Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yannis Duffourd"'
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:
Yves Le Bouc, Virginie Carmignac, Laurence Faivre, Christel Thauvin-Robinet, Déborah Bourc'his, Paul Sagot, Cécile Choux, Irene Netchine, Patricia Fauque, Yannis Duffourd, Céline Bruno
Publikováno v:
Human molecular genetics. 24(12)
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which s