The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone (Q34195541)

31 July 2017

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title

The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone (English)

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31 July 2017

Gatti RA

1

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31 July 2017

Becker-Catania S

2

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31 July 2017

Chun HH

3

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31 July 2017

Sun X

4

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31 July 2017

Mitui M

5

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31 July 2017

Lai CH

6

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31 July 2017

Khanlou N

7

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31 July 2017

Babaei M

8

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31 July 2017

Cheng R

9

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31 July 2017

Clark C

10

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31 July 2017

Huo Y

11

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31 July 2017

Udar NC

12

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31 July 2017

Iyer RK

13

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31 July 2017

1 February 2001

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Clinical Reviews in Allergy & Immunology

31 July 2017

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31 July 2017

20

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31 July 2017

1

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31 July 2017

87-108

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https://scigraph.springernature.com/pub.10.1385/criai:20:1:87

31 July 2017

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12 December 2020

Ataxia-telangiectasia: A multiparameter analysis of eight families

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12 December 2020

Molecular analysis of a t(14;14) translocation in leukemic T-cells of an ataxia telangiectasia patient

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12 December 2020

Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer

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12 December 2020

Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia

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12 December 2020

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

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12 December 2020

NS22: a highly polymorphic complex microsatellite marker within the ATM gene

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12 December 2020

Cell-cycle regulation of mammalian DNA double-strand-break repair

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12 December 2020

Cancer risks in A-T heterozygotes

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12 December 2020

Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice

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12 December 2020

The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.

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12 December 2020

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

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12 December 2020

Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products

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12 December 2020

Heterozygous ATM mutations do not contribute to early onset of breast cancer

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12 December 2020

A new chromosomal instability disorder confirmed by complementation studies

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12 December 2020

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12 December 2020

ATM-dependent phosphorylation of nibrin in response to radiation exposure

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12 December 2020

Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

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12 December 2020

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

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12 December 2020

Upregulation of ATM in sclerosing adenosis of the breast

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12 December 2020

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

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12 December 2020

Activation of the ATM kinase by ionizing radiation and phosphorylation of p53

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12 December 2020

Mutations associated with variant phenotypes in ataxia-telangiectasia

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12 December 2020

Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia.

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12 December 2020

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening

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12 December 2020

Enhanced phosphorylation of p53 by ATM in response to DNA damage

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12 December 2020

Genotypic analysis of Mycobacterium tuberculosis in two distinct populations using molecular beacons: implications for rapid susceptibility testing

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12 December 2020

In situ visualization of DNA double-strand break repair in human fibroblasts

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12 December 2020

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome

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12 December 2020

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population

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12 December 2020

Immunoglobulin E deficiency in ataxia-telangiectasia

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12 December 2020

Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays

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12 December 2020

Immunoglobulins in ataxia-telangiectasia: evidence for IgG4 and IgA2 subclass deficiencies

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12 December 2020

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia

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12 December 2020

Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs.

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12 December 2020

ATM mutations in cancer families

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12 December 2020

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy

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12 December 2020

Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4(+) and CD8(+) T lymphocytes is ATM-independent.

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12 December 2020

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

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12 December 2020

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

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12 December 2020

Breast and other cancers in families with ataxia-telangiectasia

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12 December 2020

Incidence of cancer in 161 families affected by ataxia-telangiectasia

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12 December 2020

ATM: a mediator of multiple responses to genotoxic stress

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12 December 2020

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

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12 December 2020

No evidence for constitutional ATM mutation in breast/gastric cancer families

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12 December 2020

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

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12 December 2020

Leukemia and lymphoma in ataxia telangiectasia

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12 December 2020

Atm-deficient mice: a paradigm of ataxia telangiectasia

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12 December 2020

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

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12 December 2020

Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia.

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12 December 2020

Genomic organization of the ATM locus involved in ataxia-telangiectasia.

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12 December 2020

Ataxia-telangiectasia: is ATM a sensor of oxidative damage and stress?

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12 December 2020

The molecular basis and clinical management of ataxia telangiectasia.

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12 December 2020

Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia

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12 December 2020

Radiosensitivity and oxidative signalling in ataxia telangiectasia: an update.

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12 December 2020

ATM associates with and phosphorylates p53: mapping the region of interaction

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12 December 2020

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia

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12 December 2020

Circular chromosome formation in a fission yeast mutant defective in two ATM homologues.

1 reference

12 December 2020

Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.

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12 December 2020

ATM-heterozygous germline mutations contribute to breast cancer-susceptibility

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12 December 2020

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

1 reference

12 December 2020

Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase

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12 December 2020

ATM is usually rearranged in T-cell prolymphocytic leukaemia.

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12 December 2020

Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic

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12 December 2020

A STUDY OF THE BRONCHIAL AND VASCULAR STRUCTURES OF A LUNG: FROM A CASE OF ATAXIA-TELANGIECTASIA

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12 December 2020

Ataxia-telangiectasia with a 32 year survival. A clinicopathological report

1 reference

12 December 2020

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

1 reference

12 December 2020

Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain

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12 December 2020

Anti-oxidative capacity in patients with ataxia telangiectasia

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12 December 2020

A new chromosomal instability disorder: the Nijmegen breakage syndrome

1 reference

12 December 2020

The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes.

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12 December 2020

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia

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12 December 2020

Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system

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12 December 2020

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

1 reference

12 December 2020

IgG2 deficiency in ataxia-telangiectasia

1 reference

12 December 2020

Loss of heterozygosity at 11q23.1 and survival in breast cancer: results of a large European study. Breast Cancer Somatic Genetics Consortium

1 reference

12 December 2020

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

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12 December 2020

Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect

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12 December 2020

Imparied glutathione biosynthesis in cultured human ataxia-telangiectasia cells

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12 December 2020

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype

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12 December 2020

Ataxia-telangiectasia and cellular responses to DNA damage.

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12 December 2020

Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development.

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12 December 2020

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

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12 December 2020

Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals

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12 December 2020

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

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12 December 2020

Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis

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12 December 2020

[Ataxiatelangiectasis. (7 personal cases)]

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12 December 2020

Radioresistant DNA synthesis and human genetic diseases

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12 December 2020

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

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12 December 2020

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

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12 December 2020

Duplication of ATR inhibits MyoD, induces aneuploidy and eliminates radiation-induced G1 arrest

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12 December 2020

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

1 reference

12 December 2020

The role of ataxia-telangiectasia heterozygotes in familial breast cancer

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12 December 2020

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

1 reference

12 December 2020

ATM mutations in B-cell chronic lymphocytic leukemia.

1 reference

12 December 2020

Occurrence of malignancy in immunodeficiency diseases. A literature review

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12 December 2020

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations

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12 December 2020

Identification of germline missense mutations and rare allelic variants in theATM gene in early-onset breast cancer

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12 December 2020

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia

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12 December 2020

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

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12 December 2020

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

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12 December 2020

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

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12 December 2020

Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia

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12 December 2020

Eighth International Workshop on Ataxia-Telangiectasia (ATW8)

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12 December 2020

Loss of atm radiosensitizes multiple p53 null tissues

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12 December 2020

Degeneration of neurons, synapses, and neuropil and glial activation in a murine Atm knockout model of ataxia-telangiectasia.

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12 December 2020

A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK.

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12 December 2020

A Haplotype Common to Intermediate Radiosensitivity Variants of Ataxia-telangiectasia in the UK.

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12 December 2020

Identifiers

DOI

10.1385/CRIAI:20:1:87

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Dimensions Publication ID

31 July 2017

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