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
Hereditary pancreatitis with a N29I mutation in the PRSS1 (Trypsinogen) gene: A case report from India.
Rodrigues M et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2025
[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
Case Study: Genetic and In Silico Analysis of Familial Pancreatitis.
Sharma Y et al.
Genes, 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
An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.
Prasad H et al.
Human Molecular Genetics, 2024
Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases.
Stefanovics R et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
Cheema HA et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 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
Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.
Narta K et al.
Genes, 2023
Hereditary pancreatitis: An updated review in pediatrics.
Panchoo AV et al.
World Journal of Clinical Pediatrics, 2022
Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
Takáts A et al.
Plos One, 2022
Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.
Suzuki M et al.
Diagnostics (basel, Switzerland), 2020
Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis.
Nabi Z et al.
Digestive Diseases and Sciences, 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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype.
Avanthi US et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of 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
CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 2017
A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.
Xiao X et al.
The Journal of Biological Chemistry, 2016
Hereditary pancreatitis: current perspectives.
Raphael KL et al.
Clinical and Experimental Gastroenterology, 2016
ER stress-associated CTRC mutants decrease stimulated pancreatic zymogen secretion through SIRT2-mediated microtubule dysregulation.
Binker MG et al.
Biochemical and Biophysical Research Communications, 2015
Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 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
Genetics of pancreatitis: the 2014 update.
Masamune A
The Tohoku Journal of Experimental Medicine, 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
Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitis.
Masamune A et al.
Gut, 2013
Asparagine-linked glycosylation of human chymotrypsin C is required for folding and secretion but not for enzyme activity.
Bence M et al.
The Febs Journal, 2011
Chymotrypsin C mutations in chronic pancreatitis.
Zhou J et al.
Journal of Gastroenterology and Hepatology, 2011
Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells.
Szmola R et al.
Gut, 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
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.
Derikx MH et al.
European Journal of Gastroenterology & Hepatology, 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
Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.
Chang MC 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
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
Masson E et al.
Human Genetics, 2008
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
Rosendahl J et al.
Nature Genetics, 2008