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
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
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
The impact of physiological stress conditions on protein structure and trypsin inhibition of serine protease inhibitor Kazal type 1 (SPINK1) and its N34S variant.
Buchholz I et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
Zou WB et al.
Clinical and Translational Gastroenterology, 2018
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
Genetics of acute and chronic pancreatitis: An update.
Ravi Kanth V et al.
World Journal of Gastrointestinal Pathophysiology, 2014
TATI as a biomarker.
Itkonen O et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Molecular dynamics simulations reveal structural instability of human trypsin inhibitor upon D50E and Y54H mutations.
Mokmak W et al.
Journal of Molecular Modeling, 2013
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
Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis?
Jøergensen MT et al.
European Journal of Gastroenterology & Hepatology, 2012
Functional analysis of eight missense mutations in the SPINK1 gene.
Boulling A et al.
Pancreas, 2012
Analyzing effects of naturally occurring missense mutations.
Zhang Z et al.
Computational and Mathematical Methods in Medicine, 2012
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.
Kereszturi E et al.
Gut, 2009
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.
Király O et al.
Gut, 2007
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
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.
Kume K et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2005
Serine protease inhibitor Kazal type 1 mutations and pancreatitis.
Schneider A
Gastroenterology Clinics of North America, 2004
Genetic testing in chronic pancreatitis.
Tazelaar JP et al.
Expert Review of Molecular Diagnostics, 2003
From acute to chronic pancreatitis: the role of mutations in the pancreatic secretory trypsin inhibitor gene.
Hirota M et al.
Jop : Journal of the Pancreas, 2003
Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan.
Kuwata K et al.
Journal of Gastroenterology, 2003
Genetic mutations in exons 3 and 4 of the pancreatic secretory trypsin inhibitor in patients with pancreatitis.
Kuwata K et al.
Journal of Gastroenterology, 2001
Do point mutations in the PSTI (SPINK1) gene truly contribute to the pathogenesis of chronic pancreatitis?
Shimosegawa T
Journal of Gastroenterology, 2001
Hereditary pancreatitis in Japan: a review of pancreatitis-associated gene mutations.
Nishimori I et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2001
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