Associated Papers
Pathologically relevant trypsinogen activation in pancreatitis.
Geisz-Fremy A
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 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
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
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
Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.
Xing Y et al.
Frontiers in Genetics, 2025
Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.
Wei A et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 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
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data.
Veneruso I et al.
Genes, 2023
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 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
High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.
Mastromatteo S et al.
Hgg Advances, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
The Role of Gut Microbiota and Genetic Susceptibility in the Pathogenesis of Pancreatitis.
Xu F et al.
Gut and Liver, 2022
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Tóth A et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
The clinical and genetic features of hereditary pancreatitis in South Australia.
Wu D et al.
The Medical Journal of Australia, 2022
Haplotype-resolved de novo assembly of a Tujia genome suggests the necessity for high-quality population-specific genome references.
Lou H et al.
Cell Systems, 2022
Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021.
Sahin-Tóth M
Pancreas, 2022
NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis.
Génin E et al.
Gut, 2022
Hereditary pancreatitis: An updated review in pediatrics.
Panchoo AV et al.
World Journal of Clinical Pediatrics, 2022
Evolutionary expansion of polyaspartate motif in the activation peptide of mouse cationic trypsinogen limits autoactivation and protects against pancreatitis.
Orekhova A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Wertheim-Tysarowska K et al.
Genes, 2021
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 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
Hereditary pancreatitis model by blastocyst complementation in mouse.
Asai A et al.
Oncotarget, 2020
Characterization of novel genetic alterations in salivary gland secretory carcinoma.
Na K et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Natural single-nucleotide deletion in chymotrypsinogen C gene increases severity of secretagogue-induced pancreatitis in C57BL/6 mice.
Geisz A et al.
Jci Insight, 2019
Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.
Tikhonova EB et al.
Journal of Molecular Biology, 2019
Genetics, Cell Biology, and Pathophysiology of Pancreatitis.
Mayerle J et al.
Gastroenterology, 2019
Etiology and Risk Factors of Acute and Chronic Pancreatitis.
Weiss FU et al.
Visceral Medicine, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.
Jancsó Z et al.
Frontiers in Genetics, 2019
A preclinical model of chronic pancreatitis driven by trypsinogen autoactivation.
Geisz A et al.
Nature Communications, 2018
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Genetic predisposition in pancreatitis.
Gonska T
Current Opinion in Pediatrics, 2018
Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.
Wierbowski SD et al.
Current Opinion in Systems Biology, 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