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Medicine - Pathology | Ataxia-Telangiectasia

Ataxia-Telangiectasia

Proceedings of the NATO Advanced Research Workshop on Ataxia-Telangiectasia, held at Newport Beach, CA, USA, May 17-20, 1992

Series: Nato ASI Subseries H:, Vol. 77

Gatti, Richard A., Painter, Robert B. (Eds.)

Softcover reprint of the original 1st ed. 1993, XXIII, 283 pp.

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  • About this book

Ataxia-telangiectasia or A-T is a fatal progressive neurological disease of children. The symptoms indicate disruptions in the development of such diverse body parts as cerebellum, thymus and chromosomes. The patients are unduly sensitive to ionizing radiation, immunodeficient, and a third of them develops cancer. All of this stems from defects of a single gene. Provided here is an up-to-date review of all important work in thefield. A wide spectrum of topics is covered, namely genetics, chromosome 11 mapping, radiobiology, complementation, heterozygote identification, clinical variants, biochemistry, and treatment of A-T.

Content Level » Research

Keywords » Ataxia-Telangiectasia - Cancer Research - Cerebellar Ataxia - Chromosom - Gendefekt - Gene Defect - Immunodeficiency - Immunschwäche - Krebsforschung - Neuropathologie - Radiosensitivity - Strahlenempfindlichkeit - genetics

Related subjects » Cancer Research - Human Genetics - Immunology - Oncology & Hematology - Pathology

Table of contents 

I. Introduction.- Brief Historical Overview.- II. Isolation of A-T Gene(S).- Cloning and characterization of a candidate gene for A-T complementation Group D.- Precise localization of a gene responsible for ataxiatelangiectasia on chromosome 11q.- How many A-T genes?.- Isolation of human cDNAs that complement the ataxiatelangiectasia phenotype in cultured fibroblasts.- Complementation of the cellular A-T phenotype by gene transfer.- Use of microcell hybrids for analysis of the 11q23 region and improved localization of the A-T Group A/C genes.- AT-like radiosensitive rodent cell mutants: an alternative approach to the isolation of the A-T gene(s).- III. A-T Heterozygotes and Complementation.- Identification of A-T heterozygotes.- Correction of post-gamma ray DNA repair deficiency in ataxiatelangiectasia complementation group A fibroblasts by cocultivation with normal fibroblasts.- The A-T gene does not make a major contribution to familial breast cancer.- Mammography screening for A-T heterozygotes.- IV. Defining the A-T Defect.- Lymphoid V(D)J recombination: accessibility and reaction fidelity in normal and ataxia-telangiectasia cells.- Murine scid cells and human ataxia-telangiectasia cells complement each other’s radiosensitivity.- Ataxia-telangiectasia: defective in a p53-dependent signal transduction pathway.- DNA recombination in the transgenic mouse brain.- V. A-T Variants.- Clinical variants of ataxia-telangiectasia.- Epidemiology of ataxia-telangiectasia in Italy.- Epidemiology of ataxia-telangiectasia in Costa Rica.- Clinical and cellular heterogeneity in ataxia-telangiectasia.- VI. Overviews.- Biochemical defects in ataxia-telangiectasia.- Radiobiology of ataxia-telangiectasia.- Treatment of ataxia-telangiectasia.

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