Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Germline mutations and pancreatic cancer risk in chronic pancreatitis.
Wu H et al.
Gut, 2025
Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.
Wang QW et al.
Human Genomics, 2025
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.
Kido J et al.
Journal of Inherited Metabolic Disease, 2024
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
Nationwide survey of hereditary pancreatitis in Japan.
Masamune A et al.
Journal of Gastroenterology, 2018
Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis.
Xiao Y et al.
The Journal of Pediatrics, 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
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.
Hegyi E et al.
Digestive Diseases and Sciences, 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
TATI as a biomarker.
Itkonen O et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
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
The SPINK1 N34S variant is associated with acute pancreatitis.
O'Reilly DA et al.
European Journal of Gastroenterology & Hepatology, 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
Genetic background of pancreatitis.
Hirota M et al.
Postgraduate Medical Journal, 2006
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Masson E et al.
European Journal of Human Genetics : Ejhg, 2006
Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.
Kalinin VN et al.
World Journal of Gastroenterology, 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
Acute pancreatitis in the early stages of pregnancy associated with a PSTI gene mutation.
Inoue N et al.
Pancreas, 2004
Clinical characterization of patients with idiopathic chronic pancreatitis and SPINK1 Mutations.
Schneider A et al.
Scandinavian Journal of Gastroenterology, 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
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
The maize Single myb histone 1 gene, Smh1, belongs to a novel gene family and encodes a protein that binds telomere DNA repeats in vitro.
Marian CO et al.
Plant Physiology, 2003
Genetic testing in chronic pancreatitis.
Tazelaar JP et al.
Expert Review of Molecular Diagnostics, 2003
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
Perri F et al.
European Journal of Human Genetics : Ejhg, 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
The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.
Threadgold J et al.
Gut, 2002
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.
Drenth JP et al.
Gut, 2002
Genetic aspects of chronic pancreatitis: insights into aetiopathogenesis and clinical implications.
Truninger K et al.
Swiss Medical Weekly, 2001
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
[Genetic testing for acute or chronic pancreatitis].
Maire F
Gastroenterologie Clinique Et Biologique, 0