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
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
A Hypothesized Mechanism for Chronic Pancreatitis Caused by the N34S Mutation of Serine Protease Inhibitor Kazal-Type 1 Based on Conformational Studies.
Kulke M et al.
Journal of Inflammation Research, 2021
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
In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing.
Wu H et al.
Gut, 2017
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
Frequency of SPINK1 N34S mutation in acute and recurrent acute pancreatitis.
Rai P et al.
Journal of Hepato-biliary-pancreatic Sciences, 2014
Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis.
Beer S et al.
Gut, 2014
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Rosendahl J et al.
Gut, 2013
Molecular dynamics simulations reveal structural instability of human trypsin inhibitor upon D50E and Y54H mutations.
Mokmak W et al.
Journal of Molecular Modeling, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
Masson E et al.
Plos One, 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
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
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Keiles S et al.
Pancreas, 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
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
Bernardino AL et al.
Jop : Journal of the Pancreas, 2003
Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.
Gomez-Lira M et al.
European Journal of Human Genetics : Ejhg, 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
Molecular alterations in chronic pancreatitis.
Kayed H et al.
Journal of Hepato-biliary-pancreatic Surgery, 2002
Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.
McConnell RS et al.
Journal of Medical Genetics, 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