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
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
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 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
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Murali K et al.
Hereditary Cancer in Clinical Practice, 2021
Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis.
Weiss FU et al.
Gut, 2020
Hereditary pancreatitis model by blastocyst complementation in mouse.
Asai A et al.
Oncotarget, 2020
Diabetes of the Exocrine Pancreas Related to Hereditary Pancreatitis, an Update.
Ramalho GX et al.
Current Diabetes Reports, 2020
Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.
Wang W et al.
Clinical and Translational Gastroenterology, 2020
Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.
Jancsó Z et al.
Frontiers in Genetics, 2019
Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer.
Shelton CA et al.
The American Journal of Gastroenterology, 2018
Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis.
Xiao Y et al.
The Journal of Pediatrics, 2017
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
Clinical aspects of pancreatogenic diabetes secondary to hereditary pancreatitis.
Dytz MG et al.
Diabetology & Metabolic Syndrome, 2017
Hereditary pancreatitis of 3 Chinese children: Case report and literature review.
Dai LN et al.
Medicine, 2016
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
A Molecular Evolutionary Reference for the Human Variome.
Liu L et al.
Molecular Biology and Evolution, 2016
Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study.
Dytz MG et al.
Medicine, 2015
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
Rygiel AM et al.
Human Mutation, 2015
Pedigree of a kindred with Transheterozygous PRSS1 R122C and SPINK1 N34S mutations.
Sinha A et al.
Pancreas, 2014
Hereditary pancreatitis: dilemmas in differential diagnosis and therapeutic approach.
Mastoraki A et al.
Journal of Gastrointestinal Cancer, 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
Mutations in PRSS1 put into perspective.
Sand PG
International Journal of Medical Sciences, 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
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
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
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.
Joergensen MT et al.
Pancreas, 2011
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.
Lee YJ et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Genetic basis of chronic pancreatitis in Asia Pacific region.
Reddy DN et al.
Journal of Gastroenterology and Hepatology, 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
Genetics of pancreatitis: a guide for clinicians.
Witt H
Digestive Diseases (basel, Switzerland), 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 caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.
Kereszturi E et al.
Human Mutation, 2009
Genetic mutations in a Spanish population with chronic pancreatitis.
Mora J et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2009
[Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain].
Derikx MH et al.
Nederlands Tijdschrift Voor Geneeskunde, 2009
Clinical and radiological outcome of patients suffering from chronic pancreatitis associated with gene mutations.
Frulloni L et al.
Pancreas, 2008
Genetics of pancreatitis: a guide for clinicians.
Treiber M et al.
Current Gastroenterology Reports, 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
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Boulling A et al.
European Journal of Human Genetics : Ejhg, 2007
Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis.
Räty S et al.
Scandinavian Journal of Gastroenterology, 2007
Hereditary chronic pancreatitis.
Rosendahl J et al.
Orphanet Journal of Rare Diseases, 2007