Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA); Paris France

7. Assistance Publique-Hôpitaux de Paris; Hôpital Européen Georges Pompidou, Département de génétique; Paris France

8. Université Paris-Descartes; Faculté de Médecine; Paris France

Funder

Fondation du Rein

French Ministère de l'Enseignement Supérieur et de la Recherche

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference54 articles.

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2. Mutations associated with Dent's disease affect gating and voltage dependence of the human anion/proton exchanger ClC-5;Alekov;Frontiers in Physiology,2015

3. Channel-like slippage modes in the human anion/proton exchanger ClC-4;Alekov;The Journal of General Physiology,2009

4. Twenty years of fluorescence imaging of intracellular chloride;Arosio;Frontiers in Cellular Neuroscience,2014

5. Modulation of calcium entry by the endo-lysosomal system;Brailoiu;Advances in Experimental Medicine and Biology,2016

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