M E Brunkow

Summary

Publications

  1. 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
  2. ncbi The amount of scurfin protein determines peripheral T cell number and responsiveness
    R Khattri
    Celltech R and D, Inc, Bothell, WA 98021, USA
    J Immunol 167:6312-20. 2001
  3. ncbi Cellular and molecular characterization of the scurfy mouse mutant
    L B Clark
    Chiroscience R and D, Inc, Seattle, WA 98021, USA
    J Immunol 162:2546-54. 1999
  4. 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
  5. ncbi X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
    R S Wildin
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
    Nat Genet 27:18-20. 2001
  6. 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
  7. ncbi Parental imprinting of the H19 and Igf2 genes in the mouse
    S M Tilghman
    Howard Hughes Medical Institute, Princeton University, New Jersey 08544
    Cold Spring Harb Symp Quant Biol 58:287-95. 1993
  8. 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

Collaborators

Detail Information

Publications8

  1. 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...
  2. ncbi The amount of scurfin protein determines peripheral T cell number and responsiveness
    R Khattri
    Celltech R and D, Inc, Bothell, WA 98021, USA
    J Immunol 167:6312-20. 2001
    ..The data indicate a critical role for the Foxp3 gene product in the function of the immune system, with both the number and functionality of peripheral T cells under the aegis of the scurfin protein...
  3. ncbi Cellular and molecular characterization of the scurfy mouse mutant
    L B Clark
    Chiroscience R and D, Inc, Seattle, WA 98021, USA
    J Immunol 162:2546-54. 1999
    ..One interpretation of our data would suggest that the scurfy mutation results in a defect, which interferes with the normal down-regulation of T cell activation...
  4. 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
    ....
  5. ncbi X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
    R S Wildin
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
    Nat Genet 27:18-20. 2001
    ..We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions...
  6. 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...
  7. ncbi Parental imprinting of the H19 and Igf2 genes in the mouse
    S M Tilghman
    Howard Hughes Medical Institute, Princeton University, New Jersey 08544
    Cold Spring Harb Symp Quant Biol 58:287-95. 1993
  8. 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...