TY - GEN AU - Oguchi,Kaoru AU - Takagi,Masatoshi AU - Tsuchida,Rika AU - Taya,Yoichi AU - Ito,Etsuro AU - Isoyama,Keiichi AU - Ishii,Eiichi AU - Zannini,Laura AU - Delia,Domenico AU - Mizutani,Shuki TI - Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement SN - 0006-4971 PY - 2003///0620 KW - Ataxia Telangiectasia KW - pathology KW - Ataxia Telangiectasia Mutated Proteins KW - Bone Neoplasms KW - Cell Cycle Proteins KW - Cell Line KW - radiation effects KW - Cell Transformation, Neoplastic KW - genetics KW - Chromosomes, Human, Pair 11 KW - DNA Mutational Analysis KW - DNA, Neoplasm KW - DNA-Binding Proteins KW - Female KW - Genes, Dominant KW - Genetic Complementation Test KW - Germ-Line Mutation KW - Histone-Lysine N-Methyltransferase KW - Humans KW - Infant KW - Leukemia, Monocytic, Acute KW - Male KW - Mutation, Missense KW - Myeloid-Lymphoid Leukemia Protein KW - Osteosarcoma KW - Phosphatidylinositol 3-Kinases KW - metabolism KW - Phosphorylation KW - Precursor Cell Lymphoblastic Leukemia-Lymphoma KW - Protein Processing, Post-Translational KW - Protein Serine-Threonine Kinases KW - Protein Structure, Tertiary KW - Proto-Oncogenes KW - Radiation Tolerance KW - Signal Transduction KW - Transcription Factors KW - Translocation, Genetic KW - Tumor Cells, Cultured KW - Tumor Suppressor Protein p53 KW - Tumor Suppressor Proteins N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1182/blood-2002-02-0570 ER -