TY - JOUR
T1 - Ataxia-telangiectasia
T2 - A multifaceted genetic disorder associated with defective signal transduction
AU - Lavin, Martin F.
AU - Shiloh, Yosef
N1 - Funding Information:
We wish to thank many colleagues for helpful discussion and critical reading of the manuscript. We have attempted to be as inclusive as possible, within the restrictions imposed by the journal, and apologize to colleagues whose work has not been cited. This work was supported by the National Health and Medical Research Council of Australia, the Queensland Cancer Fund, the National Institute of Neurological Disorders and Stroke and the A-T Childrens Project. We thank Kevin Spring for preparing the figure and Ann Knight for typing the manuscript.
PY - 1996/8
Y1 - 1996/8
N2 - The gene responsible for the defect in the human genetic disorder ataxia-telangiectasia, ATM, was cloned recently. The part of the gene coding for a phosphatidylinositol 3-kinase domain showed it to be related to a family of genes involved in signal transduction, cell cycle control and the response to DNA damage. The elucidation of the role of the ATM gene product will provide valuable insight into the radiosensitivity, cancer predisposition, immunodeficiency and neuropathology that characterize this syndrome.
AB - The gene responsible for the defect in the human genetic disorder ataxia-telangiectasia, ATM, was cloned recently. The part of the gene coding for a phosphatidylinositol 3-kinase domain showed it to be related to a family of genes involved in signal transduction, cell cycle control and the response to DNA damage. The elucidation of the role of the ATM gene product will provide valuable insight into the radiosensitivity, cancer predisposition, immunodeficiency and neuropathology that characterize this syndrome.
UR - http://www.scopus.com/inward/record.url?scp=0030218023&partnerID=8YFLogxK
U2 - 10.1016/S0952-7915(96)80030-6
DO - 10.1016/S0952-7915(96)80030-6
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AN - SCOPUS:0030218023
SN - 0952-7915
VL - 8
SP - 459
EP - 464
JO - Current Opinion in Immunology
JF - Current Opinion in Immunology
IS - 4
ER -
