Premature activation of digestive enzymes in the pancreas has been linked to development
of pancreatitis for more than a century. Recent development of novel models to study the …

Genetic investigations have provided unique insight into the mechanism of chronic
pancreatitis in humans and firmly established that uncontrolled trypsin activity is a central …

Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …

Genetic risk in chronic pancreatitis: the misfolding-depende... : Current Opinion in
Gastroenterology Genetic risk in chronic pancreatitis: the misfolding-dependent pathway …

Objective Chronic pancreatitis is a progressive, relapsing inflammatory disorder of the
pancreas, which often develops in the background of genetic susceptibility. Recently, loss-of …

The endoplasmic reticulum (ER) is the site of synthesis and folding of membrane and
secretory proteins. The fraction of protein passing through the ER represents a large …

Purpose Loss of function variants of the transient receptor potential cation channel,
subfamily V, member 6 (TRPV6) have been recently associated with chronic pancreatitis …

We read with great interest the recent publication by Németh et al. 1 in which the authors
demonstrate that a misfolding human cationic trypsinogen (serine protease 1, PRSS1) …

Background PRSS1 was the first reported chronic pancreatitis (CP) gene. The existence of
both gain-of-function (GoF) and gain-of-proteotoxicity (GoP) pathological PRSS1 variants …

Background Previous studies revealed somatic mutations of the cationic trypsinogen gene
(PRSS1) in patients with chronic pancreatitis and pancreatic cancer. However, whether …