Associated Papers
Early-Onset Fibrocalculous Pancreatic Diabetes Associated With SPINK1 Variants In Trans: A Rare Genetic Case.
Kostrzewska P et al.
Diabetes Care, 2026
Comparison of Familial and Sporadic Pancreatic Cancer: Clinicopathological and Genomic Features.
Miura Y et al.
Annals of Surgical Oncology, 2026
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 2026
Gene, genetics and genetic medicines in gastroenterology: Current status and its future.
Kumar A et al.
World Journal of Gastroenterology, 2026
Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.
Muniroh M et al.
Scientific Reports, 2025
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
Expanding the ethnic and geographic spectrum of hereditary pancreatitis: first report of a Tibetan case with compound SPINK1 variants.
Chen Y et al.
Hepatobiliary Surgery and Nutrition, 2025
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
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 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
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 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
Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.
Nahom D et al.
Familial Cancer, 2025
Germline mutations and pancreatic cancer risk in chronic pancreatitis.
Wu H 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
Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.
Wang QW et al.
Human Genomics, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 2025
Genetics of constant and severe pain in the NAPS2 cohort of recurrent acute and chronic pancreatitis patients.
Dunbar EK et al.
The Journal of Pain, 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
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
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
Next-Generation Sequencing: An Advanced Diagnostic Tool for Detection of Pancreatic Disease/Disorder.
Biswas S et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 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
Puestow surgery in a SPINK mutation chronic pancreatitis: a rare case report.
Solis-Pazmino P et al.
Journal of Surgical Case Reports, 2024
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis.
Bontempo P et al.
Biomedicines, 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
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Wu H et al.
Human Genomics, 2024
Heterozygous Spink1 Deficiency Promotes Trypsin-dependent Chronic Pancreatitis in Mice.
Demcsák A et al.
Cellular and Molecular Gastroenterology and Hepatology, 2024
Germline multigene panel testing in acute and chronic pancreatitis.
Ramsey ML et al.
Plos One, 2024
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 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
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome 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
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Masson E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 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
Inhibition of mouse trypsin isoforms by SPINK1 and effect of human pancreatitis-associated mutations.
Morales Granda NC 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
Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.
Hang SMT et al.
Current Opinion in Lipidology, 2023