|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Loss of Arg(117)-dependent trypsin inhibition can contribute to the development of hereditary pancreatitis associated with the Arg(117) --> His mutation.
|
11748242 |
2002 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The findings support the notion that enhanced trypsinogen activation in the pancreas is the common initiating step in hereditary pancreatitis, whereas trypsin stabilization plays a role in cases associated with the Arg117-->His mutation.
|
12120225 |
2001 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient.
|
11138965 |
2001 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP.
|
10909845 |
2000 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Recently, an Arg to His mutation at residue 117 of the cationic trypsinogen gene (Arg117His) has been shown to be associated with hereditary pancreatitis (hp).
|
11062709 |
2000 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The findings strongly argue that increased trypsinogen activation in the pancreas is the common initiating step in both forms of HP, whereas trypsin stabilization might also contribute to HP associated with the Arg117 --> His mutation.
|
11097832 |
2000 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hereditary pancreatitis has been shown to be caused by one of two mutations (R117H and N21I) of the cationic trypsinogen gene (PRSS1).
|
10671922 |
2000 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR.
|
10653140 |
2000 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two types of single-point mutation in the cationic trypsinogen gene, which were identical with those reported in white families with hereditary pancreatitis, were observed in separate Japanese families with hereditary pancreatitis: 21Asn (AAC) to Ile (ATC) (N21I) in exon 2 and 117Arg (CGC) to His (CAC) (R117H) in exon 3.
|
9895387 |
1999 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The gene, or at least one of the genes, responsible for hereditary pancreatitis has been mapped to the long arm of chromosome 7 and a missense mutation, an arginine to histidine substitution at residue 117 in the trypsinogen cationic gene (try4) has been shown to segregate with the HP phenotype.
|
10204851 |
1999 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutations Arg(117) --> His and Asn(21) --> Ile in human trypsinogen-I have been recently associated with hereditary pancreatitis (HP).
|
10514442 |
1999 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
R117H was detected in four families with hereditary pancreatitis.
|
10026330 |
1999 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Trypsinogen stabilization by mutation Arg117-->His: a unifying pathomechanism for hereditary pancreatitis?
|
10529393 |
1999 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen gene was found in 5/5 families studied with HP.
|
9557894 |
1998 |
|
Hereditary pancreatitis
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Pancreatitis
|
|
0.040 |
GeneticVariation
|
BEFREE |
The Arg(117) --> His substitution is believed to cause pancreatitis by stabilizing trypsin against autolytic degradation, while the mechanism of action of Asn(21) --> Ile has been unknown.
|
10514442 |
1999 |
|
Pancreatitis
|
|
0.040 |
GeneticVariation
|
BEFREE |
The Arg117-->His substitution is believed to cause pancreatitis by eliminating an essential autolytic cleavage site in trypsin, thereby rendering the protease resistant to inactivation through autolysis.
|
10529393 |
1999 |
|
Pancreatitis
|
|
0.040 |
GeneticVariation
|
BEFREE |
Unlike in patients with hereditary pancreatitis, we found a lack of the R117H mutation in the cationic trypsinogen gene in all patients with tropical pancreatitis from Bangladesh.
|
9788542 |
1998 |
|
Pancreatitis
|
|
0.040 |
GeneticVariation
|
BEFREE |
We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature zymogen activation and pancreatitis.
|
9322498 |
1997 |
|
Pancreatitis, Chronic
|
|
0.010 |
GeneticVariation
|
BEFREE |
The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient.
|
11138965 |
2001 |
|
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation
|
BEFREE |
A relevant contribution of the Arg117His-mutation to pathogenesis of pancreatic cancer might be possible, since also asymptomatic individuals have been reported to carry this mutation and individuals with only mild symptoms may be undiagnosed as hp.
|
11062709 |
2000 |
|
Pancreatic carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A relevant contribution of the Arg117His-mutation to pathogenesis of pancreatic cancer might be possible, since also asymptomatic individuals have been reported to carry this mutation and individuals with only mild symptoms may be undiagnosed as hp.
|
11062709 |
2000 |
|
Adenocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results show that the Arg117His mutation does not contribute to pathogenesis of a substantial fraction of all pancreatic adenocarcinomas.
|
11062709 |
2000 |
|
Primary hyperoxaluria, type I
|
|
0.010 |
GeneticVariation
|
BEFREE |
We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature zymogen activation and pancreatitis.
|
9322498 |
1997 |
|
Acute on chronic pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature zymogen activation and pancreatitis.
|
9322498 |
1997 |