High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
Contents of coagulation factors in B/N Katholiek thus measured as well as the values of prekallikrein and HMW kininogen previously reported were summarized and suggested that B/N Katholiek rat could be similar deficiency as Fitzgerald trait.
|
6710438 |
1984 |
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression.
|
12576314 |
2003 |
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
This case reports the first description of Fitzgerald factor (high molecular weight kininogen) deficiency in Australia.
|
3574180 |
1987 |
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.
|
28053049 |
2017 |
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
Prekallikrein deficiency in a kindred with kininogen deficiency and Fitzgerald trait clotting defect. Evidence that high molecular weight kininogen and prekallikrein exist as a complex in normal human plasma.
|
893663 |
1977 |
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
Remarkably, kininogen deficiency did not modify HDM-induced eosinophil/neutrophil influx, T helper 2 responses, mucus production, or lung pathology. kininogen ASO treatment started after HDM sensitization reduced plasma kininogen levels by 75% and reproduced the phenotype of kininogen deficiency: kininogen ASO administration prevented the HDM-induced increase in Penh without influencing leukocyte influx, Th2 responses, mucus production, or lung pathology.
|
30358441 |
2019 |
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We conclude that a single base mutation in the kininogen gene exon 5 was responsible for kininogen deficiency in the Williams family.
|
7901207 |
1993 |
High molecular weight kininogen deficiency
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
High molecular weight kininogen deficiency
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Isolated high-molecular-weight kininogen deficiency: a novel frameshift mutation in exon 10.
|
17522339 |
2007 |
High molecular weight kininogen deficiency
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We conclude that a single base mutation in the kininogen gene exon 5 was responsible for kininogen deficiency in the Williams family.
|
7901207 |
1993 |
High molecular weight kininogen deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
Kininogen deficiency in Fitzgerald trait: role of high molecular weight kininogen in clotting and fibrinolysis.
|
1245795 |
1976 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
The kinins (primarily bradykinin, BK) represent the mediators responsible for local increase of vascular permeability in hereditary angioedema (HAE), HAE I-II associated with alterations of the SERPING1 gene and HAE with normal C1-Inhibitor function (HAE-nC1INH).
|
23940538 |
2013 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
A review was conducted of scientific papers on different types of bradykinin-induced angioedema (hereditary and acquired angioedema due to C1 inhibitor deficiency, hereditary angioedema related to estrogens, angioedema induced by angiotensin-converting enzyme inhibitors).
|
21905496 |
2011 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Activation of bradykinin-mediated B2 receptor has been shown to play an important role in the onset of angioedema associated with C1 inhibitor deficiency.
|
19796797 |
2009 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
To perform serial assessment of abnormalities of the bradykinin-forming pathway and fibrinolysis in patients with HAE after treatment of episodes of swelling with intravenous C1-INH.
|
20143645 |
2010 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Despite the efficacy of the on-demand treatment for the control of acute attacks of Hereditary Angioedema due to C1-Inhibitor Deficiency (C1-INH-HAE), the number and severity of attacks and the impairment in the quality of life of the affected patients have led to the development of a new monoclonal antibody, lanadelumab, directly addressed to the blockage of bradykinin, the principal mediator of vasodilation during angioedema attacks.
|
31695331 |
2019 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
To assess whether the selective bradykinin receptor-2 antagonist Icatibant is effective in acute edema attacks of hereditary angioedema.
|
17418383 |
2007 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Bradykinin, which is considered to be a byproduct of the plasma contact system during in vitro coagulation, is the main disease mediator in HAE.
|
29920929 |
2018 |
Angioedemas, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Low C1-INH function results in overproduction of bradykinin, the primary cause of HAE symptoms.
|
22801442 |
2012 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Hereditary angioedema: Looking for bradykinin production and triggers of vascular permeability.
|
31574187 |
2019 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
The swelling in C1-INH-HAE is a result of impaired regulation of bradykinin production.
|
30479631 |
2018 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
The primary mediator of swelling in HAE is bradykinin, a product of the plasma contact system that increases vascular permeability.
|
24484972 |
2014 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Unregulated pKal activity can lead to hereditary angioedema (HAE) following excess bradykinin release.
|
30876891 |
2019 |
Angioedemas, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
High-molecular-weight kininogen cleavage correlates with disease states in the bradykinin-mediated angioedema due to hereditary C1-inhibitor deficiency.
|
24552232 |
2014 |