Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the trypsinogen gene (PRSS1) cause human hereditary pancreatitis.
|
31419436 |
2020 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In 1996, mutations in PRSS1 were linked to the development of HP.
|
31550238 |
2020 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>PRSS1</i> (serine protease 1) gene encoding human cationic trypsinogen cause hereditary pancreatitis or may be associated with sporadic chronic pancreatitis.
|
30792736 |
2019 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
|
30420730 |
2018 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary pancreatitis (HP), an autosomal dominant disease typically caused by mutations in PRSS1, has a broad range of clinical characteristics and high cumulative risk of pancreatic cancer.
|
30018304 |
2018 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis.
|
29517634 |
2018 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 and SPINK1 mutations serve as genetic background for HP in Japan.
|
28861620 |
2018 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of PRSS1 gene were found in 80% (33/41) of HP patients.
|
27179762 |
2017 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated.
|
27129265 |
2016 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the human cationic trypsinogen gene (PRSS1) are frequently found in association with hereditary pancreatitis.
|
25546417 |
2015 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.
|
24780743 |
2015 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
|
25383785 |
2015 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the PRSS1 gene is present in greater than 70% of HP kindreds and leads to a gain-of-function characterized by the increased autocatalytic conversion of trypsinogen to active trypsin, promoting autodigestion and damage to acinar cells.
|
26376395 |
2015 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
|
23455445 |
2014 |
Hereditary pancreatitis
|
0.800 |
Biomarker
|
disease |
BEFREE |
In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas.
|
24525505 |
2014 |
Hereditary pancreatitis
|
0.800 |
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
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.
|
24413785 |
2014 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan.
|
23686146 |
2014 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
|
24458023 |
2014 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since the identification of mutations in the cationic trypsinogen (PRSS1) gene as a cause of hereditary pancreatitis in 1996, we have seen great progress in our understanding of the genetics of pancreatitis.
|
24522117 |
2014 |
Hereditary pancreatitis
|
0.800 |
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
|
0.800 |
CausalMutation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.
|
23601753 |
2013 |
Hereditary pancreatitis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
An overview of hereditary pancreatitis.
|
21907651 |
2012 |
Hereditary pancreatitis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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 |