【Academic Papers】
・TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS ( MVA) syndrome, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 111(4), 1461-1466, 20140128
・Xist expression from an Xist YAC transgene carried on the Mouse Y chromosome, Human molecular genetics, 5(4), 451-459, 19960401
・Genetic Mapping using Microcell-mediated chromosome transfer suggests a Locus for Nijmegen Breakage syndrome at Chromosome 8q21-24, American Journal of Human Genetics, 60(6), 1487, 19970401
【Education】
We give a lecture on human genetics to medical students, a lecture on integrated radiation medical science to postgraduate students, and a lecture to phoenix leading program students.
【Research】
The purpose of our research group is to identify underlying genes for rare genetic disorders and to elucidate their functions. Following research projects are being carried out.
1.Molecular mechanism of carcinogenesis due to chromosome instability.
2.Molecular and cellular basis of primary microcephaly.
3.Molecular and cellular basis of human ciliopathy.
4.Identification of genetic factors responsible for individual differences in radiosensitivity.