Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558. (Q34185348)

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

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

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

1 reference

Europe PubMed Central

31 July 2017

X-linked chronic granulomatous disease

0 references

author name string

P E Newburger

1

1 reference

Europe PubMed Central

31 July 2017

D G Skalnik

2

1 reference

Europe PubMed Central

31 July 2017

P J Hopkins

3

1 reference

Europe PubMed Central

31 July 2017

E A Eklund

4

1 reference

Europe PubMed Central

31 July 2017

J T Curnutte

5

1 reference

Europe PubMed Central

31 July 2017

language of work or name

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publication date

1 September 1994

1 reference

Europe PubMed Central

31 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

31 July 2017

94

1 reference

Europe PubMed Central

31 July 2017

3

1 reference

Europe PubMed Central

31 July 2017

1205-1211

1 reference

Europe PubMed Central

31 July 2017

A fatal granulomatosus of childhood: the clinical study of a new syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Determination of messenger RNA 5'-ends by reverse transcription of the cap structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Studies of the Metabolic Activity of Leukocytes from Patients with a Genetic Abnormality of Phagocytic Function*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Characterization of a new human diploid myeloid leukemia cell line (PLB-985) with granulocytic and monocytic differentiating capacity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

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=295199

5 July 2018

Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

DNA linkage analysis of X chromosome-linked chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Clinical features and current management 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=295199

5 July 2018

Incidence, severity, and prevention of infections in chronic granulomatous disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Molecular genetics 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=295199

5 July 2018

PCR-based cDNA library construction: general cDNA libraries at the level of a few cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Prognosis 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=295199

5 July 2018

Molecular basis 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=295199

5 July 2018

Oligodeoxyribonucleotide ligation to single-stranded cDNAs: a new tool for cloning 5' ends of mRNAs and for constructing cDNA libraries by in vitro amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

CCAAT displacement protein as a repressor of the myelomonocytic-specific gp91-phox gene promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295199

5 July 2018

Defective superoxide production by granulocytes from patients with chronic granulomatous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Variant of Chronic Granulomatous Disease: Deficient Oxidative Metabolism Due to a Low-Affinity NADPH Oxidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic granulomatous disease due to granulocytes with abnormal NADPH oxidase activity and deficient cytochrome-b

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for extensive methylation of ribosomal RNA genes in a rat XC cell line

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

B cell lines as models for inherited phagocytic diseases: abnormal superoxide generation in chronic granulomatous disease and giant granules in Chediak-Higashi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variant chronic granulomatous disease: modulation of the neutrophil defect by severe infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of both cytochrome b−245 subunits from neutrophils in X-linked chronic granulomatous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Binding of transcription factor TFIID to the major late promoter during in vitro nucleosome assembly potentiates subsequent initiation by RNA polymerase II

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic granulomatous disease with partial deficiency of cytochrome b558 and incomplete respiratory burst: variants of the X-linked, cytochrome b558-negative form of the disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8083361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117437

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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