Yasunari Sakai

To uncover shared pathogenic mechanisms among the highly heterogeneous autism spectrum disorders (ASDs), we developed a protein interaction network that identified hundreds of new interactions among proteins encoded by ASD-associated genes. We discovered unexpectedly high connectivity between SHANK and TSC1, previously implicated in syndromic autism, suggesting that common molecular pathways underlie autistic phenotypes in distinct syndromes. ASD patients were more likely to harbor copy number v

The model potential method proposed by Bonifacic and Huzinaga in 1974 is unique among various effective core potential methods in that it is capable of producing the pseudovalence orbitals with the proper nodal structure. This unique feature of the method has now been fully exploited and implemented by improving the process of determination of the model potential parameters and the valence orbital basis functions. The present article includes a general exposition of the method and the applicatio

Kawasaki disease (KD) is an acute systemic vasculitis of an unknown aetiology. A small proportion of children exposed to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) or infected by <i>Yersinia</i> reproducibly develop principal symptoms of KD in various ethnic areas, but not in all studies. These microbes provoke a rapid cell-damaging process, called 'pyroptosis', which is characterised by a subsequent release of proinflammatory cellular components from damaged endothelial and in

MTH1 hydrolyzes oxidized purine nucleoside triphosphates such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP to monophosphates, and thus avoids errors caused by their misincorporation during DNA replication or transcription, which may result in carcinogenesis or neurodegeneration. This substrate specificity for oxidized purine nucleoside triphosphates was investigated by mutation analyses based on the sequence comparison with the Escherichia coli homolog, MutT, which hydrolyzes on

The model potential method is applied to CO, HCl, P2, Cl2, SH2, Cu2, Br2, Ni(CO)4, and Pd(CO)4. The results are generally very satisfactory. Reduction of computing cost is substantial for molecules containing heavy atoms.

Developmental and epileptic encephalopathy (DEE) represents a group of neurodevelopmental disorders characterized by infantile-onset intractable seizures and unfavorable prognosis of psychomotor development. To date, hundreds of genes have been linked to the onset of DEE. GNAO1 is a DEE-associated gene encoding the alpha-O1 subunit of guanine nucleotide-binding protein (Gα_O ). Despite the increasing number of reported children with GNAO1 encephalopathy, the molecular mechanisms underl

Significant improvements are introduced in the process of determining the model potential parameters and truncating the basis sets in Bonifacic and Huzinaga’s model potential. The pseudovalence orbitals can simulate closely the shapes of the reference atomic valence orbitals given by all-electron calculations including the inner nodes. Test molecular calculations are carried out for CO, HCl, P2, and Cl2. The model potential developed by the present author yields molecular orbital energies, atomi

These observations suggest that IFN-alpha is useful in managing CAEBV, possibly restraining the clonal development of T-lymphoproliferative disease (LPD) and EBV-associated B-LPD, although it does not eradicate the proliferation of EBV.

This is the second case of EOEE caused by a de novo truncating mutation of TRIM8. Further studies are required to determine the functional roles of TRIM8 in the postnatal development of the human brain and its functional relationships with other EOEE-associated genes.

These data suggest that inflammatory signals activated by oxidized phospholipids are involved in the pathogenesis of coronary arteritis in KD. Because the present study recruited only Japanese patients, further examinations are required to determine whether oxidized PCs might be useful biomarkers for the development of coronary arteritis in broad populations of KD.

We report 2 children (patients 1 and 2) with Kearns-Sayre syndrome and 1 (patient 3) with Leigh syndrome, who underwent serial diffusion-weighted MR imaging (DWI) studies for 2.8 (patient 1), 4.2 (patient 2), and 1.0 years (patient 3). The DWI revealed the persistent hyperintense signals in the pontine and mesencephalic tegmenta. The apparent diffusion coefficient in the affected regions remained constantly low, suggesting that cytotoxic edema and spongiform degenerations may compose these brain