|
Hereditary Angioedema Type III
|
|
0.830 |
GeneticVariation
|
BEFREE |
Consistent with this, mutant fXII (fXII-Thr309Lys) from patients with hereditary angioedema type III (HAEIII) is protected from CpaA inactivation.
|
30563903 |
2018 |
|
Hereditary Angioedema Type III
|
|
0.830 |
GeneticVariation
|
BEFREE |
Intravital laser-scanning microscopy revealed that, compared with control animals, both F12-/- mice reconstituted with recombinant mutant forms of FXII and humanized HAEIII mouse models with inducible liver-specific expression of Thr309Lys-mutated FXII exhibited increased contact-driven microvascular leakage.
|
26193639 |
2015 |
|
Hereditary Angioedema Type III
|
|
0.830 |
GeneticVariation
|
BEFREE |
Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III.
|
19178407 |
2009 |
|
Hereditary Angioedema Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Hereditary Angioedema Type III
|
|
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Angioedema Type III
|
|
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
Angioedemas, Hereditary
|
|
0.750 |
GeneticVariation
|
BEFREE |
We expressed wild type FXII (FXII-WT), FXII-W268R and FXII-T309R (which causes HAE), as well as other FXII variants in HEK293 freestyle cells.
|
31771982 |
2020 |
|
Angioedemas, Hereditary
|
|
0.750 |
GeneticVariation
|
BEFREE |
The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women).
|
25790805 |
2015 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women).
|
25790805 |
2015 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
Characterization of patients with angioedema without wheals: the importance of F12 gene screening.
|
25744496 |
2015 |
|
Angioedemas, Hereditary
|
|
0.750 |
GeneticVariation
|
BEFREE |
Hereditary angioedema (HAE) with normal C1 inhibitor (C1Inh) associated with the c.983C>A and c.983C>G mutations of the F12 gene (FXII-HAE) is a rare condition, and presents with highly variable clinical expression.
|
25134986 |
2014 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene.
|
20490261 |
2010 |
|
Angioedemas, Hereditary
|
|
0.750 |
GeneticVariation
|
BEFREE |
Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys.
|
19474702 |
2009 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
The aim of this study was to examine elements of the kallikrein-kinin system ('contact system') and the downstream-linked coagulation, complement and fibrinolytic systems in the plasma of six patients with HAE caused by the Thr309Lys mutation and healthy probands.
|
19474702 |
2009 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.
|
19178938 |
2009 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene.
|
17825897 |
2007 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.
|
16638441 |
2006 |
|
Angioedemas, Hereditary
|
|
0.750 |
GeneticVariation
|
BEFREE |
To shed more light on the pathogenic relevance of the HAE type</span> III-associated p.Thr328Lys mutation, we compared FXII activity and plasma levels in patients carrying the mutation with that of healthy control individuals.
|
17186468 |
2006 |
|
Angioedemas, Hereditary
|
|
0.750 |
CausalMutation
|
CLINVAR |
To shed more light on the pathogenic relevance of the HAE type III-associated p.Thr328Lys mutation, we compared FXII activity and plasma levels in patients carrying the mutation with that of healthy control individuals.
|
17186468 |
2006 |
|
Angioedema
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Urticaria
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Increased bilirubin level (finding)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypertensive disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Factor XII Deficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|