Associated Papers
Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.
Lee S et al.
Journal of Breast Cancer, 2025
Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia.
Litvinova MM et al.
Sovremennye Tekhnologii V Meditsine, 2023
Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 2015
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
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
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
Whitcomb DC et al.
Nature Genetics, 2012
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
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
Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations.
Midha S et al.
Gut, 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
Hereditary chronic pancreatitis.
Rosendahl J et al.
Orphanet Journal of Rare Diseases, 2007
Genetic background of pancreatitis.
Hirota M et al.
Postgraduate Medical Journal, 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
[Clinical implications of genetic risk factors of chronic pancreatitis].
Teich N et al.
Der Internist, 2005
Hereditary pancreatitis in a family of Aboriginal descent.
McGaughran JM et al.
Journal of Paediatrics and Child Health, 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
[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
Presence of cathepsin B in the human pancreatic secretory pathway and its role in trypsinogen activation during hereditary pancreatitis.
Kukor Z et al.
The Journal of Biological Chemistry, 2002
Genetic basis of chronic pancreatitis.
Jansen JB et al.
Scandinavian Journal of Gastroenterology. Supplement, 2002
Molecular basis of hereditary pancreatitis.
Chen JM et al.
European Journal of Human Genetics : Ejhg, 2000