(Q37008479)

English

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

scientific article published on 06 September 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

X-linked chronic granulomatous disease

0 references

author name string

Eric M Lewis

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Manav Singla

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Susan Sergeant

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Patrick P Koty

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Linda C McPhail

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

publication date

6 September 2008

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Clinical Immunology

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

129

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

372-380

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Nox enzymes in immune cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

X-inactivation and the dynamic maintenance of gene silencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Structural organization of the neutrophil NADPH oxidase: phosphorylation and translocation during priming and activation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

DNA methylation in mammalian development and disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Genetic and biochemical background of chronic granulomatous disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Phagocyte immunodeficiencies and their infections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Chronic granulomatous disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Sex chromatin and gene action in the mammalian X-chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Molecular basis of phosphorylation-induced activation of the NADPH oxidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Chronic granulomatous disease and other disorders of neutrophil function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Topological mapping of neutrophil cytochrome b epitopes with phage-display libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

X-linked inheritance in females with chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Coregulation of NADPH oxidase activation and phosphorylation of a 48-kD protein(s) by a cytosolic factor defective in autosomal recessive chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Activation of human neutrophil nicotinamide adenine dinucleotide phosphate, reduced (triphosphopyridine nucleotide, reduced) oxidase by arachidonic acid in a cell-free system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

The role of superoxide anion generation in phagocytic bactericidal activity. Studies with normal and chronic granulomatous disease leukocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

29 September 2017

Gastrointestinal complications of chronic granulomatous disease: case report and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

27 June 2018

Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

27 June 2018

Persistent Salmonella Infection in a Female Carrier for Chronic Granulomatous Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

27 June 2018

Depression of polymorphonuclear leukocyte functions by purified influenza virus hemagglutinin and sialic acid-binding lectins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

27 June 2018

Chronic granulomatous disease in an adult female with granulomatous cheilitis. Evidence for an X-linked pattern of inheritance with extreme lyonization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

27 June 2018

Characterization of neutrophil NADPH oxidase factors p47-phox and p67-phox from recombinant baculoviruses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

27 June 2018

Severe X-linked chronic granulomatous disease in two unrelated females.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

Phosphatidic acid regulates tyrosine phosphorylating activity in human neutrophils: enhancement of Fgr activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

X inactivation in females with X-linked disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

Evaluation of flow cytometric methods for diagnosis of chronic granulomatous disease variants under routine laboratory conditions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

Identification of a carrier mother of a female patient with chronic granulomatous disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2599929

4 September 2018

Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The microestimation of succinate and the extinction coefficient of cytochrome c

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monoclonal antibody 7D5 raised to cytochrome b558 of human neutrophils: immunocytochemical detection of the antigen in peripheral phagocytes of normal subjects, patients with chronic granulomatous disease, and their carrier mothers

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of chronic granulomatous disease and of its mode of inheritance by dihydrorhodamine 123 and flow microcytofluorometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studying X inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphatidic acid and diacylglycerol synergize in a cell-free system for activation of NADPH oxidase from human neutrophils

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipopolysaccharide-inactivating activity of neutrophils is due to lactoferrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Opsonized zymosan stimulates the redistribution of protein kinase C isoforms in human neutrophils

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis and carrier detection of chronic granulomatous disease in five families by flow cytometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X Inactivation in Females with X-Linked Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.CLIM.2008.07.022

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

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