Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype.
|
8841182 |
1996 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nine out of 48 (19%) patients referred to a pancreatic clinic with a presumed diagnosis of idiopathic chronic pancreatitis have been shown to have mutations in the cationic trypsinogen gene (PRSSI), consistent with a previously unsuspected diagnosis of hereditary pancreatitis.
|
10406366 |
1999 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.
|
23601753 |
2013 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The cationic trypsinogen gene (Try4) is responsible for hereditary pancreatitis.
|
12120234 |
2001 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
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 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
|
17568390 |
2007 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype.
|
8841182 |
1996 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
|
9322498 |
1997 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The natural history of hereditary pancreatitis: a national series.
|
18755888 |
2009 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the cationic trypsinogen in hereditary pancreatitis.
|
9633818 |
1998 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cationic trypsinogen gene are acknowledged as a risk factor for pancreatic cancer in patients with hereditary pancreatitis.
|
15084977 |
2004 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We investigated 78 patients with hereditary and familial pancreatitis and 62 patients with sporadic pancreatitis that were tested negative for cationic trypsinogen gene mutations, and 73 controls.
|
15316224 |
2004 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PRSS1 gene explain most occurrences of hereditary pancreatitis (HP) but many HP families have no PRSS1 mutation.
|
11950815 |
2002 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
An overview of hereditary pancreatitis.
|
21907651 |
2012 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One hundred and fifteen of 150 kindreds fulfilled the strict definition of an HP family, and 60 (52%) had PRSS1 mutations.
|
12120221 |
2001 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
They have received renewed attention after the identification of mutations in the cationic trypsinogen gene as being associated with hereditary pancreatitis.
|
10881933 |
2000 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary pancreatitis (HP) is a form of recurrent acute pancreatitis (AP) mediated by mutations in cationic trypsinogen (PRSS1).
|
18090235 |
2007 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.
|
11073545 |
2000 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PRSS1 and the SPINK1 genes have variably been associated with alcohol-related, idiopathic and hereditary chronic pancreatitis (CP).
|
19657220 |
2009 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
|
16791840 |
2006 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cationic trypsinogen gene on chromosome 7 are known to cause HP.
|
9853929 |
1998 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is thought that inappropriate activation of trypsinogen causes pancreatitis, and indeed in cases of hereditary pancreatitis mutations of cationic trypsinogen (PRSS1) have been described.
|
11950817 |
2002 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated.
|
27129265 |
2016 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is well documented that mutations in the cationic trypsinogen (PRSS1) gene can cause hereditary pancreatitis.
|
17003641 |
2006 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, cathepsin B- catalyzed activation of recombinant human cationic trypsinogen with hereditary pancreatitis-associated mutations N29I, N29T, or R122H were characterized.
|
11932257 |
2002 |