Associated Papers
Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.
Fan X et al.
Genome Biology, 2025
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
Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.
Andersen LVB et al.
Breast Cancer Research : Bcr, 2023
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
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.
Palermo JJ et al.
Pancreas, 2016
Functional significance of SPINK1 promoter variants in chronic pancreatitis.
Derikx MH et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015
Genetics of acute and chronic pancreatitis: An update.
Ravi Kanth V et al.
World Journal of Gastrointestinal Pathophysiology, 2014
RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.
Sabarinathan R et al.
Human Mutation, 2013
Genetics and pathogenesis of chronic pancreatitis: the 2012 update.
Chen JM et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Assessing the pathological relevance of SPINK1 promoter variants.
Boulling A et al.
European Journal of Human Genetics : Ejhg, 2011
[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
Pathophysiology of SPINK mutations in pancreatic development and disease.
Liddle RA
Endocrinology and Metabolism Clinics of North America, 2006
Expression of mutated cationic trypsinogen reduces cellular viability in AR4-2J cells.
Gaiser S et al.
Biochemical and Biophysical Research Communications, 2005
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
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 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