Hereditary pancreatitis
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
|
28502372 |
2017 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PRSS1 cause hereditary pancreatitis by altering cleavage of regulatory nick sites by chymotrypsin C (CTRC) resulting in reduced trypsinogen degradation and increased autoactivation.
|
27129265 |
2016 |
Hereditary pancreatitis
|
0.750 |
SusceptibilityMutation
|
disease |
CLINVAR |
The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.
|
25569187 |
2015 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Hereditary pancreatitis is caused by mutations in human cationic trypsinogen (PRSS1) which lead to increased autoactivation by altering chymotrypsin C (CTRC)-dependent trypsinogen activation and degradation.
|
23455445 |
2014 |
Hereditary pancreatitis
|
0.750 |
SusceptibilityMutation
|
disease |
CLINVAR |
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
|
22427236 |
2013 |
Hereditary pancreatitis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
|
22942235 |
2013 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
|
22942235 |
2013 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
ORPHANET |
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
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
|
22942235 |
2013 |
Hereditary pancreatitis
|
0.750 |
SusceptibilityMutation
|
disease |
CLINVAR |
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
|
22942235 |
2013 |
Hereditary pancreatitis
|
0.750 |
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
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
|
22427236 |
2013 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.
|
22580415 |
2013 |
Hereditary pancreatitis
|
0.750 |
Biomarker
|
disease |
BEFREE |
These observations indicate that hereditary pancreatitis is caused by CTRC-dependent dysregulation of cationic trypsinogen autoactivation, which results in elevated trypsin levels in the pancreas.
|
22539344 |
2012 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
ORPHANET |
These observations indicate that hereditary pancreatitis is caused by CTRC-dependent dysregulation of cationic trypsinogen autoactivation, which results in elevated trypsin levels in the pancreas.
|
22539344 |
2012 |
Hereditary pancreatitis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
"Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for ""protective"" (PRSS2) and ""destructive"" (CTRC) genetic factors."
|
20625975 |
2011 |
Hereditary pancreatitis
|
0.750 |
SusceptibilityMutation
|
disease |
CLINVAR |
Chronic pancreatitis: genetics and pathogenesis.
|
19453252 |
2009 |
Hereditary pancreatitis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis.
|
18059268 |
2008 |
Hereditary pancreatitis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
|
18172691 |
2008 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
ORPHANET |
Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis.
|
18059268 |
2008 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
|
18172691 |
2008 |
Hereditary pancreatitis
|
0.750 |
Biomarker
|
disease |
BEFREE |
Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis.
|
18059268 |
2008 |
Hereditary pancreatitis
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis.
|
18059268 |
2008 |
Hereditary pancreatitis
|
0.750 |
SusceptibilityMutation
|
disease |
CLINVAR |
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
|
18172691 |
2008 |
Hereditary pancreatitis
|
0.750 |
SusceptibilityMutation
|
disease |
CLINVAR |
Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis.
|
18059268 |
2008 |