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rs111033565
|
|
|
0.100 |
GeneticVariation |
BEFREE |
By comparing PRSS1R122H mice with PRSS1WT mice as well as enzymatically inactivated Dead-PRSS1R122H mice, we unraveled that increased trypsin activity is the mechanism for R122H mutation to sensitize mice to the development of pancreatitis.
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31550238 |
2020 |
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rs111033565
|
|
|
0.100 |
GeneticVariation |
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.
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20452997 |
2010 |
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rs111033565
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing.
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18076731 |
2008 |
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rs111033565
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0.100 |
GeneticVariation |
BEFREE |
Four out of five (80%) male individuals with the R122H mutation also had clinical pancreatitis, whereas none of the three mutation-positive females had any signs or symptoms of chronic pancreatitis.
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17613931 |
2007 |
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rs111033565
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0.100 |
GeneticVariation |
BEFREE |
The R122H transgenic mouse failed to develop a spontaneous pancreatitis but a repeatedly provoked cerulein-induced pancreatitis led to a slightly more severe pancreatitis.
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17069643 |
2006 |
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rs111033565
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0.100 |
GeneticVariation |
BEFREE |
Two subjects from HP families (including a 93 year old subject with PRSS1 R122H without pancreatitis), one with chronic pancreatitis and one with a normal pancreas, were studied.
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16354799 |
2006 |
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rs111033565
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0.100 |
GeneticVariation |
BEFREE |
Remarkably, however, E79K trypsin activated anionic trypsinogen two-fold better than wild-type cationic trypsin did, while the common pancreatitis-associated mutants R122H or N29I had no such effect.
|
14695529 |
2004 |
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rs111033565
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0.100 |
GeneticVariation |
BEFREE |
It has been hypothesised that one of these mutations, the R122H mutation causes pancreatitis by altering a trypsin recognition site so preventing deactivation of trypsin within the pancreas and prolonging its action, resulting in autodigestion.
|
12508340 |
2003 |
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rs111033565
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Since the identification in 1996 of a "gain of function" missense mutation, R122H, in the cationic trypsinogen gene (PRSS1) as a cause of hereditary pancreatitis, continued screening of this gene in both hereditary and sporadic pancreatitis has found more disease-associated missense mutations than expected.
|
11702203 |
2001 |
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rs111033565
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The 'self-destruct' model proposed for the R122H mutation is discussed in connection with the existing theory of pancreatitis, and the basic biochemistry and physiology of trypsinogen, with particular reference to R122 as the primary autolysis site of the cationic trypsinogen.
|
10909845 |
2000 |