Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis-Reference-Cited by-同舟云学术

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Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

Published:2020-10-26 Issue:12 Volume:130 Page:6379-6394
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Louis-Dit-Picard Hélène,Kouranti Ilektra,Rafael Chloé,Loisel-Ferreira Irmine^ORCID,Chavez-Canales Maria,Abdel-Khalek Waed,Argaiz Eduardo R.,Baron Stéphanie,Vacle Sarah,Migeon Tiffany,Coleman Richard,Do Cruzeiro Marcio,Hureaux Marguerite,Thurairajasingam Nirubiah,Decramer Stéphane,Girerd Xavier,O’Shaugnessy Kevin,Mulatero Paolo^ORCID,Roussey Gwenaëlle,Tack Ivan^ORCID,Unwin Robert,Vargas-Poussou Rosa^ORCID,Staub Olivier^ORCID,Grimm Richard,Welling Paul A.^ORCID,Gamba Gerardo^ORCID,Clauser Eric^ORCID,Hadchouel Juliette,Jeunemaitre Xavier^ORCID

Funder

ANR

EU - FP7

FONDATION DE RECHERCHE EN HYPERTENSION ARTERIELLE

PAPIIT DGAPA

INSTITUT DE RECHERCHE SERVIER

CONACYT - ANR

Swiss National Science Foundation

Fondation Leducq

INSERM

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/94171/files/pdf

Reference60 articles.

1. Human Hypertension Caused by Mutations in WNK Kinases

2. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

3. [KLHL3 and CULLIN-3: new genes involved in familial hypertension];Louis-Dit-Picard;Med Sci (Paris),2012

4. The CUL3–KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction

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