Associated Papers
Pathologically relevant trypsinogen activation in pancreatitis.
Geisz-Fremy A
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2026
Genetic and Electrophysiological Characterization of Acute Recurrent Pancreatitis in Israeli Patients.
Tiosano M et al.
Pancreas, 2025
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
Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.
Masson E et al.
Gut, 2025
A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.
Vijayakumar V et al.
Cureus, 2025
Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.
Sándor M et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia.
Litvinova MM et al.
Sovremennye Tekhnologii V Meditsine, 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
Deficient Endoplasmic Reticulum Acetyl-CoA Import in Pancreatic Acinar Cells Leads to Chronic Pancreatitis.
Cooley MM et al.
Cellular and Molecular Gastroenterology and Hepatology, 2021
Impact of hereditary pancreatitis on patients and their families.
Shelton CA et al.
Journal of Genetic Counseling, 2020
Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis.
Weiss FU et al.
Gut, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 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
Mutation That Promotes Activation of Trypsinogen Increases Severity of Secretagogue-Induced Pancreatitis in Mice.
Jancsó Z et al.
Gastroenterology, 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
An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis.
Jalaly NY et al.
The American Journal of Gastroenterology, 2017
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ et al.
The Journal of Pediatrics, 2017
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.
Hegyi E et al.
Digestive Diseases and Sciences, 2017
Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
Werlin S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2015
Hereditary pancreatitis: dilemmas in differential diagnosis and therapeutic approach.
Mastoraki A et al.
Journal of Gastrointestinal Cancer, 2014
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
Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.
Hamoir C et al.
Digestion, 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
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
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
Hereditary pancreatitis in children: surgical implications with special regard to genetic background.
Schmitt F et al.
Journal of Pediatric Surgery, 2009
The natural history of hereditary pancreatitis: a national series.
Rebours V et al.
Gut, 2009