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
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
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
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 Tabagism and N34S and P55S Mutations of Serine Peptidase Inhibitor, Kazal Type 1 (SPINK1) and R254W Mutation of Chymotrypsin C (CTRC) in Patients With Chronic Pancreatitis and Controls.
da Costa MZ et al.
Pancreas, 2016
Genetics of acute and chronic pancreatitis: An update.
Ravi Kanth V et al.
World Journal of Gastrointestinal Pathophysiology, 2014
Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.
Hamoir C et al.
Digestion, 2013
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
[Effect of pancreatic secretory trypsin gene mutations on the development of chronic pancreatitis].
Kucheriavyĭ IuA et al.
Eksperimental'naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology, 2011
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
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
The SPINK1 N34S variant is associated with acute pancreatitis.
O'Reilly DA et al.
European Journal of Gastroenterology & Hepatology, 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
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
Király O et al.
Human Mutation, 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
Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.
Chandak GR et al.
Gut, 2004
Genetic testing in chronic pancreatitis.
Tazelaar JP et al.
Expert Review of Molecular Diagnostics, 2003
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
Berg J et al.
Journal of Medical Genetics, 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
Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations.
Bhatia E et al.
Gastroenterology, 2002
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.
Drenth JP et al.
Gut, 2002
Do point mutations in the PSTI (SPINK1) gene truly contribute to the pathogenesis of chronic pancreatitis?
Shimosegawa T
Journal of Gastroenterology, 2001
Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis.
Chen JM et al.
Gastroenterology, 2001
Gene mutations in children with chronic pancreatitis.
Witt H
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
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Witt H et al.
Nature Genetics, 2000
Abstracts of the 32nd european pancreatic club meeting
Folsch UR et al.
Digestion, 2000