Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis (Q30430294)

28 October 2017

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis (English)

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severe congenital neutropenia

28 October 2017

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28 October 2017

16

Harry L Malech

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28 October 2017

Scott M Paul

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Kimberly P Dunsmore

object named as

Kimberly P Dunsmore

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Philip M Murphy

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object named as

Philip M Murphy

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28 October 2017

2

Suk See De Ravin

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28 October 2017

Hyun Sik Jun

3

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28 October 2017

Qian Liu

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28 October 2017

Debra A Long Priel

5

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28 October 2017

Pierre Noel

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28 October 2017

Clifford M Takemoto

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28 October 2017

Teresa Ojode

8

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28 October 2017

Dianne Hilligoss

11

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28 October 2017

Martha Marquesen

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28 October 2017

Jean Ulrick

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28 October 2017

Douglas B Kuhns

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28 October 2017

Janice Y Chou

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28 October 2017

language of work or name

English

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publication date

8 July 2010

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28 October 2017

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28 October 2017

116

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28 October 2017

15

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28 October 2017

2793-2802

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Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics

28 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

A syndrome with congenital neutropenia and mutations in G6PC3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

The many causes of severe congenital neutropenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Mitochondrial defects lie at the basis of neutropenia in Barth syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Genetic and molecular diagnosis of severe congenital neutropenia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Severe congenital neutropenia: new genes explain an old disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

5. Mechanisms of disordered granulopoiesis in congenital neutropenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

G-CSF down-regulation of CXCR4 expression identified as a mechanism for mobilization of myeloid cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

G-CSF potently inhibits osteoblast activity and CXCL12 mRNA expression in the bone marrow

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

G-CSF induces stem cell mobilization by decreasing bone marrow SDF-1 and up-regulating CXCR4.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Modulation of CXC chemokine receptor expression and function in human neutrophils during aging in vitro suggests a role in their clearance from circulation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

A pharmacokinetic-pharmacodynamic model for the mobilization of CD34+ hematopoietic progenitor cells by AMD3100.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Evaluation of role of G-CSF in the production, survival, and release of neutrophils from bone marrow into circulation

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974587

Cellular composition of the bone marrow in normal infants and children

26 November 2018

1 reference

12 December 2020

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

1 reference

12 December 2020

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

1 reference

12 December 2020

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

1 reference

12 December 2020

Chemokines acting via CXCR2 and CXCR4 control the release of neutrophils from the bone marrow and their return following senescence

1 reference

12 December 2020

10.1182/BLOOD-2010-01-265942

Identifiers

DOI

1 reference

28 October 2017

1 reference

28 October 2017

PubMed publication ID

20616219

1 reference