Article
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 - 19 Mar 2013
Coste Bertrand, Houge Gunnar, Murray Michael F, Stitziel Nathan, Bandell Michael, Giovanni Monica A, Philippakis Anthony, Hoischen Alexander, Riemer Gunnar, Steen Unni, Steen Vidar Martin, Mathur Jayanti, Cox James, Lebo Matthew, Rehm Heidi, Weiss Scott T, Wood John N, Maas Richard L, Sunyaev Shamil R, Patapoutian Ardem
Abstract excerpt
Mechanotransduction, the pathway by which mechanical forces are translated to biological signals, plays important but poorly characterized roles in physiology. PIEZOs are recently identified, widely expressed, mechanically activated ion channels that are hypothesized to play a role in mechanotransduction in mammals. Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.