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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
TLDR
Results indicate that RNF213 is the first identified susceptibility gene for MMD, and it is confirmed that mature lymphocytes express higher levels of Rnf213 mRNA than their immature counterparts. Expand
Subgroup-specific structural variation across 1,000 medulloblastoma genomes
TLDR
Somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas are reported, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Groups 4, which suggest future avenues for rational, targeted therapy. Expand
Cortical sensory map rearrangement after spinal cord injury: fMRI responses linked to Nogo signalling.
TLDR
The results demonstrate that cortical neurons react to sensory deprivation by decreasing transcriptional activities of genes encoding the Nogo receptor components in the sensory deprived and the anatomically adjacent non-deprived area, suggesting an involvement of Nogo signalling in cortical activity-dependent plasticity in the somatosensory system. Expand
Analysis of IDH1 and IDH2 mutations in Japanese glioma patients
TLDR
The data suggest that IDH1 or IDH2 mutation plays a role in early tumor progression of several types of glioma and might arise from a common glial precursor and some subtypes are genetically distinct entities from other glial tumors. Expand
Cytogenetic prognostication within medulloblastoma subgroups.
TLDR
A small panel of cytogenetic biomarkers is identified that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials. Expand
Incidence and risk factors for symptomatic cerebral hyperperfusion after superficial temporal artery-middle cerebral artery anastomosis in patients with moyamoya disease.
TLDR
The STA-MCA anastomosis is a safe and effective treatment of moyamoya disease, although adult-onset and/or hemorrhagic-ONSet patients had higher risk for symptomatic hyperperfusion. Expand
Glutamate triggers internucleosomal DNA cleavage in neuronal cells.
TLDR
The results suggest that the glutamate neurotoxicity involves an active suicide process which leads to neuronal death through internucleosomal DNA cleavage. Expand
Temporary neurologic deterioration due to cerebral hyperperfusion after superficial temporal artery-middle cerebral artery anastomosis in patients with adult-onset moyamoya disease.
TLDR
Surgical revascularization including STA-MCA anastomosis is a safe and effective treatment for moyamoya disease, although temporary neurologic deterioration due to hyperperfusion could occur at a substantial rate. Expand
A proposed parent vessel geometry-based categorization of saccular intracranial aneurysms: computational flow dynamics analysis of the risk factors for lesion rupture.
TLDR
A simple, broadly applicable classification of saccular intracranial aneurysms into three categories: sidewall (SW), sidewall with branching vessel (SWBV), and endwall (EW) according to the angiographically documented patterns of their parent arteries may provide a promising means of understanding the natural history of sACCs. Expand
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
TLDR
It is suggested that loss-of-function mutations in GCS genes predispose to NTDs in mice and humans, and the importance of adequate function of mitochondrial folate metabolism in neural tube closure is highlighted. Expand
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