Associated Papers
[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.
Li Y et al.
Medicine, 2025
Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.
Budhwar V et al.
Scientific Reports, 2024
Genetic Variability in the CPA1 Gene and Its Impact on Acute Pancreatitis Risk: New Insights from a Large-Scale Study.
Głuszek S et al.
International Journal of Molecular Sciences, 2024
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis.
Choi YH et al.
The Korean Journal of Internal Medicine, 2023
Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.
Berke G 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
High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.
Mastromatteo S et al.
Hgg Advances, 2023
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 analysis of pancreatic phospholipase A2 (PLA2G1B) in patients with chronic pancreatitis.
Ewers M et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
Takáts A et al.
Plos One, 2022
Structural Basis of the Pancreatitis-Associated Autoproteolytic Failsafe Mechanism in Human Anionic Trypsin.
Nagel F et al.
Journal of Inflammation Research, 2022
Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.
Suzuki M et al.
Diagnostics (basel, Switzerland), 2020
Meta-analysis and field synopsis of genetic variants associated with the risk and severity of acute pancreatitis.
van den Berg FF et al.
Bjs Open, 2020
Natural single-nucleotide deletion in chymotrypsinogen C gene increases severity of secretagogue-induced pancreatitis in C57BL/6 mice.
Geisz A et al.
Jci Insight, 2019
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2018
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.
Hegyi E et al.
Digestive Diseases and Sciences, 2017
Association Analysis of PRSS1-PRSS2 and CLDN2-MORC4 Variants in Nonalcoholic Chronic Pancreatitis Using Tropical Calcific Pancreatitis as Model.
Paliwal S et al.
Pancreas, 2016
Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis.
Jancsó Z et al.
The Journal of Biological Chemistry, 2016
Common Variants in CLDN2 and MORC4 Genes Confer Disease Susceptibility in Patients with Chronic Pancreatitis.
Giri AK et al.
Plos One, 2016
Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study.
Derikx MH et al.
Gut, 2015
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
Genetics of pancreatitis: the 2014 update.
Masamune A
The Tohoku Journal of Experimental Medicine, 2014
Functional effect of polymorphisms in the promoter of TNFAIP3 (A20) in acute pancreatitis in the Han Chinese population.
Liu Y et al.
Plos One, 2014
Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.
Paliwal S et al.
Gut, 2013
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Beer S et al.
Gut, 2013
Hereditary pancreatitis for the endoscopist.
Patel MR et al.
Therapeutic Advances in Gastroenterology, 2013
Role of Intrapancreatic SPINK1/Spink3 Expression in the Development of Pancreatitis.
Ohmuraya M et al.
Frontiers in Physiology, 2012
Chymotrypsin C mutations in chronic pancreatitis.
Zhou J et al.
Journal of Gastroenterology and Hepatology, 2011
Genetic background is different between sentinel and recurrent acute pancreatitis.
Masamune A et al.
Journal of Gastroenterology and Hepatology, 2011
Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for "protective" (PRSS2) and "destructive" (CTRC) genetic factors.
Felderbauer P et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2011
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
Corleto VD et al.
Bmc Gastroenterology, 2010
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
-651C/T promoter polymorphism in the CD14 gene is associated with severity of acute pancreatitis in Japan.
Masamune A et al.
Journal of Gastroenterology, 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
A loss-of-function p.G191R variant in the anionic trypsinogen (PRSS2) gene in Japanese patients with pancreatic disorders.
Kume K et al.
Gut, 2009
Variations in trypsinogen expression may influence the protective effect of the p.G191R PRSS2 variant in chronic pancreatitis.
Weiss FU et al.
Gut, 2009
The G191R variant in the PRSS2 gene does not play a role in protection against tropical calcific pancreatitis.
Mahurkar S et al.
Gut, 2009
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.
Kereszturi E et al.
Human Mutation, 2009
Microsatellite polymorphism in intron 2 of human Toll-like receptor 2 gene is associated with susceptibility to acute pancreatitis in Japan.
Takagi Y et al.
Human Immunology, 2009
Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis.
Sundaresan S et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2009
Genetic aspects of tropical calcific pancreatitis.
Witt H et al.
Reviews in Endocrine & Metabolic Disorders, 2008
A loss of function polymorphism (G191R) of anionic trypsinogen (PRSS2) confers protection against chronic pancreatitis.
Santhosh S et al.
Pancreas, 2008
Genetics of pancreatitis: a guide for clinicians.
Treiber M et al.
Current Gastroenterology Reports, 2008