Associated Papers
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
The roles of mutated SPINK1 gene in prostate cancer cells.
Pan X et al.
Mutagenesis, 2022
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
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
Genetics of acute and chronic pancreatitis: An update.
Ravi Kanth V et al.
World Journal of Gastrointestinal Pathophysiology, 2014
PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis.
Pelaez-Luna M et al.
World Journal of Gastroenterology, 2014
Frequency of SPINK1 N34S mutation in acute and recurrent acute pancreatitis.
Rai P et al.
Journal of Hepato-biliary-pancreatic Sciences, 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
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
Hereditary chronic pancreatitis.
Teich N et al.
Best Practice & Research. Clinical Gastroenterology, 2008
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
Germline mutations and gene polymorphism associated with human pancreatitis.
Weiss FU et al.
Endocrinology and Metabolism Clinics of North America, 2006
Pathophysiology of SPINK mutations in pancreatic development and disease.
Liddle RA
Endocrinology and Metabolism Clinics of North America, 2006
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 aspects of chronic pancreatitis.
Teich N et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2004
Genetic testing in chronic pancreatitis.
Tazelaar JP et al.
Expert Review of Molecular Diagnostics, 2003
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.
Drenth JP et al.
Gut, 2002
SPINK1 mutations are associated with multiple phenotypes.
Pfützer RH et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2001
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.
Pfützer RH et al.
Gastroenterology, 2000
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