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 …

The pancreatic stellate cell: a star on the rise in pancreatic diseases

MB Omary, A Lugea, AW Lowe… - The Journal of clinical …, 2007 - Am Soc Clin Investig
Pancreatic stellate cells (PaSCs) are myofibroblast-like cells found in the areas of the
pancreas that have exocrine function. PaSCs are regulated by autocrine and paracrine …

American Pancreatic Association Practice Guidelines in Chronic Pancreatitis: evidence-based report on diagnostic guidelines

DL Conwell, LS Lee, D Yadav, DS Longnecker… - Pancreas, 2014 - journals.lww.com
The diagnosis of chronic pancreatitis remains challenging in early stages of the disease.
This report defines the diagnostic criteria useful in the assessment of patients with suspected …

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

DC Whitcomb, J LaRusch, AM Krasinskas, L Klei… - Nature …, 2012 - nature.com
Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long
thought to be the primary causative agent, but genetic contributions have been of interest …

Epidemiology of recurrent acute and chronic pancreatitis: similarities and differences

JD Machicado, D Yadav - Digestive diseases and sciences, 2017 - Springer
Emerging data in the past few years suggest that acute, recurrent acute (RAP), and chronic
pancreatitis (CP) represent a disease continuum. This review discusses the similarities and …

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak… - Nature …, 2013 - nature.com
Chronic pancreatitis is an inflammatory disorder of the pancreas. We analyzed CPA1,
encoding carboxypeptidase A1, in subjects with nonalcoholic chronic pancreatitis (cases) …

Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy

H Witt, MV Apte, V Keim, JS Wilson - Gastroenterology, 2007 - Elsevier
Chronic pancreatitis (CP) is characterized by progressive pancreatic damage that eventually
results in significant impairment of exocrine as well as endocrine functions of the gland. In …

Expanding ACMG variant classification guidelines into a general framework

E Masson, WB Zou, E Génin, DN Cooper, G Le Gac… - Human Genomics, 2022 - Springer
Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …

Alcohol and smoking as risk factors in an epidemiology study of patients with chronic pancreatitis

GA Coté, D Yadav, A Slivka, RH Hawes… - Clinical …, 2011 - Elsevier
BACKGROUND & AIMS:: Alcohol has been implicated in the development of chronic
pancreatitis (CP) in 60%–90% patients, although percentages in the United States are not …

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 …