Chronic granulomatous disease. (Q30335769)

19 June 2017

title

Chronic granulomatous disease. (English)

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19 June 2017

Paul G Heyworth

1

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19 June 2017

Andrew R Cross

series ordinal

2

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19 June 2017

John T Curnutte

series ordinal

3

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19 June 2017

publication date

1 October 2003

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Current Opinion in Immunology

19 June 2017

published in

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19 June 2017

volume

15

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19 June 2017

issue

5

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19 June 2017

page(s)

578-584

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publication type of scholarly work

19 June 2017

review article

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Genetic, biochemical, and clinical features of chronic granulomatous disease.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Chronic granulomatous disease. Report on a national registry of 368 patients

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7 January 2021

The superoxide-generating NADPH oxidase: structural aspects and activation mechanism

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https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

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https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

The PX domains of p47phox and p40phox bind to lipid products of PI(3)K

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

PX domains: attracted by phosphoinositides

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Chronic granulomatous disease mutations and the PX domain

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Gene-scan method for the recognition of carriers and patients with p47phox-deficient autosomal recessive chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

Association between p47phox pseudogenes and inflammatory bowel disease

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900109-2

7 January 2021

10.1016/S0952-7915(03)00109-2

Identifiers

DOI

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19 June 2017

1 reference