Genomes and Genes
Affiliation: University of Washington
- Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumorsKaren Stephens
Departments of Medicine and Laboratory Medicine, University of Washington, 1959 NE Pacific St, Rm I 204, Box 357720, Seattle, WA 98195 7720, USA
Cancer Invest 21:897-914. 2003..These studies have provided insight into the genetic basis of both the variable expression of the disorder and of benign and malignant peripheral nerve sheath tumorigenesis...
- Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignanciesKaren Stephens
Department of Medicine, University of Washington, Medical Genetics 357720, Seattle, WA 98195, USA
Blood 108:1684-9. 2006....
- Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletionStephen H Forbes
Department of Medicine, University of Washington, Seattle, Washington, USA
Genes Chromosomes Cancer 41:12-25. 2004....
- The ichq mutant mouse, a model for the human skin disorder harlequin ichthyosis: mapping, keratinocyte culture, and consideration of candidate genes involved in epidermal growth regulationMartine Dunnwald
Department of Oral Biology, University of Washington, Seattle, WA, USA
Exp Dermatol 12:245-54. 2003..Sequence of RELA in five unrelated human HI cases was normal. The results provide compelling evidence that none of these genes are the primary defect in the ichq mouse and that CAPN1 and RELA are not mutated in the human disorder...
- Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouseDieter E Jenne
Department of Neuroimmunology, Max Planck Institute of Neurobiology, Martinsried, Germany
Genes Chromosomes Cancer 37:111-20. 2003....
- Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionThomas De Raedt
Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
Nat Genet 38:1419-23. 2006..This apparent conservation of patterns of recombination hotspots in moderately diverged paralogous regions contrasts with recent evidence that these patterns are not conserved in less-diverged orthologous regions of chimpanzees...
- Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell lineGeorge Q Perrin
Department of Neuroscience, College of Medicine, University of Florida, Gainesville, FL 32610 0244, USA
J Neurosci Res 85:1347-57. 2007..This model facilitates testing of potential therapeutic interventions, including angiogenesis inhibitors, in a relevant cellular environment...