Assaying Radiosensitivity of Ataxia-Telangiectasia View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2017

AUTHORS

Hailiang Hu , Shareef Nahas , Richard A. Gatti

ABSTRACT

Ataxia-Telangiectasia (A-T) is a prototypical genomic instability disorder with multi-organ deficiency and it is caused by the defective function of a single gene, ATM (Ataxia-Telangiectasia Mutated). Radiosensitivity, among the pleiotropic symptoms of A-T, reflects the basic physiological functions of ATM protein in the double strand break (DSB)-induced DNA damage response (DDR) and also restrains A-T patients from the conventional radiation therapy for their lymphoid malignancy. In this chapter, we describe two methods that have been developed in our lab to assess the radiosensitivity of A-T patients: (1) Colony Survival Assay (CSA) and (2) Flow Cytometry of phospho-SMC1 (FC-pSMC1). The establishment of these more rapid and reliable functional assays to measure the radiosensitivity, exemplified by A-T, would facilitate the diagnosis of other genomic instability genetic disorders as well as help the treatment options for most radiosensitive patients. More... »

PAGES

1-11

References to SciGraph publications

  • 1988-12. Localization of an ataxia-telangiectasia gene to chromosome 11q22–23 in NATURE
  • 2001-02. The pathogenesis of ataxia-telangiectasia in CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
  • Identifiers

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    http://scigraph.springernature.com/pub.10.1007/978-1-4939-6955-5_1

    DOI

    http://dx.doi.org/10.1007/978-1-4939-6955-5_1

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1085194577

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28477107


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