Associated Papers
Risk-stratified surveillance for individuals in the UK at high risk of developing pancreatic cancer: Outcomes from the European Registry of Hereditary Pancreatic Diseases (EUROPAC).
Hopley PJ et al.
European Journal of Cancer (oxford, England : 1990), 2026
Longitudinal clinical characteristics of misfolding-induced hereditary pancreatitis caused by PRSS1 p.L104P variant in a Hungarian family.
Bokor BA et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2026
Pathologically relevant trypsinogen activation in pancreatitis.
Geisz-Fremy A
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2026
Gene, genetics and genetic medicines in gastroenterology: Current status and its future.
Kumar A et al.
World Journal of Gastroenterology, 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
TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.
Masamune A et al.
Journal of Gastroenterology, 2025
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 2025
Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.
Bayanova M et al.
Bmc Nephrology, 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
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.
Wang YC et al.
American Journal of Human Genetics, 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
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
CPA1 S282P mutation leads to chronic pancreatitis in rabbits.
Yang J et al.
Zoological Research, 2025
Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.
Masson E et al.
Gut, 2025
Genetic Variants in SPINK1 , PRSS1, or CFTR Are Not Associated With The Development of Post-ERCP Pancreatitis.
de Jong MJP et al.
Pancreas, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 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
Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.
Budhwar V et al.
Scientific Reports, 2024
Understanding familial risk of pancreatic ductal adenocarcinoma.
Paranal RM et al.
Familial Cancer, 2024
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
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Case Report: Chronic pancreatitis in children as the cumulative effect of bilio-pancreatic abnormalities and genetic mutations.
Destro F et al.
Frontiers in Pediatrics, 2024
Germline multigene panel testing in acute and chronic pancreatitis.
Ramsey ML et al.
Plos One, 2024
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
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
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 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
Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.
Hang SMT et al.
Current Opinion in Lipidology, 2023
Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.
van 't Erve I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Mouse model of PRSS1 p.R122H-related hereditary pancreatitis highlights context-dependent effect of autolysis-site mutation.
Jancsó Z et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.
Mastromatteo S et al.
Hgg Advances, 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
High Clinical and Genetic Similarity Between Chronic Pancreatitis Associated With Light-to-Moderate Alcohol Consumption and Classical Alcoholic Chronic Pancreatitis.
Wang YC et al.
Gastro Hep Advances, 2023
A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress.
Thiel F et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
The Role of Gut Microbiota and Genetic Susceptibility in the Pathogenesis of Pancreatitis.
Xu F et al.
Gut and Liver, 2022
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Zou WB et al.
Human Genetics, 2022
Wild-Type Human PRSS2 and PRSS1R122H Cooperatively Initiate Spontaneous Hereditary Pancreatitis in Transgenic Mice.
Wang J et al.
Gastroenterology, 2022
The clinical and genetic features of hereditary pancreatitis in South Australia.
Wu D et al.
The Medical Journal of Australia, 2022
Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021.
Sahin-Tóth M
Pancreas, 2022
Chronic progression of cerulein-induced acute pancreatitis in trypsinogen mutant mice.
Jancsó Z et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
Yin L et al.
Jama Network Open, 2022
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
Hamada S et al.
Human Mutation, 2022
Hereditary pancreatitis: An updated review in pediatrics.
Panchoo AV et al.
World Journal of Clinical Pediatrics, 2022