Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon (Q24676601)

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Language	Label	Description	Also known as
English	Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon	scientific article

Statements

scholarly article

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Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon (English)

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Neutrophil-specific granule deficiency

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CCAAT enhancer binding protein epsilon

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GOA release 2020-03-11

granulocyte differentiation

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GOA release 2020-03-11

author name string

J A Lekstrom-Himes

1

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S E Dorman

2

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P Kopar

3

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S M Holland

4

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J I Gallin

5

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language of work or name

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publication date

7 June 1999

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Journal of Experimental Medicine

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189

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11

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1847-52

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Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

CCAAT/enhancer binding protein epsilon is preferentially up-regulated during granulocytic differentiation and its functional versatility is determined by alternative use of promoters and differential splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

CCAAT/enhancer binding protein epsilon is critical for effective neutrophil-mediated response to inflammatory challenge

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

C/EBPepsilon is a myeloid-specific activator of cytokine, chemokine, and macrophage-colony-stimulating factor receptor genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

A family of C/EBP-related proteins capable of forming covalently linked leucine zipper dimers in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

CCAAT/enhancer-binding protein mRNA is translated into multiple proteins with different transcription activation potentials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

Simplified mammalian DNA isolation procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

7 April 2017

Biological role of the CCAAT/enhancer-binding protein family of transcription factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

CCAAT/enhancer binding protein alpha is a regulatory switch sufficient for induction of granulocytic development from bipotential myeloid progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

Impaired granulopoiesis, myelodysplasia, and early lethality in CCAAT/enhancer binding protein epsilon-deficient mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

Absence of granulocyte colony-stimulating factor signaling and neutrophil development in CCAAT enhancer binding protein alpha-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

PU.1 (Spi-1) and C/EBP alpha regulate the granulocyte colony-stimulating factor receptor promoter in myeloid cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

Human neutrophil-specific granule deficiency: a model to assess the role of neutrophil-specific granules in the evolution of the inflammatory response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

28 September 2017

An anomaly of neutrophil morphology with impaired function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

30 May 2018

Congenital neutropenia: neutrophil proliferation with abnormal maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193089

30 May 2018

Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein

1 reference

https://api.crossref.org/works/10.1084/JEM.189.11.1847

21 January 2018

Glandular secretion of lactoferrin in a patient with neutrophil lactoferrin deficiency

1 reference

https://api.crossref.org/works/10.1084/JEM.189.11.1847

21 January 2018

Abnormal neutrophil maturation in a neutrophil defect with morphologic abnormality and impaired function

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lactoferrin deficiency associated with altered granulocyte function

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective bactericidal activity and absence of specific granules in neutrophils from a patient with recurrent bacterial infections

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anomalous neutrophil granule distribution in a patient with lactoferrin deficiency: pertinence to the respiratory burst

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A liver-enriched transcriptional activator protein, LAP, and a transcriptional inhibitory protein, LIP, are translated from the same mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of the largest platelet-von Willebrand multimers in a patient with lactoferrin deficiency and a bleeding tendency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neutrophil-specific granule deficiency includes eosinophils

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructure of neutrophilic phagosome of autologous platelet in vivo in specific granule deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of granule proteins in normal human bone marrow cells. Gelatinase is a marker of terminal neutrophil differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

C/EBP-ε: Chromosomal mapping and mutational analysis of the gene in leukemia and preleukemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ca2 -dependent production and release of IL-8 in human neutrophils

1 reference

https://pubmed.ncbi.nlm.nih.gov/10359588

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1084/JEM.189.11.1847

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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