Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis.
|
28984793 |
2018 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 and SPINK1 mutations serve as genetic background for HP in Japan.
|
28861620 |
2018 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update.
|
28546062 |
2017 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.
|
28556356 |
2017 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Analysis of protein-coding genetic variation in 60,706 humans.
|
27535533 |
2016 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis.
|
26632706 |
2015 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
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.
|
23951356 |
2013 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using recombinant normal sequence PSTI/tumor-associated trypsin inhibitor (TATI), a variant associated with familial pancreatitis (N34S), an active site-inactivated variant (R18/V19), and immunoneutralization and RNA interference-mediated knockdown techniques, we investigated the actions of PSTI/TATI on cell migration (wounding monolayers), collagen invasion (gel invasion assays), and proliferation (Alamar blue) on 253J, RT4, and HT1376 human bladder carcinoma cell lines.
|
23698120 |
2013 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation.
|
23741238 |
2013 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients.
|
23017645 |
2013 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Four patients had hereditary pancreatitis (three with confirmed N34S mutation in the SPINK1 gene), one patient had chronic pancreatitis of unknown etiology, and one patient with annular pancreas developed obstructive chronic pancreatitis.
|
24210198 |
2013 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.
|
22572128 |
2012 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.
|
19888199 |
2010 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The occurrence of exocrine and endocrine insufficiency is higher among patients with HP than in patients with SPINK1-CFTR mutations and tIP, and more HP families develop pancreatic cancer.
|
20502448 |
2010 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 and SPINK1 mutations were not rare in Korean patients with idiopathic and familial pancreatitis.
|
18852684 |
2009 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.
|
18978175 |
2009 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine for the first time the significance of PRSS1, SPINK1 mutations and genetic variants of AAT in a group of Spanish patients with CP.
|
19657220 |
2009 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.
|
19299380 |
2009 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.
|
18414673 |
2008 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The SPINK1 N34S variant is associated with acute pancreatitis.
|
18617776 |
2008 |
Hereditary pancreatitis
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
The results provide the first clear experimental demonstration that alterations that markedly reduce SPINK1 expression are associated with classic hereditary pancreatitis.
|
17274009 |
2007 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.
|
17466744 |
2007 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to report on the incidence of PRSS1 and SPINK1 mutations in a Finnish family with HP and to correlate the findings to the clinical symptoms.
|
17613931 |
2007 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
|
17568390 |
2007 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.
|
17525091 |
2007 |