|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations of the cationic trypsinogen in hereditary pancreatitis.
|
9633818 |
1998 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
|
9322498 |
1997 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
|
8841182 |
1996 |
|
Hereditary pancreatitis
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pancreatitis
|
|
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.
|
31550238 |
2020 |
|
Pancreatitis
|
|
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.
|
20452997 |
2010 |
|
Pancreatitis
|
|
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.
|
18076731 |
2008 |
|
Pancreatitis
|
|
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.
|
17613931 |
2007 |
|
Pancreatitis
|
|
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.
|
17069643 |
2006 |
|
Pancreatitis
|
|
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.
|
16354799 |
2006 |
|
Pancreatitis
|
|
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 |
|
Pancreatitis
|
|
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 |
|
Pancreatitis
|
|
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 |
|
Pancreatitis
|
|
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 |
|
Pancreatitis, Chronic
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our study showing the differential role of p.R122H mutation in various etiologies of CP indicates that this complex disorder is likely influenced by multiple genetic factors as well as environmental factors.
|
29118810 |
2017 |
|
Pancreatitis, Chronic
|
|
0.060 |
GeneticVariation
|
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
|
|
0.060 |
GeneticVariation
|
BEFREE |
The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1) in patients with hereditary pancreatitis (HP; Online Mendelian inheritance in man [OMIM] 167800), a rare variety of chronic pancreatitis.
|
18702646 |
2008 |
|
Pancreatitis, Chronic
|
|
0.060 |
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.
|
17613931 |
2007 |
|
Pancreatitis, Chronic
|
|
0.060 |
GeneticVariation
|
BEFREE |
The two trypsinogen mutations N29I and R122H were identified in a group of 550 patients with chronic pancreatitis of unclear origin.
|
11755505 |
2001 |
|
Pancreatitis, Chronic
|
|
0.060 |
GeneticVariation
|
BEFREE |
The R122H mutation was detected in 1 patient with alcoholic chronic pancreatitis and all 3 affected members of a HP family.
|
11549837 |
2001 |
|
Idiopathic chronic pancreatitis
|
|
0.030 |
GeneticVariation
|
BEFREE |
PRSS1 (R122H) mutations were detected in one (1.3%) patient with ICP and SPINK1 (N34S) mutations were present in one (4.1%) patient with ACP.
|
29641165 |
2017 |
|
Acute pancreatitis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients.
|
22699143 |
2012 |
|
Acute pancreatitis
|
|
0.030 |
GeneticVariation
|
BEFREE |
A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing.
|
21303407 |
2011 |
|
Acute pancreatitis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency, and severity of attacks are highly variable.
|
16354799 |
2006 |
|
Idiopathic chronic pancreatitis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two subjects in the cohort, strengthening that HP-associated PRSS1 mutations are rare in ICP.
|
11260229 |
2001 |