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Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.
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.
  • Louis-Dit-Picard H; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Kouranti I; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Rafael C; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Loisel-Ferreira I; INSERM UMR_S1155, Tenon Hospital, Paris, France.
  • Chavez-Canales M; Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
  • Abdel-Khalek W; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Argaiz ER; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Baron S; Translational Medicine Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México and Instituto Nacional de Cardiología Ignacio Chávez, Tlalpan, Mexico City, Mexico.
  • Vacle S; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Migeon T; Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, Mexico City, Mexico.
  • Coleman R; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Do Cruzeiro M; Service d'Explorations Fonctionnelles, Assistance Publique-Hôpitaux de Paris (AP-HP), F-75015, Paris, France.
  • Hureaux M; Department of Pharmacology and Toxicology, University of Lausanne, Lausanne, Switzerland.
  • Thurairajasingam N; INSERM UMR_S1155, Tenon Hospital, Paris, France.
  • Decramer S; Department of Physiology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
  • Girerd X; NSERM U1016, Institut Cochin, Paris, France.
  • O'Shaugnessy K; Université de Paris, INSERM, PARCC, F-75006, Paris, France.
  • Mulatero P; AP-HP, Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.
  • Roussey G; AP-HP, Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.
  • Tack I; Service de Néphrologie Pédiatrique, Hôpital des Enfants, Toulouse, France.
  • Unwin R; AP-HP, Institute of Cardiometabolism and Nutrition (ICAN), Unité de Prévention Cardiovasculaire, Hôpital de La Pitié-Salpêtrière, Paris, France.
  • Vargas-Poussou R; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
  • Staub O; Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Torino, Italy.
  • Grimm R; Néphrologie Pédiatrique-Clinique Médicale Pédiatrique, Hôpital Mère Enfant, CHU de Nantes, Nantes, France.
  • Welling PA; Service des Explorations Fonctionnelles Physiologiques, CHU de Toulouse et INSERM U1048-I2MC, Toulouse, France.
  • Gamba G; UCL Department of Renal Medicine, University College London, Royal Free Campus and Hospital, London, United Kingdom.
  • Clauser E; AP-HP, Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.
  • Hadchouel J; Department of Pharmacology and Toxicology, University of Lausanne, Lausanne, Switzerland.
  • Jeunemaitre X; Departments of Medicine, Nephrology, and Physiology, Johns Hopkins University Medical School, Baltimore, Maryland, USA.
J Clin Invest ; 130(12): 6379-6394, 2020 12 01.
Article en En | MEDLINE | ID: mdl-32790646
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis / Seudohipoaldosteronismo / Proteína Quinasa Deficiente en Lisina WNK 1 / Túbulos Renales Distales / Mutación Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis / Seudohipoaldosteronismo / Proteína Quinasa Deficiente en Lisina WNK 1 / Túbulos Renales Distales / Mutación Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Año: 2020 Tipo del documento: Article