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
Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.
Masson E et al.
Gut, 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
Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.
Hang SMT et al.
Current Opinion in Lipidology, 2023
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
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
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
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
Genetic prevalence and characteristics in children with recurrent pancreatitis.
Sultan M et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
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
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
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].
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
R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis.
Tautermann G et al.
Digestion, 2001
[Genetic testing for acute or chronic pancreatitis].
Maire F
Gastroenterologie Clinique Et Biologique, 0