List of works - Yasunari Sakai

Protein interactome reveals converging molecular pathways among autism disorders

scientific article

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

scientific article

An oxidized purine nucleoside triphosphatase, MTH1, suppresses cell death caused by oxidative stress

scientific article

A molecular basis for the selective recognition of 2-hydroxy-dATP and 8-oxo-dGTP by human MTH1

scientific journal article

Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis.

scientific article published in February 2004

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

scientific journal article

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

scientific journal article

Kawasaki disease: a matter of innate immunity.

scientific article

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

scientific article published on 13 May 2015

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

scientific article published in January 2018

Interleukin-10 is associated with resistance to febrile seizures: genetic association and experimental animal studies.

scientific article published on 4 December 2008

Genetic susceptibility to simple febrile seizures: interleukin-1beta promoter polymorphisms are associated with sporadic cases

scientific article published on 01 August 2005

Association of toll-like receptor 3 gene polymorphism with subacute sclerosing panencephalitis

scientific article published in November 2008

Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilms

scientific article

Interferon-alpha therapy for chronic active Epstein-Barr virus infection: potential effect on the development of T-lymphoproliferative disease

scientific article published in July 1998

Molecular genetic analysis of 30 families with Joubert syndrome

scientific article published on 19 July 2016

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

scientific article published on 28 January 2016

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

scientific article

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis

scientific article

A novel transfection method for mammalian cells using gas plasma.

scientific article published on 10 October 2005

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

scientific article (publication date: 2016)

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

scientific article published on 17 March 2014

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

scientific article published on 14 October 2016

Intracellular distribution of the antimutagenic enzyme MTH1 in the liver, kidney and testis of F344 rats and its modulation by cadmium

scientific journal article

Role of tryptophan residues in the recognition of mutagenic oxidized nucleotides by human antimutator MTH1 protein

scientific article (publication date: 24 May 2002)

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.

scientific article

Longitudinal study of very low birth weight infants until 9years of age; attention deficit hyperactivity and autistic features are correlated with their cognitive functions.

scientific article published on 3 October 2015

Calcineurin inhibitors exacerbate coronary arteritis via the MyD88 signalling pathway in a murine model of Kawasaki disease

scientific article published on 22 June 2017

Activation of Nod1 Signaling Induces Fetal Growth Restriction and Death through Fetal and Maternal Vasculopathy

scientific article published on 15 February 2016

Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder

scientific article

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

scientific article published on 15 September 2016

Impaired neurite development associated with mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of children with autism spectrum disorder

scholarly article by Huong Thi Nguyen Nguyen et al published December 2018 in Biochemistry and biophysics reports

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy

scientific article published in July 2016

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.

scientific article published on 12 June 2013

Parental age and child growth and development: child health check-up data.

scientific article published in October 2011

Trisomy 10 in a child with acute nonlymphocytic leukemia followed by relapse with a different clone

scientific article published on 01 November 1999

Gene expression profiles in peripheral blood mononuclear cells from patients with subacute sclerosing panencephalitis using oligonucleotide microarrays

scientific article published on 01 July 2005

Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.

scientific article

Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy

scientific article

Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome.

scientific article published on 10 March 2018

Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion

scientific article published on 13 April 2017

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

scientific article

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

scientific article published on 3 March 2018

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.

scientific article published on 23 November 2017

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.

scientific article

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.

scientific article published on 23 February 2018

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

article

A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia

scientific article published on 18 September 2017

Sustained endocrine profiles of a girl with WAGR syndrome

scientific article published on 23 October 2017

Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

scientific article published on 10 June 2016

List of works by Yasunari Sakai

Protein interactome reveals converging molecular pathways among autism disorders

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

An oxidized purine nucleoside triphosphatase, MTH1, suppresses cell death caused by oxidative stress

A molecular basis for the selective recognition of 2-hydroxy-dATP and 8-oxo-dGTP by human MTH1

Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis.

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

Kawasaki disease: a matter of innate immunity.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Interleukin-10 is associated with resistance to febrile seizures: genetic association and experimental animal studies.

Genetic susceptibility to simple febrile seizures: interleukin-1beta promoter polymorphisms are associated with sporadic cases

Association of toll-like receptor 3 gene polymorphism with subacute sclerosing panencephalitis

Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilms

Interferon-alpha therapy for chronic active Epstein-Barr virus infection: potential effect on the development of T-lymphoproliferative disease

Molecular genetic analysis of 30 families with Joubert syndrome

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis

A novel transfection method for mammalian cells using gas plasma.

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

Intracellular distribution of the antimutagenic enzyme MTH1 in the liver, kidney and testis of F344 rats and its modulation by cadmium

Role of tryptophan residues in the recognition of mutagenic oxidized nucleotides by human antimutator MTH1 protein

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.

Longitudinal study of very low birth weight infants until 9years of age; attention deficit hyperactivity and autistic features are correlated with their cognitive functions.

Calcineurin inhibitors exacerbate coronary arteritis via the MyD88 signalling pathway in a murine model of Kawasaki disease

Activation of Nod1 Signaling Induces Fetal Growth Restriction and Death through Fetal and Maternal Vasculopathy

Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

Impaired neurite development associated with mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of children with autism spectrum disorder

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.

Parental age and child growth and development: child health check-up data.

Trisomy 10 in a child with acute nonlymphocytic leukemia followed by relapse with a different clone

Gene expression profiles in peripheral blood mononuclear cells from patients with subacute sclerosing panencephalitis using oligonucleotide microarrays

Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.

Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy

Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome.

Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia

Sustained endocrine profiles of a girl with WAGR syndrome

Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice