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
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
Genetic aspects of tropical calcific pancreatitis.
Witt H et al.
Reviews in Endocrine & Metabolic Disorders, 2008
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
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
SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh.
Schneider A et al.
Gastroenterology, 2002
Two SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis.
Frossard JL et al.
Case Reports in Gastroenterology, 0
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