Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
|
27537055 |
2016 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
|
23910690 |
2013 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.
|
19292887 |
2009 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.
|
18422995 |
2008 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
|
10910929 |
2000 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
|
10914676 |
2000 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.
|
10759707 |
2000 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.
|
10759707 |
2000 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.
|
10759707 |
2000 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
|
10910929 |
2000 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox.
|
7964505 |
1994 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.
|
8168815 |
1994 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
|
1415254 |
1992 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.
|
1763037 |
1991 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.
|
2243141 |
1990 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
The NAPDH oxidase (Nox) family is emerging as a key disease-related factor in vascular diseases, but currently its role in hypoxia-induced pulmonary remodelling in COPD remains unclear.Here we investigate the role of p22phox, a regulatory subunit of Nox, in COPD lungs, hypoxic pulmonary vasoconstriction (HPV), hypoxia-induced pulmonary vascular remodelling and pulmonary hypertension.In COPD, compared to control lungs, p22phox expression was significantly reduced.
|
28729471 |
2017 |
Hypertensive disease
|
0.600 |
GeneticVariation
|
group |
BEFREE |
The CYBA Gene (⁎)49A>G Polymorphism (rs7195830) Is Associated with Hypertension in Patients with Coronary Artery Disease.
|
27314008 |
2016 |
Hypertensive disease
|
0.600 |
GeneticVariation
|
group |
BEFREE |
CYBA (p22(phox)) variants influence the markers of oxidative stress and are associated with hypertension.
|
25787042 |
2015 |
Hypertensive disease
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Blood pressure or the prevalence of hypertension did not vary between C242T p22PHOX genotypes or in the presence or absence of the T-allele.
|
24573492 |
2014 |
Hypertensive disease
|
0.600 |
GeneticVariation
|
group |
BEFREE |
According to the results of cross-sectional study, the tested polymorphism of the NADPH oxidase P22phox gene (rs4673) was found to be associated with the development of AH, indicating that the oxidative stress gene NADPH oxidase might be implicated in the pathogenesis of AH in subjects with type 2 diabetes.
|
23701472 |
2014 |
Hypertensive disease
|
0.600 |
GeneticVariation
|
group |
BEFREE |
The A930G polymorphism ofP22phox (CYBA) gene but not C242T variation is associated with hypertension: a meta-analysis.
|
24349292 |
2013 |
Hypertensive disease
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Reactive oxygen species are implicated in the physiopathogenesis of salt-induced hypertension and the C242T polymorphism of the p22-phox gene has been associated with higher superoxide production.
|
24339896 |
2013 |
Hypertensive disease
|
0.600 |
GeneticVariation
|
group |
BEFREE |
These data suggest that the T allele of the CYBA C242T polymorphism may be used as a marker for adverse metabolic features in Brazilian subjects with systemic hypertension.
|
22268370 |
2012 |
Hypertensive disease
|
0.600 |
Biomarker
|
group |
RGD |
Asymmetric dimethylarginine in angiotensin II-induced hypertension.
|
20018820 |
2010 |