|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Severe clinical forms of cytochrome b-negative chronic granulomatous disease (X91-) in 3 brothers with a point mutation in the promoter region of CYBB.
|
14624387 |
2003 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report here two atypical cases of X-linked CGD patients (first cousins) in which cytochrome b(558) is present at a normal level but is not functional (X91+).
|
11997083 |
2002 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with chronic granulomatous disease (CGD) are defective in one of the phagocyte oxidase (phox) components, p47-phox or p67-phox, which reside in the cytosol of resting phagocytes, or gp91-phox or p22-phox, which constitute the membrane-bound cytochrome b(558).
|
10627478 |
2000 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Their sons suffered from X-linked cytochrome-b negative CGD.
|
10725815 |
2000 |
|
Chronic granulomatous disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The diagnosis of CGD in both the latest male patient and the index male was confirmed by marked impairment in polymorphonuclear leucocyte oxidative burst activity in association with absence of both subunits of cytochrome b.
|
10844491 |
2000 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Several other genes, including the alpha subunit of cytochrome B (CYBA), which is deleted or mutated in the autosomal form of chronic granulomatous disease, are located in the 16q24.3 region, but PCR amplification showed that this gene was present in the proband.
|
10479485 |
1999 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations resulting in CGD have been shown to occur in only four genes, thus identifying the main components of the oxidase complex, namely the two subunits of a membrane-bound cytochrome b and two cytosolic factors of activation of 67 kD (p67phox) and 47 kD (p47phox).
|
7803798 |
1995 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic analysis of a patient with the variant cytochrome b-245-positive form of chronic granulomatous disease revealed a missense mutation resulting in a Arg54-->Ser substitution in the gp91phox subunit of cytochrome b-245.
|
7713925 |
1995 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) results from defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, central to which is the membrane-bound cytochrome b-245.
|
7919388 |
1994 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic heterogeneity in 12 patients from 11 different families with X-linked recessive chronic granulomatous disease was studied by Southern blot analysis using cytochrome b heavy-chain cDNA as a probe.
|
1603631 |
1992 |
|
Chronic granulomatous disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The normal expression of Rap1A in CGD cell membranes also indicates that this protein is not responsible for the absence of O2- production in the X-linked and autosomal recessive cytochrome b-negative forms of CGD.
|
1315174 |
1992 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
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 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic defects in the cytochrome b subunits and in the cytosolic factors have been shown to be the molecular basis of chronic granulomatous disease, a group of inherited disorders in the host defense, characterized by severe, recurrent bacterial and fungal infections in which phagocytic cells fail to generate O2- upon stimulation.
|
1657601 |
1991 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Furthermore, subcutaneous interferon-gamma administration improves bactericidal activity in neutrophils and monocytes derived from patients with X-linked, cytochrome b-negative CGD, despite the lack of effect on superoxide production.
|
1934607 |
1991 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Cytochrome b is absent in two subgroups of chronic granulomatous disease (CGD), an inherited disorder characterized by the lack of oxidase activity.
|
2243141 |
1990 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These results strengthen the concept that all X-linked CGD relates to mutations affecting the expression or structure of the 91-kD cytochrome b subunit.
|
2556453 |
1989 |
|
Chronic granulomatous disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
To address this question we have studied the expression of the cytochrome b subunits in three genetically distinct forms of CGD: X-linked/cytochrome b-negative (X-), autosomal recessive/cytochrome b-negative (A-), and autosomal recessive/cytochrome b-positive (A+).
|
2713485 |
1989 |
|
Chronic granulomatous disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The molecular basis of chronic granulomatous disease, in which defective electron transport down this chain predisposes to infection and impaired digestion by phagocytes, is explained in terms of anomalies of the cytochrome b and related molecules.
|
3292507 |
1988 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Chronic granulomatous disease with neutrophil membrane cytochrome b deficiency: demonstration by immunochemical staining with monoclonal antibody.
|
3381223 |
1988 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although the interferon-treated CGD granulocytes produced superoxide at a rate 40% of normal, the cytochrome b spectrum remained undetectable.
|
2821069 |
1987 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Cytochrome b was detected in PMNs from all 24 normal adults (47.4 +/- 2.9 pmol/7.5 X 10(6) cells), was absent in PMNs from 11 male CGD patients and one female CGD patient but was present in normal amounts in PMNs from nine male and nine female CGD patients.
|
3955232 |
1986 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization.
|
3980731 |
1985 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The molecular defect in the X-linked subgroup of CGD is the absence of this cytochrome b-245, which, however, appears to be normal in those subjects with the autosomal recessive mode of inheritance.
|
4033752 |
1985 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
We thus conclude that cytochrome b is part of the O2-/H2O2 generating system and that somatic cell hybridization experiments with monocytes provide a means of studying the genetic background of CGD patients.
|
6320013 |
1984 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, absence or malfunction of the cytochrome b-245 may be the causal molecular defect in chronic granulomatous disease, implicating it in the microbicidal oxidase system.
|
6848934 |
1983 |