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 |
GeneticVariation
|
disease |
BEFREE |
We investigated the prevalence of SPINK1 (PSTI) mutations in familial pancreatitis, idiopathic chronic pancreatitis, and controls.
|
10982753 |
2000 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The coding regions of PRSS1 and SPINK1 genes were sequenced in 290 controls and 198 patients, of whom 120 were diagnosed as idiopathic (ICP), 41 as alcoholic (ACP), and 37 as hereditary pancreatitis (HP).
|
15082592 |
2004 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
|
14722925 |
2004 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1).
|
11729110 |
2001 |
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 |
GeneticVariation
|
disease |
BEFREE |
The N34S mutation of SPINK1 was found in two index patients with a family history of HP.
|
11866271 |
2002 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genetic counseling for hereditary pancreatitis--the role of molecular genetics testing for the cationic trypsinogen gene, cystic fibrosis and serine protease inhibitor Kazal type 1.
|
15528021 |
2004 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
BEFREE |
This finding casts new light on the possible role of PSTI as a cause of hereditary pancreatitis.
|
16254194 |
2006 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Further prospective, multicenter trials investigating secondary screening for pancreatic cancer in hereditary pancreatitis are necessary to clarify the role of SPINK1 mutations in the development of pancreatic cancer.
|
15084977 |
2004 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
BEFREE |
From analyses of hereditary pancreatitis and the phenotype of PSTI/SPINK1 (Spink3) knockout mice, we showed that the imbalance of trypsin activation and its inhibition by PSTI/SPINK1 would lead to the development of pancreatitis.
|
17148697 |
2006 |
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 |
AlteredExpression
|
disease |
BEFREE |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
|
10835640 |
2000 |
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 |
CausalMutation
|
disease |
CLINVAR |
[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.
|
16849362 |
2006 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.
|
17466744 |
2007 |
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 |
SusceptibilityMutation
|
disease |
CLINVAR |
SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis.
|
28984793 |
2018 |
Hereditary pancreatitis
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
|
17568390 |
2007 |