Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Christel Thauvin-Robinet"'
Autor:
Adelaide Rega, Y. T. Hu, Daniel Helbling, Sebastien Moutton, Anna C.E. Hurst, Qing Kenneth Wang, Grazia M.S. Mancini, Samantha A. Schrier Vergano, Chengqi Xu, Lina Liang, Xia Li, Bertrand Isidor, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Christina Hung, Benjamin Cogné, Olaf Bodamer, Julien Thevenon, Leon S. Dure, David P. Bick, Yannis Duffourd, Bénédicte Gérard, Stéphane Bézieau, Antonio Vitobello, Qiuyun Chen, Anne de Saint-Martin, Daphné Lehalle
Publikováno v:
Human Molecular Genetics, 28(17), 2937-2951. Oxford University Press
Hum Mol Genet
Hum Mol Genet
KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy and paroxysmal dyskinesia.
Autor:
Virginie Carmignac, David Vandroux, Nathalie Droin, Patrick Callier, Guillaume Meurice, Laurence Faivre, Noémie Pata-Merci, Romaric Loffroy, Christel Thauvin-Robinet, Ange-Line Bruel, Romain Da Costa, Julien Thevenon, Olivier Bouchot, Laurence Duplomb, Eric Solary
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
IF 5.340; International audience; The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die p