Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Bertrand Coste (1) , G. Houge , M. Murray , N. Stitziel , M. Bandell , M. Giovanni , A. Philippakis , A. Hoischen , G. Riemer , U. Steen , V. Steen , J. Mathur , J. Cox , M. Lebo , H. Rehm , S. Weiss , J. Wood , R. Maas , S. Sunyaev , A. Patapoutian

1 LNC - Laboratoire de Neurosciences Cognitives [Marseille]

Domaines: Sciences du Vivant [q-bio]

Bertrand Coste, G. Houge, M. Murray, N. Stitziel, M. Bandell, et al.. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proceedings of the National Academy of Sciences of the United States of America, 2013, 110 (12), pp.4667-4672. ⟨10.1073/pnas.1221400110⟩. ⟨hal-03464424⟩