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    • Congenital Cataract
    • Kiyomi Nishiyama
    • Kiyomi Nishiyama: Influence Statistics

      Kiyomi Nishiyama

      Kiyomi Nishiyama

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

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      Kiyomi Nishiyama:Expert Impact

      Concepts for whichKiyomi Nishiyamahas direct influence:Congenital cataract,Vermis atrophy,Novo mutations,Stxbp1 mutations,Missense mutations,Targeted capture,Epileptic encephalopathy,Severe intellectual disability.

      Kiyomi Nishiyama:KOL impact

      Concepts related to the work of other authors for whichfor which Kiyomi Nishiyama has influence:Intellectual disability,Epileptic encephalopathy,Developmental delay,Exome sequencing,Infantile spasms,Novo mutations,Ohtahara syndrome.

      KOL Resume for Kiyomi Nishiyama

      Year
      2014

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

      2013

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

      2012

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

      2011

      Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa‐ku, Yokohama, Japan

      2010

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

      2008

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

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      Sample of concepts for which Kiyomi Nishiyama is among the top experts in the world.
      Concept World rank
      severe hypomyelination #3
      infantile carrier proteins #3
      pe2270del #3
      involving cdkl5 #3
      c66196621delgag #3
      coloboma‐like optic #3
      sptan1 mutation #3
      discs sptan1 #3
      segmental myoclonic jerks #3
      infantile carrier #3
      molecular electroencephalography #3
      alphaiispectrin sptan1 gene #3
      proteins spasms #4
      japanese cdkl5 #4
      genomic microarray microdeletion #4
      t515q133q261 #4
      cdkl5 deletions #4
      microdeletion cdkl5 #4
      rs1 ppef1 gene #4
      cdkl5 deletion analyses #4
      5q143 translocation #4
      mosaicism stxbp1 #4
      1215‐kb upstream #4
      severe psychomotor disability #4
      eoees mutations #4
      stxbp1 ohtahara #4
      genetic testing cdkl5 #4
      situ hybridization imaging #4
      novo 137kb deletion #4
      hypotonia developmental regression #4
      ppef1 gene #4
      phone light stimuli #4
      abnormalities sotos #5
      stxbp1 proteins spasms #5
      fallot cask #5
      cask fallot #5
      nfix abnormalities #5
      c362gc #5
      domain nfix #5
      nfix nonsense mutation #5
      missense spasms #5
      mutations nfix #5
      fallot epilepsies #5
      rett syndromelike features #5
      sptan1 mutations #5
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      Prominent publications by Kiyomi Nishiyama

      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: 10590

      OBJECTIVE: De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven patients with de novo heterozygous SCN8A mutations, which were found in our comprehensive genetic analysis (target capture or whole-exome sequencing) for early onset epileptic encephalopathies (EOEEs).

      METHODS: A total of 163 patients with EOEEs without mutations in known genes, including 6 with malignant migrating partial seizures in infancy (MMPSI), and 60 with ...

      Known for Scn8a Mutations | Epileptic Encephalopathy | Early Onset | Epilepsy Female Humans | 7 Patients
      KOL-Index: 10181

      Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy1. Using array-based comparative genomic hybridization, we found a de novo 2.0-Mb microdeletion at 9q33.3–q34.11 in a girl with EIEE. Mutation analysis of candidate genes mapped to the deletion revealed that four unrelated individuals with EIEE had heterozygous missense mutations in the gene encoding syntaxin binding protein 1 ...

      Known for Novo Mutations | Stxbp1 Eiee | Proteins Mutation | Early Infantile | Situ Hybridization
      KOL-Index: 10039

      Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy. Two of the affected individuals also showed involuntary movements. Somatic mosaicism (approximately 35% ...

      Known for Epileptic Encephalopathy | Novo Mutations | Heterotrimeric Proteins | Gαo Subunit | Involuntary Movements
      KOL-Index: 9918

      PURPOSE: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy with suppression-burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects with STXBP1 mutations, and to examine their biologic aspects.

      METHODS: STXBP1 was analyzed in 29 and 54 cases of cryptogenic EIEE and West syndrome, respectively, as a second cohort. RNA splicing was analyzed in lymphoblastoid cells from a subject harboring a c.663 + 5G>A mutation. ...

      Known for Stxbp1 Mutations | Infantile Epileptic | Proteins Mutation | West Syndrome | Clinical Spectrum
      KOL-Index: 9476

      PURPOSE: KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE). In this study, we aimed to delineate the clinical spectrum of EOEE associated with KCNQ2 mutation.

      METHODS: A total of 239 patients with EOEE, including 51 cases with Ohtahara syndrome and 104 cases with West syndrome, were analyzed by high-resolution melting (HRM) analysis or whole-exome sequencing. Detailed clinical information including ...

      Known for Clinical Spectrum | Kcnq2 Mutation | Early Onset | Ohtahara Syndrome | Tonic Seizures
      KOL-Index: 8625

      PURPOSE: Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. STXBP1 and ARX mutations have been reported in patients with OS. In this study, we aimed to identify new genes involved in OS by copy number analysis and whole exome sequencing.

      METHODS: Copy number analysis and whole exome sequencing were performed in 34 and 12 patients with OS, respectively. Fluorescence in situ hybridization, quantitative polymerase chain reaction (PCR), and breakpoint-specific ...

      Known for Male Patient | Ohtahara Syndrome | Cask Protein | Situ Hybridization | Exome Sequencing
      KOL-Index: 8457

      A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay. Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable). We assumed that another gene ...

      Known for Developmental Delay | Stxbp1 Sptan1 | West Syndrome | Spastic Quadriplegia | Alpha Spectrin
      KOL-Index: 8020

      PURPOSE: Early onset epileptic encephalopathies (EOEEs) are heterogeneous epileptic disorders caused by various abnormalities in causative genes including point mutations and copy number variations (CNVs). In this study, we performed targeted capture and sequencing of a subset of genes to detect point mutations and CNVs simultaneously.

      METHODS: We designed complementary RNA oligonucleotide probes against the coding exons of 35 known and potential candidate genes. We tested 68 unrelated ...

      Known for Targeted Capture | Copy Variations Cnvs | Early Onset | Dna Spasms | Mutations Causing
      KOL-Index: 7839

      Aberrations in the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI-anchor synthesis, and PGAP2, which is involved in fatty-acid GPI-anchor remodeling, are all causative for hyperphosphatasia with mental retardation syndrome (HPMRS). Using whole exome ...

      Known for Alkaline Phosphatase | Intractable Epilepsy | Pigo Mutations | Epileptic Encephalopathy | Severe Developmental Delay
      KOL-Index: 7151

      Oculofaciocardiodental syndrome (OFCD) is an X-linked dominant disorder associated with male lethality, presenting with congenital cataract, dysmorphic face, dental abnormalities and septal heart defects. Mutations in BCOR (encoding BCL-6-interacting corepressor) cause OFCD. Here, we report on a Korean family with common features of OFCD including bilateral 2nd–3rd toe syndactyly and septal heart defects in three affected females (mother and two daughters). Through the mutation screening ...

      Known for Bcor Mutation | Oculofaciocardiodental Syndrome | Heart Septal | Repressor Proteins | Ofcd Linked
      KOL-Index: 7125

      Cerebellar and/or vermis atrophy is recognized in various types of childhood disorders with clinical and genetic heterogeneity. Although careful evaluation of clinical features and neuroimaging can lead to correct diagnosis of disorders, their diagnosis is sometimes difficult because clinical features can overlap with each other. In this study, we performed family-based whole exome sequencing of 23 families including 25 patients with cerebellar and/or vermis atrophy in childhood, who ...

      Known for Vermis Atrophy | Exome Sequencing | Genetic Diagnosis | Pathological Mutations | And Or
      KOL-Index: 7107

      Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. ...

      Known for Rett Syndrome | Iron Deposition | Wdr45 Mutation | Rtt Mecp2 | Substantia Nigra

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

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