Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24315
Abstract: 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),… read more here.
Keywords: functionally deficient; trpv6 variants; deficient trpv6; trpv6 ... See more keywords
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Gastroenterology and Nutrition"
DOI: 10.1097/mpg.0000000000003700
Abstract: Objectives: Recently, a genetic risk for chronic pancreatitis (CP) was found to be conferred by pathogenic variants in the transient receptor potential cation channel, subfamily V, member 6 (TRPV6). Interestingly, 20%–57% of patients with functionally… read more here.
Keywords: pancreatitis associated; variants pancreatitis; trpv6 variants; coexistence ... See more keywords