M E Brunkow
Affiliation: Celltech R and D Ltd
- Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinM E Brunkow
Celltech Inc, Bothell, WA 98021, USA
Am J Hum Genet 68:577-89. 2001....
- A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5M E Brunkow
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
Genomics 25:421-32. 1995....
- The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3C 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...
- Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouseM 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...
- A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndromeC 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...