mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

Autor: Anukrati Nigam, Deborah P. Jones, Martin Konrad, Claudia Dafinger, Karin Klingel, Stéphane Burtey, Francisco J. Arjona, David M. Sabatini, Carsten Bergmann, Eric Schulze-Bahr, Caro Bos, Pascal Houillier, Rosa Vargas-Poussou, Mehmet Eltan, Holger Thiele, Alina Braun, Tulay Guran, Nine V A M Knoers, Jeroen H. F. de Baaij, Janine Altmüller, Max C. Liebau, Karin Dahan, Nathalie Godefroid, Jun Oh, François Jouret, Holger Rehmann, Felix Kleinerüschkamp, Maria Ibars Serra, Bodo B. Beck, Bernhard Schermer, Karl P. Schlingmann, Kirsten Y. Renkema, Fried J. T. Zwartkruis, Kuang Shen, Jens König, Marie-Christine Parotte

Publikováno v: Journal of the American Society of Nephrology, 32(11). AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, Vol. 32, no.11, p. 2885-2899 (2021)
Journal of the American Society of Nephrology, 32, 11, pp. 2885-2899
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 2885-2899

Contains fulltext : 244896.pdf (Publisher’s version ) (Closed access) BACKGROUND: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Neverthele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8850e8d2efcd78ef50a2a9c7c2c8c5de
https://doi.org/10.1681/asn.2021030333