Genetics, cell biology, and pathophysiology of pancreatitis

J Mayerle, M Sendler, E Hegyi, G Beyer, MM Lerch… - Gastroenterology, 2019 - Elsevier
Since the discovery of the first trypsinogen mutation in families with hereditary pancreatitis,
pancreatic genetics has made rapid progress. The identification of mutations in genes …

Genetic risk factors for pancreatic disorders

DC Whitcomb - Gastroenterology, 2013 - Elsevier
A combination of genetic, environmental, and metabolic factors contribute to the
development and recurrence of acute and chronic pancreatitis; information on all of these is …

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis

J Rosendahl, H Witt, R Szmola, E Bhatia, B Ózsvári… - Nature …, 2008 - nature.com
Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the
digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the …

Genetic risk in chronic pancreatitis: the trypsin-dependent pathway

E Hegyi, M Sahin-Tóth - Digestive diseases and sciences, 2017 - Springer
Genetic investigations have provided unique insight into the mechanism of chronic
pancreatitis in humans and firmly established that uncontrolled trypsin activity is a central …

Genetics of pancreatitis

J LaRusch, DC Whitcomb - Current opinion in gastroenterology, 2011 - journals.lww.com
Pancreatic diseases have a strong genetic component. Rather than a classic Mendelian
disorder, recurrent acute and chronic pancreatitis represents truly complex diseases with the …

Genetic aspects of pancreatitis

DC Whitcomb - Annual review of medicine, 2010 - annualreviews.org
Acute pancreatitis and chronic pancreatitis are complex inflammatory disorders of the
pancreas with unpredictable severity, complications, and clinical courses. Growing evidence …

The pancreas and known factors of acute pancreatitis

J Walkowska, N Zielinska, P Karauda… - Journal of clinical …, 2022 - mdpi.com
Pancreatitis is regarded by clinicians as one of the most complicated and clinically
challenging of all disorders affecting the abdomen. It is classified on the basis of clinical …

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis

E Masson, JM Chen, V Scotet, C Le Maréchal, C Férec - Human genetics, 2008 - Springer
Extensive genetic studies of chronic pancreatitis over the past decade have highlighted the
importance of a tightly regulated balance between activation and inactivation of trypsin …

Hereditary pancreatitis caused by mutation‐induced misfolding of human cationic trypsinogen: a novel disease mechanism

É Kereszturi, R Szmola, Z Kukor, P Simon… - Human …, 2009 - Wiley Online Library
We investigated the biochemical properties and cellular expression of the c. 346C> T (p.
R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German …

Clinical and genetic risk factors for acute pancreatitis in patients with acute lymphoblastic leukemia

C Liu, W Yang, M Devidas, C Cheng, D Pei… - Journal of Clinical …, 2016 - ascopubs.org
Purpose Acute pancreatitis is one of the common causes of asparaginase intolerance. The
mechanism is unknown, and genetic predisposition to asparaginase-induced pancreatitis …