|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis.
|
12014716 |
2002 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We here examined the prevalence of the serine protease inhibitor Kazal type 1 (SPINK1) gene mutations in Japanese patients with CP, and whether the disease course was different between mutation-positive and -negative patients.
|
17238043 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768).
|
16954950 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown an association between the N34S mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene and chronic pancreatitis (CP).
|
15980664 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Serine protease inhibitor kazal type 1 mutations and pancreatitis.
|
15749232 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The N34S mutation of the SPINK1 gene seems to be significantly correlated with alcoholic chronic pancreatitis.
|
22751291 |
2012 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Some TATI mutations predict susceptibility to recurrent or chronic pancreatitis.
|
24583226 |
2014 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 can inhibit up to 20% of trypsin activity, and may constitute one major mechanism to protect the pancreas from autodigestion.In 2000, Witt et al. first recognized the association between mutations in the SPINK1 gene and chronic pancreatitis (CP), but the significance of SPINK1 gene mutation in pancreatitis and its relation to alcohol consumption remains unclear in Japan.
|
16958672 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe the case of a middle-aged male who presented with recurrent pancreatitis in the setting of the serine peptidase inhibitor, Kazal type 1 (SPINK-1) genetic polymorphism.
|
30891392 |
2019 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In India, RAP and CP have been associated with SPINK1 polymorphism.
|
26110235 |
2015 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations, especially those in PRSS1, SPINK1, and CFTR, accounted for the major etiologies in Chinese children with CP or ARP.
|
29173301 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
On multivariate analysis idiopathic etiology (p<0.03), presence of SPINK1 mutation (p=0.01), longer follow-up (p<0.001) were associated with progression to CP.
|
28320629 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the serine protease inhibitor (SPINK1) gene have been associated with all forms of chronic pancreatitis.
|
15910626 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A cohort of 19 families (n=170) with a history of idiopathic CP (ICP) was screened for mutations within the CASR gene; 104 members of that cohort had a mutation (N34S) within the SPINK1 gene and 66 of those were suffering from CP.
|
16497624 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Those preliminary data suggest low prevalence of SPINK1 and PRSS1 mutations in the Chinese population, generally, as well as in CP patients, indicating that these mutations do not contribute to the development of CP.
|
29641165 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Despite these accomplishments, the understanding of the molecular mechanisms through which PRSS1 and SPINK1 mutations cause chronic pancreatitis has remained sketchy.
|
16632094 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genes like SPINK1 and CTRC are associated with CP and should be considered as important contributing factors rather than causative.
|
20510827 |
2010 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the association of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) gene mutations and monocyte chemoattractant protein 1 (MCP-1) -2518A/G polymorphism with acute pancreatitis (AP), acute recurrent pancreatitis (ARP), and chronic pancreatitis (CP), and to associate genetic backgrounds with clinical phenotype in these three conditions.
|
19844201 |
2010 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States.
|
12822871 |
2003 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It arose from recent pancreatitis research that some cases of chronic pancreatitis are associated with mutations of the serine protease inhibitor, Kazal type-1 (SPINK1).
|
15753612 |
2004 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis.
|
22699143 |
2012 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of malignant pancreatic cancer diagnosed in a young patient with chronic pancreatitis who is a SPINK 1 heterozygote gene mutation carrier.
|
27358244 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
CTD_human |
Hereditary chronic pancreatitis.
|
18206817 |
2008 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three genes, the cationic trypsinogen (PRSS1) gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene and the pancreatic secretory trypsin inhibitor (SPINK1) gene, have been identified as risk factors for CP.
|
22109105 |
2012 |