(Q36384593)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17875809%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1) (English)

1 reference

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7 January 2020

4

1 reference

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7 January 2020

Joao B. Oliveira

10

1 reference

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7 January 2020

1

Gulbu Uzel

1 reference

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7 January 2020

3

Sergio D Rosenzweig

1 reference

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7 January 2020

6

Mitchell E Horwitz

1 reference

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7 January 2020

7

Gilda F Linton

1 reference

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7 January 2020

12

Thomas A Fleisher

1 reference

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7 January 2020

author name string

Emilia Tng

2

1 reference

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7 January 2020

Jacqueline M Shaw

5

1 reference

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7 January 2020

Stacie M Anderson

8

1 reference

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7 January 2020

Martha R Kirby

9

1 reference

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7 January 2020

Margaret R Brown

11

1 reference

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7 January 2020

S K Alex Law

13

1 reference

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7 January 2020

Steven M Holland

14

1 reference

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7 January 2020

language of work or name

English

0 references

publication date

17 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17875809%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

number of pages

10

1 reference

inferred from page(s)

published in

Blood

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17875809%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

111

1 reference

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7 January 2020

issue

1

1 reference

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7 January 2020

page(s)

209-218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17875809%20AND%20SRC:MED&resulttype=core&format=json

In vivo reversion to normal of inherited mutations in humans

7 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Beta2 integrins are required for skin homing of primed T cells but not for priming naive T cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Genetic analysis of integrin function in man: LAD-1 and other syndromes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Revertant mosaicism in human genetic disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Inherited deficiency of the Mac-1, LFA-1, p150,95 glycoprotein family and its molecular basis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Procedural guidelines for performing immunophenotyping by flow cytometry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Reverse mutations--spontaneous amelioration or cure of inherited disorders?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Phenotypic and functional separation of memory and effector human CD8+ T cells

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Leucocyte adhesion deficiency presenting as a chronic ileocolitis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Rap1A positively regulates T cells via integrin activation rather than inhibiting lymphocyte signaling

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

5 December 2018

1 reference

12 December 2020

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

12 December 2020

Rapid quantification of mixed chimerism using multiplex amplification of short tandem repeat markers and fluorescence detection

1 reference

12 December 2020

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency

1 reference

12 December 2020

Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1

1 reference

12 December 2020

A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD)

1 reference

12 December 2020

Dysfunctional LAD-1 neutrophils and colitis

1 reference

12 December 2020

Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95

1 reference

12 December 2020

An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein

1 reference

12 December 2020

Recurrent infections and delayed separation of the umbilical cord in an infant with abnormal phagocytic cell locomotion and oxidative response during particle phagocytosis

1 reference

12 December 2020

A human lymphocyte-associated antigen involved in cell-mediated lympholysis

1 reference

12 December 2020

A phenotypically normal revertant of an adenosine deaminase-deficient lymphoblast cell line

1 reference

12 December 2020

The human lymphocyte function-associated (HLFA) antigen and a related macrophage differentiation antigen (HMac-1): functional effects of subunit-specific monoclonal antibodies

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular characterization of leukocyte adhesion deficiency in six patients

1 reference

12 December 2020

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 reference

12 December 2020

10.1182/BLOOD-2007-04-082552

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17875809%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17875809%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

17875809

1 reference