Genetics, cell biology, and pathophysiology of pancreatitis
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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
Purpose Acute pancreatitis is one of the common causes of asparaginase intolerance. The
mechanism is unknown, and genetic predisposition to asparaginase-induced pancreatitis …
mechanism is unknown, and genetic predisposition to asparaginase-induced pancreatitis …