|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
CLINVAR |
One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.
|
25383785 |
2015 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
BEFREE |
One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.
|
25383785 |
2015 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
CLINVAR |
We conclude that D19A, D22G, K23R and K23_I24insIDK form a mechanistically distinct subset of hereditary pancreatitis-associated mutations that exert their effect primarily through direct stimulation of autoactivation, independently of CTRC.
|
23601753 |
2013 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
CLINVAR |
Expression of mutated cationic trypsinogen reduces cellular viability in AR4-2J cells.
|
16036133 |
2005 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
|
15776435 |
2005 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
|
14695529 |
2004 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.
|
11866271 |
2002 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
|
11788572 |
2002 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
BEFREE |
Several missense mutations, including R122H, N29I, K23R, A16V and D22G, in the cationic trypsinogen gene (PRSS1), have been associated with certain forms of hereditary pancreatitis (HP).
|
11260229 |
2001 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
CLINVAR |
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.
|
10930381 |
2000 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
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
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.
|
10930381 |
2000 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.
|
10381903 |
1999 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
|
10204851 |
1999 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations of the cationic trypsinogen in hereditary pancreatitis.
|
9633818 |
1998 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
|
9322498 |
1997 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
|
8841182 |
1996 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pancreatitis
|
|
0.040 |
GeneticVariation
|
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
|
|
0.040 |
GeneticVariation
|
BEFREE |
Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis.
|
17148697 |
2006 |
|
Pancreatitis
|
|
0.040 |
GeneticVariation
|
BEFREE |
The activation peptides of the trypsinogen variants D22G and K23R could be released at a higher rate than in wild-type trypsinogen, resulting in increased amounts of trypsin in the pancreas, which could initiate pancreatitis.
|
10930381 |
2000 |
|
Pancreatitis
|
|
0.040 |
GeneticVariation
|
BEFREE |
Possible predisposition to pancreatitis by additional DNA variants in the gene, such as the A16V signal peptide cleavage site mutation and the K23R activation peptide cleavage site mutation is suspected, but not proven.
|
10909845 |
2000 |
|
Acute recurrent pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.
|
25383785 |
2015 |