List of works - Yasunari Sakai

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

scientific article published on 17 March 2014

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

scientific article published on 18 September 2017

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

scientific article published on 3 March 2018

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

scientific journal article

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

scientific article published on 14 October 2016

A nationwide survey of pediatric-onset Japanese encephalitis in Japan

scientific article published on 01 May 2019

A novel transfection method for mammalian cells using gas plasma.

scientific article published on 10 October 2005

A pediatric case with prostaglandin I-associated thyrotoxicosis: Case report and the literature review

article

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention.

scientific article

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

scientific article published on 15 February 2016

Altered strategy in short-term memory for pictures in children with attention-deficit/hyperactivity disorder: a near-infrared spectroscopy study.

scientific article published on 2 May 2014

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

scientific article

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

scientific article published in November 2008

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

scientific article published on 23 February 2018

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

scientific article published on 22 June 2017

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.

scientific article published on 27 February 2018

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

scientific article published on 01 August 2018

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

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

scientific article published in 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

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

Decision-making dilemmas of paediatricians: a qualitative study in Japan

scientific article published on 19 August 2019

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

article

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.

scientific article

Disappearance of globus pallidum lesions in T1-weighted magnetic resonance images after ligation of congenital portosystemic venous shunt

scientific article published on 10 May 2017

Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study.

scientific article published on 24 October 2017

Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases

scientific article published on 09 July 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

Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt.

scientific article

Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis.

scientific article published in February 2004

GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons

scientific article published on 27 October 2020

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

scientific article published on 01 July 2005

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

scientific article published on 01 August 2005

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

scientific article published on 12 June 2013

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

scientific article (publication date: 2016)

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

scientific article

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

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

scientific article published in January 2018

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

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

scientific article published on 4 December 2008

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

scientific journal article

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

scientific article

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

scientific article

Kawasaki disease: a matter of innate immunity.

scientific article

Leucine-rich alpha-2 glycoprotein in the cerebrospinal fluid is a potential inflammatory biomarker for meningitis

scientific article published on 10 July 2018

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

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

Molecular genetic analysis of 30 families with Joubert syndrome

scientific article published on 19 July 2016

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

scientific journal article

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

scientific journal article

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

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

scientific article

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis

scientific article

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

scientific article published in October 2011

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

scientific article

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

scientific article published on 13 May 2015

Predictive indicators for the development of epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion.

scientific article

Protein interactome reveals converging molecular pathways among autism disorders

scientific article

Radiotherapy for Langerhans cell histiocytosis with paraplegia: A rare oncologic emergency case report in infancy and literature review

scientific article published on 12 June 2018

Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

scientific article published in 2024

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

scientific article (publication date: 24 May 2002)

Sustained endocrine profiles of a girl with WAGR syndrome

scientific article published on 23 October 2017

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

scientific article

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

scientific article

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

scientific article published on 27 February 2020

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

scientific article published on 13 April 2017

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

scientific article published on 01 November 1999

List of works by Yasunari Sakai

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

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

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

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

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

A nationwide survey of pediatric-onset Japanese encephalitis in Japan

A novel transfection method for mammalian cells using gas plasma.

A pediatric case with prostaglandin I-associated thyrotoxicosis: Case report and the literature review

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention.

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

Altered strategy in short-term memory for pictures in children with attention-deficit/hyperactivity disorder: a near-infrared spectroscopy study.

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

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

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

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

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.

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

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

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

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

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

Decision-making dilemmas of paediatricians: a qualitative study in Japan

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

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.

Disappearance of globus pallidum lesions in T1-weighted magnetic resonance images after ligation of congenital portosystemic venous shunt

Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study.

Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases

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

Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt.

Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis.

GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons

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

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

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

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

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

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

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

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

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

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

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

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

Kawasaki disease: a matter of innate immunity.

Leucine-rich alpha-2 glycoprotein in the cerebrospinal fluid is a potential inflammatory biomarker for meningitis

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

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

Molecular genetic analysis of 30 families with Joubert syndrome

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

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

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

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis

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

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

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

Predictive indicators for the development of epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion.

Protein interactome reveals converging molecular pathways among autism disorders

Radiotherapy for Langerhans cell histiocytosis with paraplegia: A rare oncologic emergency case report in infancy and literature review

Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

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

Sustained endocrine profiles of a girl with WAGR syndrome

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

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

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

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

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