• Intellectual Disability
    • Naomichi Matsumoto
    • Naomichi Matsumoto: Influence Statistics

      Naomichi Matsumoto

      Naomichi Matsumoto

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      Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. | Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, ...

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      Naomichi Matsumoto:Expert Impact

      Concepts for whichNaomichi Matsumotohas direct influence:Intellectual disability,Situ hybridization,Exome sequencing,West syndrome,Sotos syndrome,Developmental delay,Kabuki syndrome,Epileptic encephalopathy.

      Naomichi Matsumoto:KOL impact

      Concepts related to the work of other authors for whichfor which Naomichi Matsumoto has influence:Intellectual disability,Kabuki syndrome,Exome sequencing,Gene expression,Autophagic flux,Cell death,Moyamoya disease.

      KOL Resume for Naomichi Matsumoto


      Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.


      Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan


      Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.

      Yokohama City University Graduate School of Medicine, 236-0004, Yokohama, Japan


      Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan


      Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan


      Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan


      Yokohama City University Graduate School of Medicine Department of Human Genetics Japan


      Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Kanagawa, Japan


      Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3–9 Fukuura, 236–0004, Kanazawa-kuYokohama, Japan

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      Sample of concepts for which Naomichi Matsumoto is among the top experts in the world.
      Concept World rank
      sepsecs mutations #1
      pv489d #1
      exomefirst approach #1
      c301303del #1
      c772tc #1
      infantile epilepsy study #1
      c689a #1
      c176tc #1
      pmpcb #1
      niid patients #1
      sotoslike features #1
      unrelated patients study #1
      72241 #1
      cterminal nsd1 #1
      fgf12 duplication #1
      c556ga #1
      nup107 mutations individuals #1
      japanese microcephaly #1
      patient clcn2 mutation #1
      asp100tyr #1
      suspected ocular albinism #1
      mild elevation alp #1
      corpus callosal thinning #1
      vatpase neuronal development #1
      study tbx6 variants #1
      ndd hypertonia #1
      quinidine therapy #1
      patients eoees #1
      ck2 individuals #1
      epileptic encephalopathy dnm1 #1
      eeg kcnq2 mutations #1
      arg756cys #1
      smarca4 arid1b #1
      c616 #1
      cc2l clcn2 #1
      atp10a methylation genome #1
      patients app duplication #1
      sca31 nagano #1
      pglu308glyfs2 #1
      infantile exome sequencing #1
      nmd region sema6b #1
      patients acox1 deficiency #1
      human haplotypes hernia #1
      stag2 abnormalities case #1
      insertion size #1
      syndromic aad resat #1
      csnk2a1 csnk2b #1
      novo kcnt1 #1
      wes pathogenic mutations #1
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      Prominent publications by Naomichi Matsumoto

      KOL-Index: 13481

      Classical lissencephaly (LIS) is a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation. Deletions or mutations of LIS1 on 17p13.3 and mutations in XLIS ( DCX ) on Xq22.3-q23 produce LIS. Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization. Mutations of LIS1 were found by sequencing ( n = 8) and Southern blot ( n = 2) in a total of 10 patients (40%) of ...

      Known for Classical Lissencephaly | Mutations Lis1 | Brain Malformation | Mental Retardation | Situ Hybridization
      KOL-Index: 13303

      The mouse insulin-like growth factor II receptor (Igf2r) gene and its antisense transcript Air are reciprocally imprinted in most tissues, but in the brain, Igf2r is biallelically expressed despite the imprinted Air expression. To investigate the molecular mechanisms of such brain-specific relaxation of Igf2r imprinting, we analyzed its expression and epigenetic modifications in neurons, glial cells and fibroblasts by the use of primary cortical cell cultures. In glial cells and ...

      Known for Igf2r Imprinting | Glial Cells | Histone Modifications | Antisense Transcript | Dna Methylation
      KOL-Index: 13096

      Subcortical band heterotopia (SBH) are bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface, which comprises the less severe end of the lissencephaly (agyria-pachygyria-band) spectrum of malformations. Mutations in DCX (also known as XLIS ) have previously been described in females with SBH. We have now identified mutations in either the DCX or LIS1 gene in three of 11 boys studied, demonstrating for the first ...

      Known for Subcortical Band Heterotopia | Missense Mutations | Dcx Lis1 | Sbh Males | Gray Matter
      KOL-Index: 13067

      Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or ...

      Known for Kdm6a Mutations | Kabuki Syndrome | Mutation Mll2 | Facial Features | Intellectual Disability
      KOL-Index: 12650

      Congenital hypomyelinating disorders are a heterogeneous group of inherited leukoencephalopathies characterized by abnormal myelin formation. We have recently reported a hypomyelinating syndrome characterized by diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). We performed whole-exome sequencing of three unrelated individuals with HCAHC and identified compound heterozygous mutations in POLR3B in two individuals. The mutations include ...

      Known for Rna Polymerase | Pol Iii | Corpus Callosum | Recessive Genetic Predisposition | Missense Mutations
      KOL-Index: 12449

      Sotos syndrome is characterized by prenatal and postnatal overgrowth, characteristic craniofacial features and mental retardation. Haploinsufficiency of NSD1 causes Sotos syndrome. Recently, two microdeletions encompassing Nuclear Factor I-X (NFIX) and a nonsense mutation in NFIX have been found in three individuals with Sotos-like overgrowth features, suggesting possible involvements of NFIX abnormalities in Sotos-like features. Interestingly, seven frameshift and two splice site ...

      Known for Missense Mutations | Sotos Syndrome | Nfix Protein | Dimerization Domain | Nsd1 Abnormalities
      KOL-Index: 12391

      OBJECTIVE: Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations.

      METHODS: We screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients with schizencephaly, which may be similarly caused by disturbed vascular supply leading to cerebral degeneration, but can be ...

      Known for Col4a1 Mutations | Phenotypic Spectrum | Porencephaly Schizencephaly | Hemolytic Anemia | Intracranial Calcification
      KOL-Index: 12246

      Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs), and all are inherited as recessive traits. IGDs mainly manifest as intellectual disability, epilepsy, coarse facial features, and multiple organ anomalies. These symptoms are caused by the ...

      Known for Intellectual Disability | Pathogenic Variants | Gpi Pigg | Consanguineous Families | Cell Surface
      KOL-Index: 12192

      BACKGROUND: To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive ophthalmoplegia affecting muscles in the oculomotor and trochlear nerve distribution. Individuals with the classic form of CFEOM are born with bilateral ptosis and infraducted globes. When all affected members of a family have classic CFEOM, we classify the family as a ...

      Known for Congenital Fibrosis | Classic Cfeom | Linkage Feom1 | Extraocular Muscles | Genetic Basis
      KOL-Index: 12096

      OBJECTIVE: Focal cortical dysplasia (FCD) type IIb is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, and balloon cells. It has been suggested that FCDs are caused by somatic mutations in cells in the developing brain. Here, we explore the possible involvement of somatic mutations in FCD type IIb.

      METHODS: We collected a total of 24 blood-brain paired samples with FCD, including 13 individuals with FCD type IIb, 5 with type IIa, and 6 ...

      Known for Somatic Mutations | Type Iib | Focal Cortical Dysplasia | Cortical Development | Mtor Fcd
      KOL-Index: 12075

      IMPORTANCE: Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified.

      OBJECTIVE: To identify the causative gene of SCA in 2 Japanese families with distinct neurological symptoms and radiological presentations.

      DESIGN, SETTING, AND PARTICIPANTS: Clinical genetic study at a referral center of 11 members from 2 Japanese families, which started in 1997.

      MAIN ...

      Known for Spinocerebellar Ataxia | Mutations Elovl4 | Hot Cross | Bun Sign | Erythrokeratodermia Variabilis
      KOL-Index: 11857

      Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. We detail here the genotype-phenotype correlations for 85 previously published and one additional patient with mutations in the SWI/SNF complex: four with SMARCB1 mutations, seven with SMARCA4 mutations, 37 with SMARCA2 ...

      Known for Arid1b Mutations | Disassembly Chromosomal Proteins | Congenital Humans | Swi Snf Complex | Ncbrs Css
      KOL-Index: 11686

      OBJECTIVE: Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations.

      METHODS: Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset ...

      Known for Grin1 Mutations | Movement Disorders | Patients Epileptic Encephalopathy | Intellectual Disability | Phenotypic Spectrum
      KOL-Index: 11555

      Sotos syndrome (SoS) is an autosomal dominant overgrowth syndrome with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined. Since the first report, an additional 70 SoS cases consisting of 53 Japanese and 17 non-Japanese have been analyzed. We found ...

      Known for Common Deletion | Sotos Syndrome | Low Copy Repeats | Situ Hybridization | Nsd1 Gene
      KOL-Index: 11362

      Mouse Grb10 is a tissue-specific imprinted gene with promoter-specific expression. In most tissues, Grb10 is expressed exclusively from the major-type promoter of the maternal allele, whereas in the brain, it is expressed predominantly from the brain type promoter of the paternal allele. Such reciprocally imprinted expression in the brain and other tissues is thought to be regulated by DNA methylation and the Polycomb group (PcG) protein Eed. To investigate how DNA methylation and ...

      Known for Dna Methylation | Specific Imprinting | Grb10 Expression | Paternal Allele | Brain Tissues

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      Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. | Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan | Department of Human Genetics, Yokohama City University Graduate Sc

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