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
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
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
TATI as a biomarker.
Itkonen O et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach.
Hon LS et al.
Human Mutation, 2009
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Boulling A et al.
European Journal of Human Genetics : Ejhg, 2007
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
Király O et al.
Human Mutation, 2007
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Keiles S et al.
Pancreas, 2006
Gene symbol: CYP17A1. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.
Hong T et al.
Human Genetics, 2003
Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.
Deybach JC et al.
Human Genetics, 2003
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
Bernardino AL et al.
Jop : Journal of the Pancreas, 2003
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
Gaitch N et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0