(Q31883583)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

mutational analysis

1 reference

based on heuristic

inferred from title

chronic granulomatous disease

1 reference

based on heuristic

inferred from title

author name string

Vázquez N

1

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Lehrnbecher T

2

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Europe PubMed Central

PubMed publication ID

4 July 2017

Chen R

3

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Christensen BL

4

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Gallin JI

5

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Malech H

6

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Holland S

7

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Zhu S

8

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Chanock SJ

9

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 February 2001

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Experimental Hematology

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Europe PubMed Central

PubMed publication ID

4 July 2017

29

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

234-243

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Europe PubMed Central

PubMed publication ID

4 July 2017

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

1 reference

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The genetic basis of chronic granulomatous disease

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Chronic granulomatous disease

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Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease

1 reference

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Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation

1 reference

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Assembly of the phagocyte NADPH oxidase: molecular interaction of oxidase proteins

1 reference

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p40phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains

1 reference

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Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein

1 reference

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The phosphorylation targets of p47phox, a subunit of the respiratory burst oxidase. Functions of the individual target serines as evaluated by site-directed mutagenesis

1 reference

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Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system

1 reference

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

1 reference

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Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease

1 reference

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inferred from DOI database lookup

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

1 reference

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Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic structure of the human p47-phox (NCF1) gene

1 reference

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7 January 2021

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Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease

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A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb.

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A complete physical contig and partial transcript map of the Williams syndrome critical region.

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A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

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Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

1 reference

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A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome

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Twin genes and endocrine disease: CYP21 and CYP11B genes

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

1 reference

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Gaucher disease as a paradigm of current issues regarding single gene mutations of humans

1 reference

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based on heuristic

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Hotspots of homologous recombination

1 reference

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based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0301-472X(00)00646-9

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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