|
Pancreatitis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Mice that express PRSS1<sup>R122H</sup> developed more severe pancreatitis after ethanol feeding or a high-fat diet than mice that express PRSS1 or control mice.
|
31419436 |
2020 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Injection of cerulein for 2 days induced progressive pancreatitis in T7K24R mice, but not in control mice, with typical features of chronic pancreatitis CONCLUSIONS: Introduction of a mutation into mice that is analogous to the p.K23R mutation in PRSS1 increases pancreatic activation of trypsinogen during secretagogue-induced pancreatitis.
|
31751559 |
2020 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Effects of PRSS1-PRSS2 rs10273639, CLDN2 rs7057398 and MORC4 rs12688220 polymorphisms on individual susceptibility to pancreatitis: A meta-analysis.
|
31163246 |
2020 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Children with PD were less likely to have PRSS1 mutations (10% vs. 34%; P<0.01) or a family history of pancreatitis (P<0.05), and more likely to have hypertriglyceridemia (11% vs. 3%; P=0.03).
|
29864067 |
2019 |
|
Pancreatitis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
PRSS1 is exclusively expressed in the exocrine pancreas and was previously associated with non-CF pancreatitis with functional characterization demonstrating impact on PRSS1 gene expression.
|
30807572 |
2019 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Trypsin-encoding <i>PRSS1-PRSS2</i> variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report.
|
30467200 |
2019 |
|
Pancreatitis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
According to the <i>Cathepsin B</i> hypothesis, mutated CTSB can lead to premature intracellular activation of trypsinogen, a key regulatory mechanism in pancreatitis.
|
31592339 |
2019 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms at <i>PRSS1-PRSS2</i> and <i>MORC4</i> are not associated with the risk or severity of post-ERCP pancreatitis.
|
30524475 |
2018 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis.
|
28502372 |
2017 |
|
Pancreatitis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to describe the prevalence, characteristics, and outcomes of children with acute recurrent (ARP) or chronic (CP) pancreatitis with or without mutations in PRSS1, CFTR or SPINK1.
|
26692446 |
2016 |
|
Pancreatitis
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, to date, the histologic findings of PRSS1 pancreatitis have not been well described.
|
24525505 |
2014 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
In conclusion, PRSS1 gene was significantly associated with total pancreatitis disease, both totally and separately.
|
23801884 |
2013 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetically determined pancreatitis is associated with mutations in the PRSS1,SPINK1 and CFTR genes.
|
23751316 |
2013 |
|
Pancreatitis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 intron mutations in patients with pancreatic cancer and chronic pancreatitis.
|
22109105 |
2012 |
|
Pancreatitis
|
0.700 |
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
|
0.700 |
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
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family.
|
21952138 |
2011 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS1 variant as pancreatitis associated, in large part owing to its intimate proximity to arginine-122, the residue affected by the disease causing p.R122H mutation.
|
20452997 |
2010 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
|
19951905 |
2010 |
|
Pancreatitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis.
|
20950468 |
2010 |