A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans. (Q40774385)

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English	A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.	scientific article

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scholarly article

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4 November 2019

A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712675%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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Manuel Hernandez-Gonzalez

2

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4 November 2019

Miguel Ángel García Pérez

4

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4 November 2019

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L M Allende

1

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4 November 2019

A Corell

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4 November 2019

P Varela

5

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4 November 2019

A Moreno

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4 November 2019

I Caragol

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4 November 2019

F García-Martín

8

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4 November 2019

J Guillén-Perales

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4 November 2019

T Olivé

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4 November 2019

T Español

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4 November 2019

A Arnaiz-Villena

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4 November 2019

publication date

1 March 2000

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4 November 2019

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4 November 2019

99

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4 November 2019

3

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4 November 2019

440-450

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4 November 2019

Herpes virus saimiri transformation of T cells in CD3 gamma immunodeficiency: phenotypic and functional characterization.

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29 August 2018

Leukocyte adhesion deficiency syndrome: insights into the molecular basis of leukocyte emigration

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29 August 2018

X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox

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29 August 2018

Evidence for cell surface association of CD2 and LFA-1 (CD11a/CD18) on T lymphocytes

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29 August 2018

Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency

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29 August 2018

A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Peripheral blood reduction of memory (CD29+, CD45RO+, and "bright" CD2+ and LFA-1+) T lymphocytes in Papillon-Lefèvre syndrome

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29 August 2018

Transformation of human T-cell clones by Herpesvirus saimiri: intact antigen recognition by autonomously growing myelin basic protein-specific T cells

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

A human leukocyte differentiation antigen family with distinct alpha-subunits and a common beta-subunit: the lymphocyte function-associated antigen (LFA-1), the C3bi complement receptor (OKM1/Mac-1), and the p150,95 molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

LFA-1 immunodeficiency disease. Definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Chromosomal location of the genes encoding the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95. Identification of a gene cluster involved in cell adhesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Leukocyte adhesion deficiency: molecular basis and functional consequences

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

The CD2 antigen associates with the T-cell antigen receptor CD3 antigen complex on the surface of human T lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Structure and function of leukocyte integrins

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29 August 2018

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21 January 2018

The divergence between two oncogenic Herpesvirus saimiri strains in a genomic region related to the transforming phenotype

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29 August 2018

On the mode of action of LFA-1.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Association of CD2 and CD45 on human T lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates

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29 August 2018

The gene organisation of the human beta 2 integrin subunit (CD18)

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29 August 2018

Restriction fragment length polymorphism of the gene of the human leukocyte integrin beta-subunit (CD18).

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29 August 2018

Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor

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29 August 2018

Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form

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29 August 2018

Human T-cell activation deficiencies

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29 August 2018

Identification of two molecular defects in a child with leukocyte adherence deficiency

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29 August 2018

T cell surface molecules regulating noncognate B lymphocyte activation. Role of CD2 and LFA-1.

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29 August 2018

Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins

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29 August 2018

An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2327173

29 August 2018

Stable growth transformation of human T lymphocytes by herpesvirus saimiri

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29 August 2018

The Severe and Moderate Phenotypes of Heritable Mac-1, LFA-1 Deficiency: Their Quantitative Definition and Relation to Leukocyte Dysfunction and Clinical Features

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21 January 2018

The leukocyte integrins

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2 December 2018

Molecular basis for a severe case of leukocyte adhesion deficiency

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2 December 2018

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

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21 January 2018

Separation of White Blood Cells

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21 January 2018

Alterations of CD2 association with T cell receptor signaling molecules in "CD2 unresponsive" human T lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immortalization of human T cell clones by Herpesvirus saimiri. Signal transduction analysis reveals functional CD3, CD4, and IL-2 receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of leukocyte adhesion deficiency in six patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of red blood cell lysing solutions for the detection of intracellular antigens by flow cytometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity in the molecular defect leading to the leukocyte adhesion deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a moderate deficiency phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Signaling from LFA-1 contributes signal transduction through CD2 alternative pathway in T cell activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712675

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1046/J.1365-2567.2000.00960.X

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712675%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PMC publication ID

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712675%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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