Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
We provide evidence that rare pathogenic variants in the SPINK1, PRSS1, CTRC, and CFTR genes significantly influence the age of onset and clinical outcomes of CP.
|
30420730 |
2018 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies in adults/adolescent patients with chronic pancreatitis (CP) identified chymotrypsinogen C (CTRC) genetic variants but their association with CP risk has been difficult to replicate.
|
28968289 |
2017 |
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02).
|
28502372 |
2017 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that CTRC variants p.R29Q, p.G214R, and p.S239C are risk factors for chronic pancreatitis.
|
26013824 |
2015 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.
|
25636364 |
2015 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), serine protease inhibitor Kazal type 1 (SPINK1), and chymotrypsin C (CTRC) genes are associated with an elevated risk for chronic pancreatitis, which is a known risk factor for pancreatic cancer (PC).
|
25003218 |
2014 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, chymotrypsin C (CTRC) variants that diminish its activity or secretion were found to predict susceptibility to chronic pancreatitis (CP).
|
22580415 |
2013 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variants in CTRC increase the risk for chronic pancreatitis.
|
22942235 |
2013 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The CTRC-deleting complex rearrangement probably resulted from LINE-1-mediated Alu insertion, which represents a novel mutational mechanism causing chronic pancreatitis.
|
23721890 |
2013 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the chymotrypsin C (CTRC) gene encoding the digestive enzyme CTRC have been shown to increase the risk of chronic pancreatitis in European and Asian populations.
|
21631589 |
2011 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two CTRC alterations, p.R254W and p.K247_R254del, are significantly associated with idiopathic as well as alcohol-related CP.
|
21525753 |
2010 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the chymotrypsinogen C (CTRC) gene have been linked to the development of chronic pancreatitis.
|
19951900 |
2010 |
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genes like SPINK1 and CTRC are associated with CP and should be considered as important contributing factors rather than causative.
|
20510827 |
2010 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel CTRC gene variations and haplotypes are associated with CP in a Chinese population.
|
19407484 |
2009 |
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Identification of gain-of-function missense and copy number mutations in the cationic trypsinogen gene (PRSS1) and loss-of-function variants in both the pancreatic secretory trypsin inhibitor (SPINK1) and chymotrypsinogen C (CTRC) genes has firmly established the pivotal role of prematurely activated trypsin within the pancreas in the etiology of CP.
|
19453252 |
2009 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
|
18059268 |
2008 |
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
CTD_human |
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
|
18059268 |
2008 |
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in chymotrypsin C have been reported to predispose to the development of chronic pancreatitis, especially in those who are prone to alcohol abuse.
|
19122498 |
2008 |
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|