Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Autor: Patrick Niaudet, François Nobili, Guylhène Bourdat-Michel, Estelle Colin, Karin Dahan, Brigitte Gilbert-Dussardier, Claire Rigothier, Robert Novo, Dominique Martin-Coignard, Justine Bacchetta, Karim Bouchireb, Rémi Salomon, Thierry Hannedouche, Ariela Vergara-Jaque, Chantal Loirat, Dominique Chauveau, Pascal Houillier, Stéphane Burtey, Nicole Van Regemorter, Lamisse Mansour-Hendili, Sandrine Lemoine, Xavier Jeunemaitre, Muriel Holder-Espinasse, Michel Fischbach, Denis Morin, François-Guillaume Debray, S. Benoit, Valérie Leroy, Gilles Morin, Marie Alice Macher, Andreas Schleich, Mathilde Cailliez, Hassan Izzedine, Isabelle Roncelin, Gwenaëlle Roussey-Kesler, Cyrielle Treard, Claire Cartery, Hubert Nivet, Stéphane Lourdel, Véronique Baudouin, Pierre Cochat, Bertrand Knebelmann, Anne Blanchard, Wendy González, Estelle Desport, Tim Ulinski, Stella Dieguez, Marco Janner, Rosa Vargas-Poussou, Laurence Faivre, Alexandre Karras, Nelly Le Pottier, Francesco Emma, Philippe Vanhille, Renaud de la Faille, Anne Laure Sellier-Leclerc, J. Fourcade, Olivier Devuyst, Denis Fouque, Kenza Soulami, Aurélien Tiple, Etienne Bérard, Laurenne Dehoux, Marie Pierre Lavocat, Hélène François, Gérard Champion, Gerard Cardon, Georges Deschênes

Publikováno v: Human Mutation
Human Mutation, Wiley, 2015, 36 (8), pp.743-752. ⟨10.1002/humu.22804⟩
Human Mutation, 2015, 36 (8), pp.743-752. ⟨10.1002/humu.22804⟩
Human Mutation, Wiley, 2015, 36 (8), pp.743-52. ⟨10.1002/humu.22804⟩
Hum Mutat

International audience; Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0ec55878921ab3a3c860d7fddbbf63
https://hal.sorbonne-universite.fr/hal-02453168/document

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene

Autor: Pierre Cochat, Gwenaelle Roussey Kesler, François Nobili, Laurence Strompf, Philippe Eckart, Mathilde Cailliez, Marie-Alice Macher, Robert Novo, Gilles Morin, Valérie Layet, Anne Fargeot, Anne Blanchard, Nathalie Godefroid, Michèle Dechaux, Rémi Salomon, Stéphanie Lorotte, Ivan Tack, Véronique Baudouin, Pascal Houillier, Tim Ulinski, Rosa Vargas-Poussou, Hubert Nivet, Chantal Loirat, Xavier Jeunemaitre, François Bouissou, Nelly Le Pottier

Publikováno v: Journal of the American Society of Nephrology : JASN. 17(5)

Mutations in the ATP6V1B1 and ATP6V0A4 genes, encoding subunits B1 and 4 of apical H(+) ATPase, cause recessive forms of distal renal tubular acidosis (dRTA). ATP6V1B mutations have been associated with early sensorineural hearing loss (SNHL), wherea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c72446a82a305160779577f2a0da8f
https://pubmed.ncbi.nlm.nih.gov/16611712