(Q34190328)

31 July 2017

title

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease (English)

1 reference

combined immunodeficiency

31 July 2017

1 reference

1 reference

1 reference

https://api.crossref.org/works/10.1038/NG1149

23 December 2023

author name string

Shoichiro Taniuchi

4

1 reference

31 July 2017

Joze Bohinjec

5

1 reference

31 July 2017

Fleur Francois

6

1 reference

31 July 2017

Paolo A. Hernandez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12692554

23 December 2023

Robert J. Gorlin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12692554

23 December 2023

John N. Lukens

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12692554

23 December 2023

Mary E. Klotman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12692554

23 December 2023

George A. Diaz

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12692554

23 December 2023

language of work or name

English

0 references

publication date

1 May 2003

1 reference

full work available at URL

31 July 2017

http://www.nature.com/articles/ng1149.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/NG1149

http://www.nature.com/articles/ng1149

23 December 2023

1 reference

https://api.crossref.org/works/10.1038/NG1149

23 December 2023

1 reference

31 July 2017

volume

34

1 reference

31 July 2017

issue

1

1 reference

31 July 2017

page(s)

70-74

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1149

31 July 2017

exact match

0 references

cites work

A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia

1 reference

7 January 2021

"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE

1 reference

7 January 2021

An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia

1 reference

7 January 2021

'Myelokathexis'. Neutropenia with marrow hyperplasia

1 reference

7 January 2021

Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Dizygotic twin sisters with myelokathexis: mechanism of its neutropenia

1 reference

7 January 2021

Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature

1 reference

7 January 2021

HIV-1 Entry Cofactor: Functional cDNA Cloning of a Seven-Transmembrane, G Protein-Coupled Receptor

1 reference

7 January 2021

Defects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/SDF-1

1 reference

7 January 2021

Impaired B-lymphopoiesis, myelopoiesis, and derailed cerebellar neuron migration in CXCR4- and SDF-1-deficient mice

1 reference

7 January 2021

The chemokine receptor CXCR4 is essential for vascularization of the gastrointestinal tract

1 reference

7 January 2021

Function of the chemokine receptor CXCR4 in haematopoiesis and in cerebellar development

1 reference

7 January 2021

Myelokathexis: chronic neutropenia with hyperplastic bone marrow and hypersegmented neutrophils in two siblings

1 reference

7 January 2021

Regulation of human chemokine receptors CXCR4. Role of phosphorylation in desensitization and internalization

1 reference

7 January 2021

Dissociation of chemotaxis from agonist-induced receptor internalization in a lymphocyte cell line transfected with CCR2B. Evidence that directed migration does not require rapid modulation of signaling at the receptor level

1 reference

7 January 2021

Characterization of sequence determinants within the carboxyl-terminal domain of chemokine receptor CCR5 that regulate signaling and receptor internalization

1 reference

7 January 2021

Identification of a major co-receptor for primary isolates of HIV-1

1 reference

7 January 2021

Involvement of chemokine receptors in breast cancer metastasis

1 reference

7 January 2021

The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

1 reference

7 January 2021

Phosphatidylinositol 3-kinase regulates human immunodeficiency virus type 1 replication following viral entry in primary CD4+ T lymphocytes and macrophages

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1149

1 reference

31 July 2017

1 reference