Associated Papers
Pathologically relevant trypsinogen activation in pancreatitis.
Geisz-Fremy A
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2026
Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.
Bayanova M et al.
Bmc Nephrology, 2025
A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.
Vijayakumar V et al.
Cureus, 2025
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
Masson E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021.
Sahin-Tóth M
Pancreas, 2022
Chronic progression of cerulein-induced acute pancreatitis in trypsinogen mutant mice.
Jancsó Z et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Wertheim-Tysarowska K et al.
Genes, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Hereditary pancreatitis model by blastocyst complementation in mouse.
Asai A et al.
Oncotarget, 2020
Characterization of novel genetic alterations in salivary gland secretory carcinoma.
Na K et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
Etiology and Risk Factors of Acute and Chronic Pancreatitis.
Weiss FU et al.
Visceral Medicine, 2019
Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.
Jancsó Z et al.
Frontiers in Genetics, 2019
A preclinical model of chronic pancreatitis driven by trypsinogen autoactivation.
Geisz A et al.
Nature Communications, 2018
Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer.
Shelton CA et al.
The American Journal of Gastroenterology, 2018
Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.
Sikdar N et al.
Current Genomics, 2018
Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.
Sahin-Tóth M
Current Opinion in Gastroenterology, 2017
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.
Hegyi E et al.
Digestive Diseases and Sciences, 2017
Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis.
Balázs A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016
Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 2015
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
Németh BC et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
Schnúr A et al.
Gut, 2014
Pancreatic cancer risk in hereditary pancreatitis.
Weiss FU
Frontiers in Physiology, 2014
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.
Geisz A et al.
The Febs Journal, 2013
Hereditary pancreatitis for the endoscopist.
Patel MR et al.
Therapeutic Advances in Gastroenterology, 2013
Genetics and pathogenesis of chronic pancreatitis: the 2012 update.
Chen JM et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.
Szabó A et al.
The Journal of Biological Chemistry, 2012
Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations.
Bertin C et al.
The American Journal of Gastroenterology, 2012
An overview of hereditary pancreatitis.
Rebours V et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2012
A common variant of PNPLA3 (p.I148M) is not associated with alcoholic chronic pancreatitis.
Rosendahl J et al.
Plos One, 2012
Role of Intrapancreatic SPINK1/Spink3 Expression in the Development of Pancreatitis.
Ohmuraya M et al.
Frontiers in Physiology, 2012
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.
Joergensen MT et al.
Pancreas, 2011
The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis.
Gasiorowska A et al.
Digestive Diseases and Sciences, 2011
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.
Szmola R et al.
Journal of Medical Genetics, 2010
Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis.
Rebours V et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2010
Intracellular autoactivation of human cationic trypsinogen mutants causes reduced trypsinogen secretion and acinar cell death.
Kereszturi E et al.
The Journal of Biological Chemistry, 2009
The natural history of hereditary pancreatitis: a national series.
Rebours V et al.
Gut, 2009
Clinical and radiological outcome of patients suffering from chronic pancreatitis associated with gene mutations.
Frulloni L et al.
Pancreas, 2008
A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.
Felderbauer P et al.
Journal of Medical Genetics, 2008
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
Masson E et al.
Human Genetics, 2008
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.
Masson E et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2008
Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.
Rebours V et al.
The American Journal of Gastroenterology, 2008
Hereditary chronic pancreatitis.
Teich N et al.
Best Practice & Research. Clinical Gastroenterology, 2008
Histopathological features of patients with chronic pancreatitis due to mutations in the PRSS1 gene: evaluation of BRAF and KRAS2 mutations.
Felderbauer P et al.
Digestion, 2008
Copy number variations in chronic pancreatitis.
Chen JM et al.
Cytogenetic and Genome Research, 2008