Lucy R Osborne

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. pmc Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice
    Jennifer O'Leary
    Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
    PLoS ONE 6:e23868. 2011
  2. pmc Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
    Colleen A Morris
    Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada, USA
    Mol Cytogenet 4:7. 2011
  3. pmc Caveat mTOR: aberrant signaling disrupts corticogenesis
    Lucy R Osborne
    Department of Medicine and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
    J Clin Invest 120:1392-5. 2010
  4. pmc Animal models of Williams syndrome
    Lucy R Osborne
    Department of Medicine and Molecular Genetics, University of Toronto, 7360 Medical Sciences Building, 1 King s College Circle, Toronto, ON, Canada
    Am J Med Genet C Semin Med Genet 154:209-19. 2010
  5. doi request reprint Neurobehavioral phenotype in Prader-Willi syndrome
    Joyce Whittington
    Cambridge PWS Research Group
    Am J Med Genet C Semin Med Genet 154:438-47. 2010
  6. pmc Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development
    Lucy R Osborne
    Department of Medicine, University of Toronto, Ontario, Canada
    Expert Rev Mol Med 9:1-16. 2007
  7. pmc Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele
    Nicole M Anderson
    Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
    PLoS ONE 8:e75472. 2013
  8. doi request reprint A novel Phex mutation in a new mouse model of hypophosphatemic rickets
    Celeste Owen
    Centre for Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    J Cell Biochem 113:2432-41. 2012
  9. pmc The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms
    Elaine Tam
    Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:1797-806. 2008
  10. pmc Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
    Lars Feuk
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Hum Genet 79:965-72. 2006

Detail Information

Publications25

  1. pmc Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice
    Jennifer O'Leary
    Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
    PLoS ONE 6:e23868. 2011
    ..Multiple studies have identified in vitro target genes of GTF2IRD1, but we sought to identify in vivo targets in the mouse brain...
  2. pmc Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
    Colleen A Morris
    Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada, USA
    Mol Cytogenet 4:7. 2011
    ..Results indicated that Frohnauer et al.'s data are consistent with previously reported frequencies of 7q11.23 inversion in North America and Spain in both transmitting parents and the general population...
  3. pmc Caveat mTOR: aberrant signaling disrupts corticogenesis
    Lucy R Osborne
    Department of Medicine and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
    J Clin Invest 120:1392-5. 2010
    ..This study helps pave the way for possible therapeutic intervention with rapamycin to control the epilepsy and learning disabilities associated with this disorder...
  4. pmc Animal models of Williams syndrome
    Lucy R Osborne
    Department of Medicine and Molecular Genetics, University of Toronto, 7360 Medical Sciences Building, 1 King s College Circle, Toronto, ON, Canada
    Am J Med Genet C Semin Med Genet 154:209-19. 2010
    ....
  5. doi request reprint Neurobehavioral phenotype in Prader-Willi syndrome
    Joyce Whittington
    Cambridge PWS Research Group
    Am J Med Genet C Semin Med Genet 154:438-47. 2010
    ..We then consider in more detail some of the neurobehavioral aspects of the phenotype listed above that raise the greatest management problems for parents and carers...
  6. pmc Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development
    Lucy R Osborne
    Department of Medicine, University of Toronto, Ontario, Canada
    Expert Rev Mol Med 9:1-16. 2007
    ..The spectrum and frequency of genomic rearrangements at 7q11.23 presents an exceptional opportunity to identify gene(s) directly involved in human speech and language development...
  7. pmc Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele
    Nicole M Anderson
    Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
    PLoS ONE 8:e75472. 2013
    ..Our data suggest that perturbing JAK2 activation may have unexpected consequences in elevation of platelet number and correspondingly, important implications for treatment of hematological disorders with constitutive Jak2 activity...
  8. doi request reprint A novel Phex mutation in a new mouse model of hypophosphatemic rickets
    Celeste Owen
    Centre for Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    J Cell Biochem 113:2432-41. 2012
    ....
  9. pmc The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms
    Elaine Tam
    Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:1797-806. 2008
    ..Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features...
  10. pmc Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
    Lars Feuk
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Hum Genet 79:965-72. 2006
    ..Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development...
  11. pmc Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008
    ..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse...
  12. pmc Cytopenia induction by 5-fluorouracil identifies thrombopoietic mutants in sensitized ENU mutagenesis screens
    Nicole M Anderson
    Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ont, Canada
    Exp Hematol 40:48-60. 2012
    ....
  13. pmc Substrain differences reveal novel disease-modifying gene candidates that alter the clinical course of a rodent model of multiple sclerosis
    Leslie E Summers deLuca
    Department of Immunology, University of Toronto, Toronto, Ontario, Canada
    J Immunol 184:3174-85. 2010
    ..These results demonstrate that substrain differences, perhaps at the level of genomic copy number, can account for variability in the postacute phase of EAE and may drive chronic versus relapsing disease...
  14. pmc Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children
    Stephen W Scherer
    Genetics and Genomic Biology Program, Sick Kids Hospital, Toronto, ON, M5G 1X8, Canada
    Hum Genet 117:383-8. 2005
    ....
  15. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  16. ncbi request reprint Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization
    Lucy R Osborne
    Department of Medicine, The University of Toronto, Toronto, Ontario, Canada
    Methods Mol Med 126:113-28. 2006
    ....
  17. ncbi request reprint First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome
    Frieda Chen
    Department of Molecular Genetics, University of Toronto, Toronto, Canada
    J Bone Miner Res 29:1412-23. 2014
    ..Col1a1(Jrt) /+ is the first reported model of combined OI/EDS and will be useful for exploring aspects of OI and EDS pathophysiology and treatment...
  18. doi request reprint The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice
    Noelle Ochotny
    Faculty of Dentistry, University of Toronto, Toronto, Ontario, Canada
    J Bone Miner Res 26:1484-93. 2011
    ..These results suggest that the V(0) complex has proton-pumping-independent functions in mammalian cells...
  19. ncbi request reprint A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia
    Ann M Flenniken
    Centre for Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada
    Development 132:4375-86. 2005
    ..Thus, these mice represent an experimental model with which to explore the clinical manifestations of ODDD and to evaluate potential intervention strategies...
  20. ncbi request reprint Transgenic mouse overexpressing syntaxin-1A as a diabetes model
    Patrick P L Lam
    University of Toronto, Room 7226, Medical Science Building, 1 King s College Circle, Toronto, Ontario, Canada
    Diabetes 54:2744-54. 2005
    ....
  21. pmc The Centre for Modeling Human Disease Gene Trap resource
    Christine To
    Centre for Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
    Nucleic Acids Res 32:D557-9. 2004
    ..asp). The clones are available as a resource to researchers worldwide to help to functionally annotate the mammalian genome and will serve as a source to test candidate loci identified by phenotype-driven mutagenesis screens...
  22. ncbi request reprint Genomic rearrangements in the spotlight
    Lucy R Osborne
    Nat Genet 40:6-7. 2008
  23. ncbi request reprint Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
    Susan Zeesman
    Department of Pediatrics, McMaster University, Hamilton, Canada
    Am J Med Genet A 140:509-14. 2006
    ..Cytogenetic and molecular analysis of this region should be considered for other individuals displaying similar characteristics...
  24. pmc Severe expressive-language delay related to duplication of the Williams-Beuren locus
    Martin J Somerville
    Department of Medical Genetics, University of Alberta, Edmonton, Alta, Canada
    N Engl J Med 353:1694-701. 2005
    ..Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities...
  25. pmc Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients
    Yuan Qing Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 109:121-4. 2002
    ..Although the regulatory elements that control STX1A transcription were not examined, these results do not support a role for STX1A in the WS phenotype...