Associated Papers
Longitudinal clinical characteristics of misfolding-induced hereditary pancreatitis caused by PRSS1 p.L104P variant in a Hungarian family.
Bokor BA et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2026
The Challenge of Type 3c Diabetes: From Accurate Diagnosis to Effective Treatment.
Milani I et al.
Jcem Case Reports, 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
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
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
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Zou WB et al.
Human Genetics, 2022
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Wertheim-Tysarowska K et al.
Genes, 2021
Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis.
Weiss FU et al.
Gut, 2020
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects.
Enea A et al.
Gut, 2019
Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.
Hegyi E et al.
Gut, 2019
Chronic pancreatitis: an update on genetic risk factors.
Weiss FU et al.
Current Opinion in Gastroenterology, 2018
Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.
Németh BC et al.
Gut, 2017
A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis.
Kujko AA et al.
Gut, 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
New insights into the pathways initiating and driving pancreatitis.
Gukovskaya AS et al.
Current Opinion in Gastroenterology, 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 (PRSS1) variants and chronic pancreatitis.
Németh BC et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014
Mutations in PRSS1 put into perspective.
Sand PG
International Journal of Medical Sciences, 2014
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
Three female familial cases of solid pseudopapillary tumors with a protease serine 1 gene mutation.
Gou S et al.
Pancreas, 2013
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
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
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
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
Genetic background of pancreatitis.
Hirota M et al.
Postgraduate Medical Journal, 2006
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Keiles S et al.
Pancreas, 2006
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
Teich N et al.
Human Mutation, 2006
Trypsinogen mutations in pancreatic disorders.
Vitone LJ et al.
Endocrinology and Metabolism Clinics of North America, 2006
Germline mutations and gene polymorphism associated with human pancreatitis.
Weiss FU et al.
Endocrinology and Metabolism Clinics of North America, 2006
A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene.
Pho-Iam T et al.
World Journal of Gastroenterology, 2005
Genetics of pancreatitis.
Keim V
Scandinavian Journal of Surgery : Sjs : Official Organ for the Finnish Surgical Society and the Scandinavian Surgical Society, 2005
Cationic trypsinogen mutations and pancreatitis.
Howes N et al.
Gastroenterology Clinics of North America, 2004
Clinical and genetic characteristics of hereditary pancreatitis in Europe.
Howes N et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2004
Hereditary pancreatitis: clinical characteristics and diagnostic criteria in Japan.
Otsuki M et al.
Pancreas, 2004
[Hereditary pancreatitis].
Nishimori I et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2004
[Hereditary pancreatitis].
Martínez Sempere J et al.
Gastroenterologia Y Hepatologia, 2004
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
Bernardino AL et al.
Jop : Journal of the Pancreas, 2003
[A case of chronic pancreatitis in a young woman with the cationic trypsinogen (PRSS1) gene mutation].
Kakinoki K et al.
Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2002
Genetics and pancreatic disease.
Schneider A et al.
Current Opinion in Gastroenterology, 2002
Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.
Teich N et al.
The American Journal of Gastroenterology, 2002