Hirofumi Kurata

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Dihydropyrazine (DHP), which induces mutagenesis in E. coli, was investigated. From analyzing mutations in the chromosomal rpoB gene, the mutation spectrum in uvrB strain revealed the different behavior on exposure to two DHP derivatives 3-hydro-2,2,5,6-tetramethylpyrazine (HTMP), and 2,3-dihydro-5,6-dimethylpyrazine (DHDMP). A higher level of DHP-induced(More)
Mutations in SPATA5 have recently been shown to result in a phenotype of microcephaly, intellectual disability, seizures, and hearing loss in childhood. Our aim in this report is to delineate the SPATA5 syndrome as a clinical entity, including the facial appearance, neurophysiological, and neuroimaging findings. Using whole-exome sequencing and Sanger(More)
of two molecules of D-glucosamine, and some have DNA strand-cleaving activity in vitro. DHPs generate hydroxyl and carbon-centered radicals, the reactive species responsible for DNA strand-cleaving reactions in vitro. In addition, highly reactive DHPs enter into a diamine-exchange reaction, and some of the products also cause DNA strand breakage in vitro.(More)
c-jun, a major component of AP-1 transcription factor, has a wide variety of functions. In the embryonic brain, c-jun mRNA is abundantly expressed in germinal layers around the ventricles. Although the subventricular zone (SVZ) of the adult brain is a derivative of embryonic germinal layers and contains neural precursor cells (NPCs), the c-jun expression(More)
PURPOSE To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN(More)
We describe two cases of primary angiitis of the central nervous system in children (cPACNS) diagnosed by vessel wall contrast enhancement on magnetic resonance imaging (MRI). Both patients developed acute cerebral infarction after fever and malaise. In patient 1, a 7-month-old boy, MRI revealed extensive cerebral infarction in the right middle cerebral(More)
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