• KOL
    • Congenital Cataract
    • Yukiko Kondo
    • Yukiko Kondo: Influence Statistics

      Yukiko Kondo

      Yukiko Kondo

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

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      Yukiko Kondo:Expert Impact

      Concepts for whichYukiko Kondohas direct influence:Congenital cataract,Novo mutations,Ohtahara syndrome,Bcor mutation,Male patient,Static encephalopathy,4h syndrome,Pathogenic mutations.

      Yukiko Kondo:KOL impact

      Concepts related to the work of other authors for whichfor which Yukiko Kondo has influence:Moyamoya disease,Intellectual disability,Brain iron accumulation,Epileptic encephalopathies,Congenital disorders,Novo mutations,Developmental delay.

      KOL Resume for Yukiko Kondo

      Year
      2013

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

      2012

      Department of Genetics, Advanced Medical Research Center, Yokohama City University, Yokohama, Kanagawa, Japan

      2011

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

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      Sample of concepts for which Yukiko Kondo is among the top experts in the world.
      Concept World rank
      hypomyelination presenting #5
      4h syndrome polr3a #5
      met852val #5
      dysfunction mris #5
      case brains #6
      anodontia atrophy #7
      diffuse central hypomyelination #8
      hirotomo saitsu #16
      infantile hirotomo saitsu #16
      naomichi matsumoto wdr45 #16
      hirotomo saitsu noboru #16
      adulthood wdr45 #16
      mizushima naomichi matsumoto #16
      adulthood wdr45 encodes #16
      iron lennox #16
      wdr45 encodes homolog #16
      adulthood hirotomo saitsu #16
      wdr45 static encephalopathy #17
      wdr45 static #17
      mutant slc35a2 #19
      slc35a2 encoding #19
      naomichi matsumoto #19
      naomichi matsumoto colleagues #19
      inactivation slc35a2 #19
      isoforms spasms #19
      humans infantile age #19
      eoee age #20
      females bcor #21
      cask guanylate kinases #21
      autophagy protein humans #22
      rnf213 genotype #22
      fnbp4 #23
      noboru mizushima #23
      wdr45 encodes #24
      yeast autophagy protein #25
      ofcd linked #26
      mmd early #27
      normal development age #27
      identification novo mutations #29
      polr3b encoding #29
      humans infantile #32
      static encephalopathy childhood #33
      udp‐galactose transporter #34
      wildtype slc35a2 allele #41
      neurodegeneration adulthood #41
      slc35a2 allele #41
      polr3a encoding #44
      c14576ga variant #45
      patients ohtahara #49
      missense mutant protein #49
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      Prominent publications by Yukiko Kondo

      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: 9794

      OBJECTIVE: RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim was to clarify the correlation between the RNF213 genotype and MMD phenotype.

      METHODS: The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected. Genotype-phenotype correlations were statistically ...

      Known for Moyamoya Disease | Rnf213 Mmd | Age Onset | Susceptibility Gene | Severe Form
      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: 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: 6917

      PURPOSE: Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with congenital cataract.

      METHODS: Two affected members from each family were pooled and ...

      Known for Congenital Cataract | Exome Sequencing | Pathogenic Mutations | Visual Impairment | Genetic Heterogeneity
      KOL-Index: 6805

      Hirotomo Saitsu, Noboru Mizushima, Naomichi Matsumoto and colleagues report the identification of de novo mutations in WDR45 that cause static encephalopathy of childhood with neurodegeneration in adulthood. WDR45 encodes a homolog of the yeast autophagy protein Atg18.

      Known for Novo Mutations | Static Encephalopathy | Autophagy Gene | Wdr45 Encodes | Intellectual Disability
      KOL-Index: 6465

      Early-onset epileptic encephalopathies (EOEE) are severe neurological disorders characterized by frequent seizures accompanied by developmental regression or retardation. Whole-exome sequencing of 12 patients together with five pairs of parents and subsequent Sanger sequencing in additional 328 EOEE patients identified two de novo frameshift and one missense mutations in SLC35A2 at Xp11.23, respectively. The three patients are all females. X-inactivation analysis of blood leukocyte DNA ...

      Known for Novo Mutations | Galactose Transporter | Onset Epileptic | Frameshift Mutation | Congenital Disorders
      KOL-Index: 5266

      We describe a 33-year-old male patient with mental retardation and cerebellar ataxia whose brain magnetic resonance imaging (MRI) showed diffuse central hypomyelination. The associated hypogonadotropic hypogonadism and hypodontia were consistent with the clinical diagnosis of 4H syndrome. Two compound heterozygous mutations in POLR3A were found: p.Met852Val and p.Asn1249His. MRI of the brain showed cerebellar atrophy, atrophy of the corpus callosum, and diffuse hypomyelination extending ...

      Known for 4h Syndrome | Polymerase Iii | Basal Ganglia | Cerebellar Ataxia | Heterozygous Mutations
      KOL-Index: 2543

      Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative gene for MLA. However, there are several MLA families without SMOC1 abnormality, suggesting locus heterogeneity in MLA. We aimed to identify a pathogenic mutation in one Lebanese family having an MLA-like condition without SMOC1 mutation by whole-exome ...

      Known for Signaling Peptides | Exome Sequencing | Waardenburg Syndrome | Humans Intracellular | Male Mutation
      KOL-Index: 1643
      Known for Stxbp1 Gene | Ohtahara Syndrome | Genomic Deletions | Munc18 Proteins

      Key People For Congenital Cataract

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

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