Associated Papers
Pancreatitis-associated chymotrypsin C (CTRC) variant p.R240Q selectively impairs trypsinogen degradation through disruption of long-range electrostatic interactions.
Nagy ZA et al.
Scientific Reports, 2026
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 2026
[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
Sequence analysis of the 5' region of the chymotrypsin C (CTRC) gene in chronic pancreatitis.
Karamya ZA et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025
The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.
Abu-El-Haija M et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.
Dermine S et al.
Clinics and Research in Hepatology and Gastroenterology, 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
Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.
Hang SMT et al.
Current Opinion in Lipidology, 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
Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
Takáts A et al.
Plos One, 2022
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Cowan RW et al.
Clinical and Translational Gastroenterology, 2021
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Wertheim-Tysarowska K et al.
Genes, 2021
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.
Chen JM et al.
Genes, 2021
Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.
Suzuki M et al.
Diagnostics (basel, Switzerland), 2020
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.
Cichoż-Lach H et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2019
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
Zou WB et al.
Clinical and Translational Gastroenterology, 2018
Genetic predisposition in pancreatitis.
Gonska T
Current Opinion in Pediatrics, 2018
Chronic pancreatitis: an update on genetic risk factors.
Weiss FU et al.
Current Opinion in Gastroenterology, 2018
Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.
Sikdar N et al.
Current Genomics, 2018
Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry.
Phillips AE et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018
Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.
Grabarczyk AM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD.
Kim HS et al.
Gut, 2017
CTRC gene polymorphism may increase pancreatic cancer risk - preliminary study.
Głuszek S et al.
Polski Przeglad Chirurgiczny, 2017
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.
Hegyi E et al.
Digestive Diseases and Sciences, 2017
CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 2017
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.
Palermo JJ et al.
Pancreas, 2016
Frequency of Tabagism and N34S and P55S Mutations of Serine Peptidase Inhibitor, Kazal Type 1 (SPINK1) and R254W Mutation of Chymotrypsin C (CTRC) in Patients With Chronic Pancreatitis and Controls.
da Costa MZ et al.
Pancreas, 2016
Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis.
Fjeld K 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
Genetic susceptibility factors for alcohol-induced chronic pancreatitis.
Aghdassi AA et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2015
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.
Tomaiuolo AC et al.
The Journal of Molecular Diagnostics : Jmd, 2015
The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.
LaRusch J et al.
Clinical and Translational Gastroenterology, 2015
The genetic predisposition and its impact on the diabetes mellitus development in patients with alcoholic chronic pancreatitis.
Madro A et al.
Gastroenterology Research and Practice, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Genetics of pancreatitis: the 2014 update.
Masamune A
The Tohoku Journal of Experimental Medicine, 2014
Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency.
Tremblay K et al.
Frontiers in Genetics, 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
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Witt H et al.
Nature Genetics, 2013
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Rosendahl J et al.
Gut, 2013
Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitis.
Masamune A et al.
Gut, 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
Case records of the Massachusetts General Hospital. Case 32-2011. A 19-year-old man with recurrent pancreatitis.
Shah U et al.
The New England Journal of Medicine, 2011
Genetics of pancreatitis.
LaRusch J et al.
Current Opinion in Gastroenterology, 2011