Research Topics
Genomes and Genes | N WakamatsuSummaryAffiliation: Institute for Developmental Research Country: Japan Publications
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Detail Information
Publications
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung diseaseN 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...
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresK Yamada
Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan
Am J Hum Genet 69:1178-85. 2001....
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolismY 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...- Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian populationY 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... - Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient familiesY Yamada
Department of Genetics, Inst Developmental Res, Aichi Human Service Center, Aichi, Japan
Nucleosides Nucleotides Nucleic Acids 23:1169-72. 2004.... - Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlationY 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... - A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3Y 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... - Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1N Ishihara
J Med Genet 41:387-93. 2004 - Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1BM 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... - Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase AN Wakamatsu
McGill University Montreal Children s Hospital Research Institute, Quebec, Canada
Genomics 24:110-9. 1994.... - A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selectionN 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... - A second, large deletion in the HEXB gene in a patient with infantile Sandhoff diseaseZ X Zhang
McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada
Hum Mol Genet 4:777-80. 1995 - Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coliA 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... - Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosisY 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... - Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseasesD 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... - An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgroundsB 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...