M E Brunkow

Summary

Affiliation: Celltech R and D Ltd
Country: UK

Publications

  1. pmc Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
    M E Brunkow
    Celltech Inc, Bothell, WA 98021, USA
    Am J Hum Genet 68:577-89. 2001
  2. ncbi A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5
    M E Brunkow
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Genomics 25:421-32. 1995
  3. ncbi The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    C L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA
    Nat Genet 27:20-1. 2001
  4. ncbi Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
    M E Brunkow
    Celltech Chiroscience, Inc, Bothell, Washington, USA
    Nat Genet 27:68-73. 2001
  5. ncbi A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome
    C L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Seattle, WA 98195, USA
    Immunogenetics 53:435-9. 2001

Detail Information

Publications5

  1. pmc Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
    M E Brunkow
    Celltech Inc, Bothell, WA 98021, USA
    Am J Hum Genet 68:577-89. 2001
    ....
  2. ncbi A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5
    M E Brunkow
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Genomics 25:421-32. 1995
    ....
  3. ncbi The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    C L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA
    Nat Genet 27:20-1. 2001
    ..Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3...
  4. ncbi Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
    M E Brunkow
    Celltech Chiroscience, Inc, Bothell, Washington, USA
    Nat Genet 27:68-73. 2001
    ..In sf mice, a frameshift mutation results in a product lacking the forkhead domain. Genetic complementation demonstrates that the protein product of Foxp3, scurfin, is essential for normal immune homeostasis...
  5. ncbi A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome
    C L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Seattle, WA 98195, USA
    Immunogenetics 53:435-9. 2001
    ..We suggest that this mutation is causal of IPEX in this family by a mechanism of nonspecific degradation of the FOXP3 gene message...