|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Having a variant from CFTR, SPINK1 or PRSS1, was associated with the faster progression from AP to CP over time (p < 0.05).
|
31088717 |
2019 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Children with pathogenic PRSS1 variants progressed more rapidly to CP compared to children without PRSS1 variants (median time to CP: 2.52 vs 4.48 years; P = 0.003).
|
31136562 |
2019 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous studies revealed somatic mutations of the cationic trypsinogen gene (PRSS1) in patients with chronic pancreatitis and pancreatic cancer.
|
31521106 |
2019 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we analysed whether common variants in the CLDN2-MORC4 and the PRSS1-PRSS2 locus that increase recurrent AP and CP risk associate with AP.
|
29884332 |
2018 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Those preliminary data suggest low prevalence of SPINK1 and PRSS1 mutations in the Chinese population, generally, as well as in CP patients, indicating that these mutations do not contribute to the development of CP.
|
29641165 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis.
|
28650851 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations, especially those in PRSS1, SPINK1, and CFTR, accounted for the major etiologies in Chinese children with CP or ARP.
|
29173301 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
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 |
While the substantially elevated risk of pancreatic cancer in patients with PRSS1 gene mutations with chronic pancreatitis has been well established, little is known about the risk of pancreatic cancer in SPINK 1 gene mutation carriers with pancreatitis.
|
27358244 |
2017 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis.
|
27179223 |
2016 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This analysis revealed that c.-30_-28delTCC resulted in reduced rather than increased PRSS1 gene expression, suggesting that it is not a CP risk factor as originally claimed.
|
27432637 |
2016 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A recent genome-wide association study (GWAS) identified association with variants in X-linked CLDN2 and MORC4, and PRSS1-PRSS2 loci with chronic pancreatitis (CP) in North American patients of European ancestry.
|
26820620 |
2016 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that PRSS1 variant p.L104P exhibits a variety of phenotypic changes that can increase risk for chronic pancreatitis.
|
26822915 |
2016 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Ethnicity and mutations in PRSS1 or SPINK1 may influence the development of CP.
|
27064572 |
2016 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A genome-wide association study reported an association of chronic pancreatitis (CP) with variants in PRSS1-PRSS2 (rs10273639; near the gene encoding cationic trypsinogen) and CLDN2-MORC4 loci (rs7057398 in RIPPLY1 and rs12688220 in MORC4).
|
25253127 |
2015 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we evaluated the association of claudin2 and PRSS1-PRSS2 polymorphisms with idiopathic RAP and CP.
|
26110235 |
2015 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
|
25546417 |
2015 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we review the PRSS1 variants published since 1996 and discuss their functional properties and role in chronic pancreatitis.
|
24458023 |
2014 |
|
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 |
Biomarker
|
disease |
BEFREE |
Other than inheritance, PRSS1 pancreatitis has been considered clinically and pathologically indistinguishable from other etiologies of chronic pancreatitis.
|
24525505 |
2014 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
|
23455445 |
2014 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes encoding cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (SPINK1) and chymotrypsinogen C (CTRC) are associated with chronic pancreatitis.
|
24260417 |
2013 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
|
22427236 |
2013 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis.
|
22699143 |
2012 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to describe specific novel mutations in the intron of the PRSS1 gene in patients with pancreatic cancer and CP.
|
22109105 |
2012 |