Genomes and Genes
Lucy R Osborne
Affiliation: University of Toronto
- 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 EuropeColleen 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...
- Neurobehavioral phenotype in Prader-Willi syndromeJoyce 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...
- Animal models of Williams syndromeLucy 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....
- Caveat mTOR: aberrant signaling disrupts corticogenesisLucy 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...
- Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language developmentLucy 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...
- Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 alleleNicole 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...
- A novel Phex mutation in a new mouse model of hypophosphatemic ricketsCeleste Owen
Centre for Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
J Cell Biochem 113:2432-41. 2012....
- The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptomsElaine 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...
- Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaLars 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...
- Cytopenia induction by 5-fluorouracil identifies thrombopoietic mutants in sensitized ENU mutagenesis screensNicole M Anderson
Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ont, Canada
Exp Hematol 40:48-60. 2012....
- Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian 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...
- Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected childrenStephen W Scherer
Genetics and Genomic Biology Program, Sick Kids Hospital, Toronto, ON, M5G 1X8, Canada
Hum Genet 117:383-8. 2005....
- Global analysis of gene expression in the developing brain of Gtf2ird1 knockout miceJennifer 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...
- Substrain differences reveal novel disease-modifying gene candidates that alter the clinical course of a rodent model of multiple sclerosisLeslie 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...
- Williams-Beuren syndrome diagnosis using fluorescence in situ hybridizationLucy R Osborne
Department of Medicine, The University of Toronto, Toronto, Ontario, Canada
Methods Mol Med 126:113-28. 2006....
- Human chromosome 7: DNA sequence and biologyStephen 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...
- Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23Emma Strong
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada
Am J Hum Genet 97:216-27. 2015..Our findings highlight the importance of DNA methylation in the pathogenesis of WS and Dup7 and provide molecular mechanisms that are potentially shared by WS, Dup7, and ASD. ..
- First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndromeFrieda 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...
- Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndromeShahryar Khattak
Program in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, Canada
Mol Brain 8:77. 2015..Williams-Beuren Syndrome (WBS) is caused by the microdeletion of approximately 25 genes on chromosome 7q11.23, and is characterized by a spectrum of cognitive and behavioural features...
- The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in miceNoelle 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...
- A Gja1 missense mutation in a mouse model of oculodentodigital dysplasiaAnn 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...
- Transgenic mouse overexpressing syntaxin-1A as a diabetes modelPatrick P L Lam
University of Toronto, Room 7226, Medical Science Building, 1 King s College Circle, Toronto, Ontario, Canada
Diabetes 54:2744-54. 2005....
- The Centre for Modeling Human Disease Gene Trap resourceChristine 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...
- Genomic rearrangements in the spotlightLucy R Osborne
Nat Genet 40:6-7. 2008
- Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2Susan 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...
- Severe expressive-language delay related to duplication of the Williams-Beuren locusMartin 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...
- Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patientsYuan 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...