(Q37174163)

English

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

scientific article published on 26 May 2008

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Statements

scholarly article

1 reference

Europe PubMed Central

18 August 2017

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene (English)

1 reference

Europe PubMed Central

18 August 2017

ataxia telangiectasia

1 reference

based on heuristic

inferred from title

author name string

E R Staples

1

1 reference

Europe PubMed Central

18 August 2017

E M McDermott

2

1 reference

Europe PubMed Central

18 August 2017

A Reiman

3

1 reference

Europe PubMed Central

18 August 2017

P J Byrd

4

1 reference

Europe PubMed Central

18 August 2017

S Ritchie

5

1 reference

Europe PubMed Central

18 August 2017

A M R Taylor

6

1 reference

Europe PubMed Central

18 August 2017

E G Davies

7

1 reference

Europe PubMed Central

18 August 2017

publication date

26 May 2008

1 reference

Europe PubMed Central

18 August 2017

Clinical and Experimental Immunology

1 reference

Europe PubMed Central

18 August 2017

153

1 reference

Europe PubMed Central

18 August 2017

2

1 reference

Europe PubMed Central

18 August 2017

214-220

1 reference

Europe PubMed Central

18 August 2017

Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Molecular linkage between the kinase ATM and NF-kappaB signaling in response to genotoxic stimuli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Molecular pathology of ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Cancer risks and mortality in heterozygous ATM mutation carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

ATM is required for efficient recombination between immunoglobulin switch regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Immunodeficiency and infections in ataxia-telangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

ATM and related protein kinases: safeguarding genome integrity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Caspases and mitochondria in c-Myc-induced apoptosis: identification of ATM as a new target of caspases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Serum IgD concentrations in patients with ataxia telangiectasia and with selective IgA deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Mutations associated with variant phenotypes in ataxia-telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

Selective deficiency of CD4+/CD45RA+ lymphocytes in patients with ataxia-telangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492895

19 September 2018

ATAXIA-TELANGIECTASIA. ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCY

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IgG2 deficiency in ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IgG subclass concentrations in absolute, partial and transient IgA deficiency in childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antipolysaccharide antibodies in 450 children with otitis media

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical spectrum of X-linked hyper-IgM syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intact T cell responses in ataxia telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505428

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1365-2249.2008.03684.X

1 reference

Europe PubMed Central

18 August 2017

0 references

1 reference

Europe PubMed Central

18 August 2017

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0 references

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