Associated Papers
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
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
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
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
Hamada S et al.
Human Mutation, 2022
The histopathology of SPINK1-associated chronic pancreatitis.
Jones TE et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.
Wu H et al.
Genes, 2017
Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
Werlin S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2015
Do genetic variants in the SPINK1 gene affect the level of serum PSTI?
Kume K et al.
Journal of Gastroenterology, 2012
Genetics and pathogenesis of chronic pancreatitis: the 2012 update.
Chen JM et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Functional analysis of eight missense mutations in the SPINK1 gene.
Boulling A et al.
Pancreas, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Defective binding of SPINK1 variants is an uncommon mechanism for impaired trypsin inhibition in chronic pancreatitis.
Szabó A et al.
The Journal of Biological Chemistry, 0