N Wakamatsu

Summary

Affiliation: Institute for Developmental Research
Country: Japan

Publications

  1. ncbi Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
    N Wakamatsu
    Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
    Nat Genet 27:369-70. 2001
  2. pmc Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features
    K Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan
    Am J Hum Genet 69:1178-85. 2001
  3. doi Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 29:291-4. 2010
  4. doi Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 30:1248-55. 2011
  5. ncbi Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families
    Y Yamada
    Department of Genetics, Inst Developmental Res, Aichi Human Service Center, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 23:1169-72. 2004
  6. ncbi Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi 480 0392, Japan
    Hum Mutat 18:253. 2001
  7. ncbi A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi 480 0392, Japan
    Hum Mutat 17:78. 2001
  8. pmc Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
    N Ishihara
    J Med Genet 41:387-93. 2004
  9. ncbi Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B
    M Yoneda
    Second Department of Internal Medicine, Fukui Medical University, Fukui, Japan
    Neurology 59:1637-40. 2002
  10. ncbi Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A
    N Wakamatsu
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Genomics 24:110-9. 1994

Collaborators

Detail Information

Publications16

  1. ncbi Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
    N Wakamatsu
    Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
    Nat Genet 27:369-70. 2001
    ..SIP1 is located in the deleted segment at 2q22 from a patient with a de novo t(2;13)(q22;q22) translocation. SIP1 seems to have crucial roles in normal embryonic neural and neural crest development...
  2. pmc Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features
    K Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan
    Am J Hum Genet 69:1178-85. 2001
    ....
  3. doi Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 29:291-4. 2010
    ..In these four patients, we also performed molecular analysis of PRPS1, but no mutations in PRPP synthetase were found...
  4. doi Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 30:1248-55. 2011
    ..As shown here in the heterogeneity of HPRT mutations, the spectrum of 70 mutations identified in the Asian population fits the four main conclusions that emerged previously from worldwide analysis...
  5. ncbi Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families
    Y Yamada
    Department of Genetics, Inst Developmental Res, Aichi Human Service Center, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 23:1169-72. 2004
    ....
  6. ncbi Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi 480 0392, Japan
    Hum Mutat 18:253. 2001
    ..The finding of MECP2 mutations in 92.5% of patients with RTT indicates that RTT fulfilling the diagnostic criteria are due to genetic alteration...
  7. ncbi A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi 480 0392, Japan
    Hum Mutat 17:78. 2001
    ..As the frequency of carriers heterozygous for these mutations seems to be very low, identifying them may lead to a better understanding of the genetic background of populations in Japan...
  8. pmc Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
    N Ishihara
    J Med Genet 41:387-93. 2004
  9. ncbi Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B
    M Yoneda
    Second Department of Internal Medicine, Fukui Medical University, Fukui, Japan
    Neurology 59:1637-40. 2002
    ..This suggests that screening for ZFHX1B mutations is warranted even in the absence of typical clinical features of the syndrome...
  10. ncbi Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A
    N Wakamatsu
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Genomics 24:110-9. 1994
    ....
  11. ncbi A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection
    N Wakamatsu
    Department of Neurology, Niigata University, Japan
    J Biol Chem 267:2406-13. 1992
    ..The results demonstrate a new type of exon mutation affecting 3' splice site selection...
  12. ncbi A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease
    Z X Zhang
    McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
    Hum Mol Genet 4:777-80. 1995
  13. pmc Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli
    A Leon-del-Rio
    McGill University Montreal Children s Hospital Research Institute, QC, Canada
    Proc Natl Acad Sci U S A 92:4626-30. 1995
    ..We anticipate that alternative splicing most likely mediates the mitochondrial versus cytoplasmic expression, although the elements required for directing the enzyme to the mitochondria remain to be confirmed...
  14. pmc Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis
    Y Gotoda
    First Department of Internal Medicine, School of Medicine, The University of Tokushima, Japan
    Am J Hum Genet 63:1015-24. 1998
    ..These data demonstrate that widely heterogeneous missense or nonsense mutations of the MANB gene are the molecular basis underlying alpha-mannosidosis...
  15. ncbi Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases
    D Phaneuf
    Department of Pediatrics, McGill University, Montreal, Canada
    Hum Mol Genet 5:1-14. 1996
    ..We propose that Hexa -/- mice escape disease through partial catabolism of accumulated GM2 via GA2 (asialo-GM2) through the combined action of sialidase and beta-hexosaminidase B...
  16. pmc An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds
    B McInnes
    Research Institute, Hospital for Sick Children, Montreal, Quebec, Canada
    J Clin Invest 90:306-14. 1992
    ..The biochemical basis of his mild phenotype is uncertain, but may result from genetic variations in the RNA splicing machinery...