|
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 |
|
|
|