|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
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 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
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 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.
|
21415673 |
2011 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Chronic pancreatitis: genetics and pathogenesis.
|
19453252 |
2009 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The natural history of hereditary pancreatitis: a national series.
|
18755888 |
2009 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Biochemical models of hereditary pancreatitis.
|
16632094 |
2006 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Based on these findings, we revised the criteria for the diagnosis of HP; (1) recurrent acute or chronic pancreatitis with R122H or N29I mutation of the CT gene, or (2) recurrent acute or chronic pancreatitis with a family history of 2 or more affected patients, irrespective of generation, with at least 1 of the patients having no known etiological factors, and in case of siblings only, the onset of the disease in at least 1 of the patients is under age 40 years.
|
15028953 |
2004 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Risk factors for cancer in hereditary pancreatitis. International Hereditary Pancreatitis Study Group.
|
10872414 |
2000 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Here we demonstrate that the two most frequent HP mutations, Arg117 --> His and Asn21 --> Ile, significantly enhance autoactivation of human cationic trypsinogen in vitro, in a manner that correlates with the severity of clinical symptoms in HP.
|
11097832 |
2000 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Instead, an increased propensity to autoactivation under acidic conditions might be relevant to the pathomechanism of the Asn-21 --> Ile mutation in hereditary pancreatitis.
|
10801865 |
2000 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
|
10204851 |
1999 |
|
rs111033566
|
|
Hereditary pancreatitis
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
|
9322498 |
1997 |
|
rs111033566
|
|
Hereditary pancreatitis
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|