Associated Papers
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
Toward a clinical diagnostic pipeline for SPINK1 intronic variants.
Tang XY et al.
Human Genomics, 2019
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
In silico prioritization and further functional characterization of SPINK1 intronic variants.
Zou WB et al.
Human Genomics, 2017
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis.
Zou WB et al.
Gut, 2016
TATI as a biomarker.
Itkonen O et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
Assessing the pathological relevance of SPINK1 promoter variants.
Boulling A et al.
European Journal of Human Genetics : Ejhg, 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
Inherited susceptibility to common cancers.
Foulkes WD
The New England Journal of Medicine, 2008
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
Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.
Kalinin VN et al.
World Journal of Gastroenterology, 2006
BRAF mutation and gene methylation frequencies of colorectal tumours with microsatellite instability increase markedly with patient age.
Iacopetta B et al.
Gut, 2006
[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.
Kume K et al.
Gut, 2006
Cationic trypsinogen mutations and pancreatitis.
Howes N et al.
Gastroenterology Clinics of North America, 2004
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
Le Maréchal C et al.
Human Mutation, 2004