Associated Papers
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
A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.
Vijayakumar V et al.
Cureus, 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
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
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Wertheim-Tysarowska K et al.
Genes, 2021
Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.
Jancsó Z et al.
Frontiers in Genetics, 2019
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.
Hegyi E et al.
Digestive Diseases and Sciences, 2017
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
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
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
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
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
Grocock CJ et al.
Gut, 2010
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
Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family.
Arduino C et al.
Gut, 2005
[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