KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
- Author
- LOUIS-DIT-PICARD, Hélène1 2 3 ; BARC, Julien4 5 6 ; VIDAL-PETIOT, Emmanuelle1 2 ; SOUKASEUM, Christelle1 2 ; MANDET, Chantal1 2 ; BROUX, Françoise12 ; CHABRE, Olivier13 ; DELAHOUSSE, Michel14 ; ESNAULT, Vincent15 16 ; FIQUET, Béatrice17 ; HOUILLIER, Pascal18 19 2 ; ISNARD BAGNIS, Corinne20 ; TRUJILLANO, Daniel7 8 ; KOENIG, Jens21 ; KONRAD, Martin21 ; LANDAIS, Paul2 22 23 ; MOURANI, Chebel24 ; NIAUDET, Patrick2 22 ; PROBST, Vincent25 4 5 6 ; THAUVIN, Christel; UNWIN, Robert J; SOROKA, Steven D; EHRET, Georg; MISEREY-LENKEI, Stéphanie9 ; OSSOWSKI, Stephan; CAULFIELD, Mark; BRUNEVAL, Patrick1 2 ; ESTIVILL, Xavier7 8 ; FROGUEL, Philippe10 11 ; HADCHOUEL, Juliette1 2 ; SCHOTT, Jean-Jacques25 4 5 6 7 ; JEUNEMAITRE, Xavier1 2 3 ; BOUATIA-NAJI, Nabila1 2 ; PYLYPENKO, Olena9 ; BEAURAIN, Geneviève1 2 3 ; BONNEFOND, Amélie10 11 ; SAND, Olivier10 11 ; SIMIAN, Christophe3
[1] Institut National de la Sante et de la Recherche Médicale (INSERM), Unite Mixte de Recherche Scientifique (UMRS) 970, Paris-Centre de Recherche Cardiovasculaire (PARCC), Paris, France
[2] Faculty of Medicine, Universite Paris Descartes, Pôle de Recherche et d'Enseignement Superieur (PRES) Sorbonne Paris Cite, Paris, France
[3] Département de Genetique, Assistance Publique―Hôpitaux de Paris (AP-HP), Hôpital Europeen Georges Pompidou (HEGP), Paris, France
[4] INSERM, Unite Mixte de Recherche (UMR) 1087, Institut du Thorax, Universite de Nantes, Nantes, France
[5] Faculty of Medicine, Universite de Nantes, Nantes, France
[6] Centre National de la Recherche Scientifique (CNRS), Equipe de Recherche Labellisée (ERL) 3147, Nantes, France
[7] Genes and Disease Program, Center for Genomic Regulation (CGR), Pompeu Fabra University, Barcelona, Spain
[8] Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Spain
[9] CNRS, UMR 144, Institut Curie, Paris, France
[10] CNRS, UMR 8199, Lille Pasteur Institute, Lille, France
[11] Faculty of Medicine, Lille Nord de France University, Lille, France
[12] Département de Pediatrie Médicale, Centre Hospitalier Universitaire (CHU) Charles Nicolle, Universite de Rouen, Rouen, France
[13] CHU de Grenoble, Universite Joseph Fourier, Grenoble, France
[14] Département de Nephrologie, Hopital Foch, Suresnes, France
[15] Service de Néphrologie, CHU de Nice, Hôpital Pasteur, Nice, France
[16] Faculty of Medicine, Universite de Nice Sophia Antipolis, Nice, France
[17] Service d'Hypertension et Medecine Vasculaire, AP-HP, HEGP, Paris, France
[18] Service d'Explorations Fonctionnelles Rénales, AP-HP, HEGP, Paris, France
[19] INSERM, UMR S872―Institut des Cordeliers, Paris, France
[20] Nephrology Department, AP-HP, Hôpital Pitié-Salpétrière, Paris, France
[21] Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany
[22] Services de Néphrologie et Néphrologie Pediatrique, AP-HP, Hôpital Necker, Paris, France
[23] INSERM, U507, Hôpital Necker, Paris, France
[24] Departement de Pediatrie, Hotel Dieu de France, Beirut, Lebanon
[25] Service de Cardiologie Nantes, CHU de Nantes, Institut du Thorax, Nantes, France - Source
Nature genetics. 2012, Vol 44, Num 4, pp 456-460, 5 p ; ref : 22 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Hypertension artérielle Mutation Transport ion Pathologie de l'appareil circulatoire
- Keyword (en)
- Hypertension Mutation Ion transport Cardiovascular disease
- Keyword (es)
- Hipertensión arterial Mutación Transporte iónica Aparato circulatorio patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system / 002B12B Blood and lymphatic vessels / 002B12B05 Arterial hypertension. Arterial hypotension
- Discipline
- Cardiology. Circulatory system Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25767248
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng.2218 
https://dx.doi.org/10.1038/ng.2218
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arXiv access
