Associated Papers
Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.
Masson E et al.
Gut, 2025
Cystic fibrosis transmembrane conductance regulator (CFTR) variants and CFTR function in patients with pancreatitis.
Ooi CY et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Reply to: Cystic fibrosis transmembrane conductance regulator (CFTR) variants and CFTR function in patients with pancreatitis.
Melotti P et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
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
Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.
Zhang Y et al.
Journal of Clinical Laboratory Analysis, 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
Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
Ohmoto A et al.
International Journal of Molecular Sciences, 2019
Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.
Sahin-Tóth M
Current Opinion in Gastroenterology, 2017
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
Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis.
Sun XT et al.
Pancreas, 2015
Protein surface charge of trypsinogen changes its activation pattern.
Buettner K et al.
Bmc Biotechnology, 2014
Hereditary pancreatitis: dilemmas in differential diagnosis and therapeutic approach.
Mastoraki A et al.
Journal of Gastrointestinal Cancer, 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
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
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
Masson E et al.
Plos One, 2013
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
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
Advances in the etiology of chronic pancreatitis.
Lerch MM et al.
Digestive Diseases (basel, Switzerland), 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
The natural history of hereditary pancreatitis: a national series.
Rebours V et al.
Gut, 2009
CFTR polymorphisms in patients with alcoholic chronic pancreatitis.
da Costa MZ 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
Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany.
Weiss FU et al.
The American Journal of Gastroenterology, 2008
Genetic aspects of tropical calcific pancreatitis.
Witt H et al.
Reviews in Endocrine & Metabolic Disorders, 2008
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
Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.
Rebours V et al.
The American Journal of Gastroenterology, 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
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Masson E et al.
European Journal of Human Genetics : Ejhg, 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
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
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
Teich N et al.
Human Mutation, 2004
Genetic testing in chronic pancreatitis.
Tazelaar JP et al.
Expert Review of Molecular Diagnostics, 2003