X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. (Q24538965)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9585602%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase (English)

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X-linked chronic granulomatous disease

11 November 2019

main subject

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author

Peter Newburger

2

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11 November 2019

author name string

J Rae

1

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11 November 2019

M C Dinauer

3

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11 November 2019

D Noack

4

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11 November 2019

P J Hopkins

5

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11 November 2019

R Kuruto

6

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11 November 2019

J T Curnutte

7

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11 November 2019

language of work or name

English

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publication date

1 June 1998

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American Journal of Human Genetics

11 November 2019

published in

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11 November 2019

volume

62

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11 November 2019

issue

6

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11 November 2019

page(s)

1320-1331

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A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox

11 November 2019

cites work

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Topology of cytochrome b558 in neutrophil membrane analyzed by anti-peptide antibodies and proteolysis

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27 September 2017

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Effects of nonsense mutations on nuclear and cytoplasmic adenine phosphoribosyltransferase RNA.

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27 September 2017

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Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

27 September 2017

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In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease

27 September 2017

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27 September 2017

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27 September 2017

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30 May 2018

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30 May 2018

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Classification of chronic granulomatous disease

30 May 2018

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30 May 2018

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Chronic Granulomatous Disease Presenting in a 69-Year-Old Man

30 May 2018

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30 May 2018

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Biosynthesis of the phagocyte NADPH oxidase cytochrome b558. Role of heme incorporation and heterodimer formation in maturation and stability of gp91phox and p22phox subunits

30 May 2018

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A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells.

29 November 2018

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Cytochrome b-245 of the neutrophil superoxide-generating system contains two nonidentical hemes. Potentiometric studies of a mutant form of gp91phox

29 November 2018

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29 November 2018

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29 November 2018

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A role for exon sequences and splice-site proximity in splice-site selection

29 November 2018

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12 December 2020

Activation of neutrophil NADPH oxidase in a cell-free system. Partial purification of components and characterization of the activation process

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12 December 2020

Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus

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12 December 2020

Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma

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A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease

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A novel polymorphism in the coding region of CYBB, the human gp91-phox gene

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X-CGDbase: a database of X-CGD-causing mutations

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12 December 2020

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype

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Splice site mutations are a common cause of X-linked chronic granulomatous disease

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12 December 2020

Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters

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Chronic granulomatous disease and glutathione peroxidase deficiency, revisited

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12 December 2020

Characterization of a gp91-phox promoter element that is required for interferon gamma-induced transcription

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Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg

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Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance

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A Fatal Granulomatous Disease of Childhood

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7 January 2021

Chronic granulomatous disease: the solving of a clinical riddle at the molecular level

1 reference

7 January 2021

A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease

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7 January 2021

The rate of spontaneous mutation of a human gene

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7 January 2021

Identifiers

DOI

10.1086/301874

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9585602%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9585602%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference