Introduction: Hereditary pancreatitis (HP) is a rare debilitating disease with incompletely understood etio-pathophysiology. The reduced penetrance of genes such as PRSS1 associated with hereditary pancreatitis indicates a role for novel inherited factors.Methods: We performed whole-exome sequencing of three affected members of an Indian family (Father, Son, and Daughter) with chronic pancreatitis and compared variants with those seen in the unaffected mother.Results: We identified a novel frameshift mutation in exon 11 of TRPV6 (c.1474_1475delGT; p.V492Tfs*136), a calcium channel, in the patients. Functional characterization of this mutant TRPV6 following heterologous expression revealed that it was defective in calcium uptake. Induction o...
Background: Pancreatitis has a proven genetic basis in a minority of patients. Methods: Review of th...
Submitted to Digestive Disease Week 2020 and American College of Gastroenterology's 2021 Annual Scie...
International audiencePURPOSE: Hereditary pancreatitis (HP) is the primary etiology of chronic pancr...
The recent discovery of TRPV6 as a pancreatitis susceptibility gene served to identify a novel mecha...
Accessible online at: www.karger.com/journals/dig Key Words Pancreas W Chronic pancreatic disease W ...
Contains fulltext : 83242.pdf (publisher's version ) (Open Access)Chronic pancreat...
Hereditary pancreatitis (HP) is a rare heterogeneous disease with partial penetrance identified by f...
Contains fulltext : 81078.pdf (publisher's version ) (Closed access)BACKGROUND: Tr...
Identification of mutations that lead to pancreatitis and its complications has revolutionized our u...
Contains fulltext : 229360.pdf (Publisher’s version ) (Closed access)BACKGROUND: T...
an autosomal-dominant disease, with a variable expression and an estimated penetrance of 80%. The ge...
Pancreatitis is a complex acute and chronic inflammatory disease of the pancreas. Patients with chro...
Objective In chronic pancreatitis (CP), alterations in several genes have so far been described, but...
Patients with pancreatic agenesis are born without a pancreas, causing permanent neona-tal diabetes ...
pancreatitis: new insights into acute and chronic pancreatitis Hereditary pancreatitis has recently ...
Background: Pancreatitis has a proven genetic basis in a minority of patients. Methods: Review of th...
Submitted to Digestive Disease Week 2020 and American College of Gastroenterology's 2021 Annual Scie...
International audiencePURPOSE: Hereditary pancreatitis (HP) is the primary etiology of chronic pancr...
The recent discovery of TRPV6 as a pancreatitis susceptibility gene served to identify a novel mecha...
Accessible online at: www.karger.com/journals/dig Key Words Pancreas W Chronic pancreatic disease W ...
Contains fulltext : 83242.pdf (publisher's version ) (Open Access)Chronic pancreat...
Hereditary pancreatitis (HP) is a rare heterogeneous disease with partial penetrance identified by f...
Contains fulltext : 81078.pdf (publisher's version ) (Closed access)BACKGROUND: Tr...
Identification of mutations that lead to pancreatitis and its complications has revolutionized our u...
Contains fulltext : 229360.pdf (Publisher’s version ) (Closed access)BACKGROUND: T...
an autosomal-dominant disease, with a variable expression and an estimated penetrance of 80%. The ge...
Pancreatitis is a complex acute and chronic inflammatory disease of the pancreas. Patients with chro...
Objective In chronic pancreatitis (CP), alterations in several genes have so far been described, but...
Patients with pancreatic agenesis are born without a pancreas, causing permanent neona-tal diabetes ...
pancreatitis: new insights into acute and chronic pancreatitis Hereditary pancreatitis has recently ...
Background: Pancreatitis has a proven genetic basis in a minority of patients. Methods: Review of th...
Submitted to Digestive Disease Week 2020 and American College of Gastroenterology's 2021 Annual Scie...
International audiencePURPOSE: Hereditary pancreatitis (HP) is the primary etiology of chronic pancr...