| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2013: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Research Abstract |
Radiation exposure in utero induces severe microcephaly with mental retardation. However, less is known about the molecular and cellular pathology of microcephaly.This study revealed that mutations of the MRE11A gene causes hereditary microcephaly via the aberrant enhancement of ATM-dependent apoptosis. Moreover we demonstrated that the unrelated two patients with Seckel syndrome were compound-heterozygotes of null type mutations of pericentrin gene encoding a centrosome protein, and that G1 phase-arrested population in the patient cells increased by an aberrant activation of p53-p21 pathway. Taken together, these results shed light on the molecular basis of genetic microcephaly.
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