Associated Papers
Diverse Misfolding Mutant Digestive Enzymes Cause Chronic Pancreatitis Through Common Pathways.
Wilhelm SJ et al.
Cellular and Molecular Gastroenterology and Hepatology, 2026
Distinct chronic Pancreatitis Genetic Variants CPA1 N256K and PNLIP T221M Share Common Pathological Grounds.
Cooley MM et al.
Cellular and Molecular Gastroenterology and Hepatology, 2025
Misfolding CPA1 mutation accelerates precancerous pancreas lesions in KC mice.
Demcsák A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2025
A Common CTRB misfolding variant associated with pancreatic cancer risk causes ER stress and inflammation in mice.
Bodas C et al.
Gut, 2025
CPA1 S282P mutation leads to chronic pancreatitis in rabbits.
Yang J et al.
Zoological Research, 2025
AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense CPA1 variants from pancreatitis cases.
Sándor M et al.
Gut, 2025
Familial pancreatitis associated with a splice-site variant in CPA1.
Shen F et al.
Gut, 2025
Strengths and limitations of AlphaMissense in CPA1 missense variant classification.
Wang YH et al.
Gut, 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
Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis.
Sándor M et al.
Gut, 2024
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.
Yu B et al.
Pediatric Investigation, 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
Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis.
Zhu G et al.
Gut, 2023
Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).
Sándor M et al.
International Journal of Molecular Sciences, 2022
The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice.
Fjeld K et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Misfolding-induced chronic pancreatitis in CPA1 N256K mutant mice is unaffected by global deletion of Ddit3/Chop.
Németh BC et al.
Scientific Reports, 2022
Cigarette smoke toxin hydroquinone and misfolding pancreatic lipase variant cooperatively promote endoplasmic reticulum stress and cell death.
Kassay N 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
Deficient Endoplasmic Reticulum Acetyl-CoA Import in Pancreatic Acinar Cells Leads to Chronic Pancreatitis.
Cooley MM et al.
Cellular and Molecular Gastroenterology and Hepatology, 2021
Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.
Suzuki M et al.
Diagnostics (basel, Switzerland), 2020
Ethanol feeding accelerates pancreatitis progression in CPA1 N256K mutant mice.
Orekhova A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2020
Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance.
Németh BC et al.
Gut, 2020
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.
Hegyi E et al.
Gut, 2019
A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis.
Kujko AA et al.
Gut, 2017
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.
Wu H et al.
Human Mutation, 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
Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.
Nakano E et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015
Genetics of pancreatitis: the 2014 update.
Masamune A
The Tohoku Journal of Experimental Medicine, 2014
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Witt H et al.
Nature Genetics, 2013