Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
|
30420730 |
2018 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
|
24458023 |
2014 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.
|
24002981 |
2013 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
We found that in the presence of CTRC, trypsinogen mutants associated with classic hereditary pancreatitis (N29I, N29T, V39A, R122C, and R122H) autoactivated at increased rates and reached markedly higher active trypsin levels compared with wild-type cationic trypsinogen.
|
22539344 |
2012 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Chronic pancreatitis: genetics and pathogenesis.
|
19453252 |
2009 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.
|
19454815 |
2009 |
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
BEFREE |
The first mutation was detected at the R122 autocleavage site of the protein (R122H) and subsequently two other mutations in this region, R122C and V123M, were described that resulted in a similar phenotype of hereditary pancreatitis.
|
18511571 |
2008 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis.
|
18272034 |
2008 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Hereditary chronic pancreatitis.
|
17204147 |
2007 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
|
17568390 |
2007 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.
|
16954950 |
2006 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
|
16791840 |
2006 |
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 |
CausalMutation
|
CLINVAR |
Here we report a family with hereditary pancreatitis that carries a novel PRSS1 mutation (R122C).
|
11719509 |
2002 |
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 |
CausalMutation
|
CLINVAR |
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
|
11788572 |
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 |
Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen.
|
11719509 |
2002 |
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.
|
11734061 |
2001 |
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 |