Associated Papers
Genetic Association in Immunoglobulin G4-Related Disease: A Systematic Review.
Hei Lai KK et al.
International Archives of Allergy and Immunology, 2025
IgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets.
Tedesco L et al.
Allergy, 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
Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.
Hang SMT et al.
Current Opinion in Lipidology, 2023
Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).
Sándor M et al.
International Journal of Molecular Sciences, 2022
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis.
Weiss FU et al.
Gut, 2020
PRSS1 mutation: a possible pathomechanism of pancreatic carcinogenesis and pancreatic cancer.
Liu Q et al.
Molecular Medicine (cambridge, Mass.), 2019
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
Chronic pancreatitis: an update on genetic risk factors.
Weiss FU et al.
Current Opinion in Gastroenterology, 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
Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis.
Jancsó Z et al.
The Journal of Biological Chemistry, 2016
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
Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis.
Chang MC et al.
Journal of Gastroenterology and Hepatology, 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
Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.
Hegyi E et al.
Jop : Journal of the Pancreas, 2014
Mutations in PRSS1 put into perspective.
Sand PG
International Journal of Medical Sciences, 2014
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Beer S et al.
Gut, 2013
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.
Wang W et al.
Bmj Open, 2013
PRSS1 intron mutations in patients with pancreatic cancer and chronic pancreatitis.
Gao F et al.
Molecular Medicine Reports, 2012
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
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
Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects.
Chang YT et al.
Gut, 2009
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.
Kereszturi E et al.
Human Mutation, 2009
Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis.
Liu QC et al.
Chinese Medical Journal, 2008
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Keiles S et al.
Pancreas, 2006
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
Bernardino AL et al.
Jop : Journal of the Pancreas, 2003