Hiroaki Tomita

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16
    Hiroaki Tomita
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Lancet 359:2000-2. 2002
  2. pmc Sample matching by inferred agonal stress in gene expression analyses of the brain
    Jun Z Li
    Stanford Human Genome Center, Stanford University, Palo Alto, CA, USA
    BMC Genomics 8:336. 2007
  3. doi request reprint Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
    Shinji Ono
    Department of Psychiatry, Nagasaki University Hospital, Sakamoto 1 7 1, Nagasaki, Japan
    J Hum Genet 57:338-41. 2012
  4. ncbi request reprint Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families
    Taeko Kikuchi
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
    J Hum Genet 52:334-41. 2007
  5. ncbi request reprint A SNP in the ABCC11 gene is the determinant of human earwax type
    Koh ichiro Yoshiura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Nat Genet 38:324-30. 2006

Collaborators

Detail Information

Publications5

  1. ncbi request reprint Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16
    Hiroaki Tomita
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Lancet 359:2000-2. 2002
    ..15 (theta;=0.00) at the locus D16S3044. Identification of the earwax locus could contribute to further anthropogenetic studies and physiological and pathological understanding of the apocrine-gland development...
  2. pmc Sample matching by inferred agonal stress in gene expression analyses of the brain
    Jun Z Li
    Stanford Human Genome Center, Stanford University, Palo Alto, CA, USA
    BMC Genomics 8:336. 2007
    ..This problem is analogous to the one encountered in genetic association studies, where self-reported race and ethnicity are often imprecise proxies for an individual's actual genetic ancestry...
  3. doi request reprint Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
    Shinji Ono
    Department of Psychiatry, Nagasaki University Hospital, Sakamoto 1 7 1, Nagasaki, Japan
    J Hum Genet 57:338-41. 2012
    ..Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism...
  4. ncbi request reprint Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families
    Taeko Kikuchi
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
    J Hum Genet 52:334-41. 2007
    ..Thus, one of the two genes, SCNN1G and ITGAL, could be causative for PKC, but we were not able to find any other mutations that explain the PKC phenotype...
  5. ncbi request reprint A SNP in the ABCC11 gene is the determinant of human earwax type
    Koh ichiro Yoshiura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Nat Genet 38:324-30. 2006
    ..These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G --> A SNP is the first example of DNA polymorphism determining a visible genetic trait...