Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 2025
IgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets.
Tedesco L et al.
Allergy, 2025
PRSS1, SPINK1 Mutations and Associated Factors in Vietnamese Patients With Chronic Pancreatitis.
Vo TTL et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2025
Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.
Masson E et al.
Gut, 2025
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.
Silverstein S et al.
Molecular Genetics and Metabolism, 2025
A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.
Vijayakumar V et al.
Cureus, 2025
Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.
Sándor M et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025
Case Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations.
Xu J et al.
Frontiers in Genetics, 2025
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
Masson E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Cancer carrier screening in the general population using whole-genome sequencing.
Chang YS et al.
Cancer Medicine, 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
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.
Zhang Y et al.
Journal of Clinical Laboratory Analysis, 2022
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Wertheim-Tysarowska K 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
Impact of hereditary pancreatitis on patients and their families.
Shelton CA et al.
Journal of Genetic Counseling, 2020
Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis.
Weiss FU et al.
Gut, 2020
PRSS1 mutation: a possible pathomechanism of pancreatic carcinogenesis and pancreatic cancer.
Liu Q et al.
Molecular Medicine (cambridge, Mass.), 2019
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
Characterization of an N-terminal mutant of αA-crystallin αA-R21Q associated with congenital cataract.
Phadte AS et al.
Experimental Eye Research, 2018
Chronic pancreatitis: an update on genetic risk factors.
Weiss FU et al.
Current Opinion in Gastroenterology, 2018
Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer.
Shelton CA et al.
The American Journal of Gastroenterology, 2018
Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.
Sahin-Tóth M
Current Opinion in Gastroenterology, 2017
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ et al.
The Journal of Pediatrics, 2017
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.
Hegyi E et al.
Digestive Diseases and Sciences, 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
Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis.
Balázs A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016
Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis.
Sun XT et al.
Pancreas, 2015
Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis.
Chang MC et al.
Journal of Gastroenterology and Hepatology, 2014
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
Kurian AW et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014
Hereditary pancreatitis: dilemmas in differential diagnosis and therapeutic approach.
Mastoraki A et al.
Journal of Gastrointestinal Cancer, 2014
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
Németh BC et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
Schnúr A et al.
Gut, 2014
Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.
Hegyi E et al.
Jop : Journal of the Pancreas, 2014
Mutations in PRSS1 put into perspective.
Sand PG
International Journal of Medical Sciences, 2014
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
Hereditary pancreatitis for the endoscopist.
Patel MR et al.
Therapeutic Advances in Gastroenterology, 2013
Identification of subunit-subunit interaction sites in αA-WT crystallin and mutant αA-G98R crystallin using isotope-labeled cross-linker and mass spectrometry.
Kannan R et al.
Plos One, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013