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
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
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
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
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
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Hirai S et al.
Journal of Pediatric Gastroenterology and Nutrition, 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 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
The histopathology of SPINK1-associated chronic pancreatitis.
Jones TE et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 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
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
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 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
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2016
Hereditary pancreatitis: current perspectives.
Raphael KL et al.
Clinical and Experimental Gastroenterology, 2016
Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 2015
Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
Werlin S et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Genetics of acute and chronic pancreatitis: An update.
Ravi Kanth V et al.
World Journal of Gastrointestinal Pathophysiology, 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
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
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
Chymotrypsin C mutations in chronic pancreatitis.
Zhou J et al.
Journal of Gastroenterology and Hepatology, 2011
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.
Derikx MH et al.
European Journal of Gastroenterology & Hepatology, 2009
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
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
Gaitch N et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0