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An oxidized purine nucleoside triphosphatase, MTH1, suppresses cell death caused by oxidative stressHyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in miceMoyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cellsA molecular basis for the selective recognition of 2-hydroxy-dATP and 8-oxo-dGTP by human MTH1Role of tryptophan residues in the recognition of mutagenic oxidized nucleotides by human antimutator MTH1 proteinPD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitisMutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeKawasaki disease: a matter of innate immunity.Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder.Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilmsSystemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.Protein interactome reveals converging molecular pathways among autism disorders.Activation of Nod1 Signaling Induces Fetal Growth Restriction and Death through Fetal and Maternal VasculopathyPhenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.A nationwide survey of pediatric acquired demyelinating syndromes in Japan.Calcineurin inhibitors exacerbate coronary arteritis via the MyD88 signalling pathway in a murine model of Kawasaki disease.De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion.De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.A novel transfection method for mammalian cells using gas plasma.Interleukin-10 is associated with resistance to febrile seizures: genetic association and experimental animal studies.Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.Molecular genetic analysis of 30 families with Joubert syndrome.A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemiaDysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study.Sustained endocrine profiles of a girl with WAGR syndromeCorrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy.Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.Longitudinal study of very low birth weight infants until 9years of age; attention deficit hyperactivity and autistic features are correlated with their cognitive functions.Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt.De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Yasunari Sakai
@ast
Yasunari Sakai
@en
Yasunari Sakai
@es
Yasunari Sakai
@nl
type
label
Yasunari Sakai
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Yasunari Sakai
@en
Yasunari Sakai
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Yasunari Sakai
@nl
prefLabel
Yasunari Sakai
@ast
Yasunari Sakai
@en
Yasunari Sakai
@es
Yasunari Sakai
@nl
P106
P1153
7403480813
P31
P496
0000-0002-5747-8692