Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest protein structural changes in the N34S variant as an impairment of SPINK1 and environmental pH shift as a trigger that could play a role in disease progression of pancreatitis.
|
31525466 |
2020 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 related pancreatitis is associated with earlier onset and pancreatic insufficiencies. p.N34S SPINK1 may well be associated with cancer.
|
31628023 |
2019 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additionally, we discuss the mechanism behind SPINK-1 polymorphisms in the development of pancreatitis as well as the role of genetic screening for the polymorphism in the general population.
|
30891392 |
2019 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cinacalcet sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation.
|
31391146 |
2019 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The results indicated that SPINK1 gene, particularly the N34S mutation, has a genetic association with the development of pancreatitis.
|
28984793 |
2018 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
While the substantially elevated risk of pancreatic cancer in patients with PRSS1 gene mutations with chronic pancreatitis has been well established, little is known about the risk of pancreatic cancer in SPINK 1 gene mutation carriers with pancreatitis.
|
27358244 |
2017 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
However, because SPINK1 is the major physiological inhibitor of trypsin, inhibition of SPINK1 may increase the risk of pancreatitis.
|
26656134 |
2016 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two hundred sixty patients were screened for the most frequent mutations in major pancreatitis-associated genes, such as cationic trypsinogen/serine protease gene (PRSS1), serine protease inhibitor, Kazal type 1 gene (SPINK1), and cystic fibrosis transmembrane conductance regulator gene (CFTR).
|
27673710 |
2016 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Crossing of X-SPINK1 mice with Spink3<sup>+/-</sup> mice rescued perinatal lethality, but the resulting Spink3<sup>-/-</sup>;XX<sup>SPINK1</sup> mice developed spontaneous pancreatitis characterized by chronic inflammation and fibrosis.
|
27845447 |
2016 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Other genetic defects observed in the pathogenic mechanism of pancreatitis include mutations in the genes encoding SPINK1, CTRC, and CPA1.
|
26376395 |
2015 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
It has been established that mutations in the genes related to the activation and inactivation of trypsin(ogen) such as PRSS1, serine protease inhibitor Kazal type 1 (SPINK1) and chymotrypsin C (CTRC) genes are associated with pancreatitis.
|
24522117 |
2014 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significant risk of pancreatitis both when considered individually and with a concurrent SPINK1 mutation, suggesting the role of other genetic and environmental factors.
|
24451227 |
2014 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
It may be possible that this distorted protein structure may be recognized as "non-native" by members of the chaperone family; it may be further retained and targeted for degradation, leading to SPINK1 secretion reduction and subsequently pancreatitis in patients as Király et al.(Gut 56:1433, 2007) proposed.
|
22955423 |
2013 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetically determined pancreatitis is associated with mutations in the PRSS1,SPINK1 and CFTR genes.
|
23751316 |
2013 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The frequency of PD was higher in patients with CFTR gene-associated pancreatitis as compared with those with idiopathic and alcoholic pancreatitis (P<0.0001) and with those with SPINK1 and PRSS1 gene-associated pancreatitis (P<0.02).
|
22158025 |
2012 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk.
|
23143602 |
2012 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk.
|
23143602 |
2012 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the serine protease inhibitor, Kazal type-1 (SPINK-1) gene have been reported to lower the threshold for pancreatitis in the presence of other genetic or environmental factors.
|
21375584 |
2011 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Tropical pancreatitis associates with SPINK1 and/or CFTR gene mutations in approximately 50% of patients, similar to the frequency in idiopathic chronic pancreatitis.
|
21844753 |
2011 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
We speculate that Trypsin5, the trypsinogen5 gene product, leaking from dead acinar cells triggers a chain reaction leading to lethal pancreatitis in Irf2(-/-) mice because it is resistant to a major endogenous trypsin inhibitor, Spink3.
|
22042864 |
2011 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since then, there have been many reports on association between mutations in the SPINK1 genes and patients with pancreatitis.
|
22041280 |
2011 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether sequence variants in the gene encoding the pancreatic secretory trypsin inhibitor SPINK1 further increase the risk of pancreatitis in these patients.
|
20977904 |
2011 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hence, SPINK1 is thought to be a candidate gene for pancreatitis.
|
21323990 |
2011 |
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Previous studies have shown an association of variants in trypsin-associated genes, such as cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type-1 (SPINK1) with pancreatitis.
|
21303407 |
2011 |
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No further SPINK1 p.N34S (n=4) mutations were detected but the probability of either CTRC or SPINK1 mutations in pHPT patients with pancreatitis is high (P<0.05).
|
20625975 |
2011 |