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

Gain-of-function mutations in with no lysine (K) 1 (WNK1) and WNK4 genes are responsible for familial hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by arterial hypertension and hyperkalemia with metabolic acidosis. More recently, FHHt-causing mutations in the Kelch-like...

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Publicado en:J Clin Invest
Autores principales: Louis-Dit-Picard, Hélène, Kouranti, Ilektra, Rafael, Chloé, Loisel-Ferreira, Irmine, 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, Roussey, Gwenaëlle, Tack, Ivan, Unwin, Robert, Vargas-Poussou, Rosa, Staub, Olivier, Grimm, Richard, Welling, Paul A., Gamba, Gerardo, Clauser, Eric, Hadchouel, Juliette, Jeunemaitre, Xavier
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2020
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7685730/
https://ncbi.nlm.nih.gov/pubmed/32790646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI94171
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