Article
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
Human mutation - 1 Feb 2022
Hamada Shin, Masson Emmanuelle, Chen Jian-Min, Sakaguchi Reiko, Rebours Vinciane, Buscail Louis, Matsumoto Ryotaro, Tanaka Yu, Kikuta Kazuhiro, Kataoka Fumiya, Sasaki Akira, Le Rhun Marc, Audin Hela, Lachaux Alain, Caumont Bernard, Lorenzo Diane, Billiemaz Kareen, Besnard Raphael, Koch Stéphane, Lamireau Thierry, De Koninck Xavier, Génin Emmanuelle, Cooper David N, Mori Yasuo, Masamune Atsushi, Férec Claude
Abstract excerpt
The recent discovery of TRPV6 as a pancreatitis susceptibility gene served to identify a novel mechanism of chronic pancreatitis (CP) due to Ca2+ dysregulation. Herein, we analyzed TRPV6 in 81 probands with hereditary CP (HCP), 204 probands with familial CP (FCP), and 462 patients with idiopathic CP (ICP) by targeted next-generation sequencing. We identified 25 rare nonsynonymous TRPV6 variants, 18 of which had...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.