N Schanen

Summary

Affiliation: University of Delaware
Country: USA

Publications

  1. ncbi High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
    Nicholas J Wang
    Department of Human Genetics, University of California-Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 75:267-81. 2004
  2. ncbi Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15
    Nicholas J Wang
    Nemours Biomedical Research, Alfred I, duPont Hospital for Children, Wilmington, Delaware, 19803, USA
    BMC Genet 9:2. 2008
  3. ncbi Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report
    David J Wu
    Department of Biological Sciences, University of Delaware, Newark, USA
    Mol Cytogenet 2:27. 2009
  4. ncbi Epigenetics of autism spectrum disorders
    N Carolyn Schanen
    Center for Pediatric Research, Nemours Biomedical Research, Wilmington, DE 19803, USA
    Hum Mol Genet 15:R138-50. 2006
  5. ncbi Pathophysiological mechanisms for actions of the neurotrophins
    Jeffery L Twiss
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Brain Pathol 16:320-32. 2006
  6. ncbi Persistent TrkA activity is necessary to maintain transcription in neuronally differentiated PC12 cells
    Jay H Chang
    Cellular and Molecular Pathology Graduate Program, Department of Pathology, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    J Biol Chem 278:42877-85. 2003
  7. ncbi Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo
    Asmita Kumar
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, DE 19803, USA
    J Cell Sci 121:1128-37. 2008
  8. ncbi PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element-dependent transcription in response to nerve growth factor and cAMP
    Jay H Chang
    Cellular and Molecular Pathology Graduate Program, David Geffen School of Medicine, University of California, Los Angeles, California, USA
    J Neurochem 99:1517-30. 2006
  9. ncbi Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes
    Colin A Baron
    Department of Pathology, University of California, Davis School of Medicine, Sacramento, CA 95817, USA
    Hum Mol Genet 15:853-69. 2006
  10. ncbi Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
    Yuhei Nishimura
    Center for Autism Research and Treatment, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    Hum Mol Genet 16:1682-98. 2007

Research Grants

  1. Investigation of MeCP2 Function in Rett Syndrome
    N Schanen; Fiscal Year: 2007
  2. TARGETED INVESTIGATION OF DISTAL XQ IN RETT SYNDROME
    N Schanen; Fiscal Year: 2004
  3. Investigation of MeCP2 Function in Rett Syndrome
    N Carolyn Schanen; Fiscal Year: 2010

Collaborators

  • Janine LaSalle
  • Jeffery L Twiss
  • Marian D Sigman
  • William T O'donnell
  • Daniel Geschwind
  • Stephen Warren
  • Nicholas J Wang
  • Jay H Chang
  • David J Wu
  • Naghmeh Dorrani
  • Jennette Driscoll
  • Barbara M Malone
  • Asmita Kumar
  • Yuhei Nishimura
  • Dahai Liu
  • Colin A Baron
  • Alexander S Parokonny
  • Sachin Kamboj
  • Shinichi Kudo
  • Karen N Thatcher
  • Kirk J Czymmek
  • Corinna Steindler
  • Ana Isabel Alvarez Retuerto
  • Sandra Pellegrini
  • Ana Isabel Alvarez-Retuerto
  • Araceli Vazquez Lopez
  • Christa L Martin
  • Sarah J Spence
  • Araceli Vazquez-Lopez
  • Jane B Trepel
  • Clifford G Tepper
  • Jeffrey P Gregg
  • Deepika Vuppalanchi
  • Erna van Niekerk
  • Ryan R Davis
  • Stephenie Y Liu
  • Eric Mellon

Detail Information

Publications10

  1. ncbi High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
    Nicholas J Wang
    Department of Human Genetics, University of California-Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 75:267-81. 2004
    ..These results indicate that array CGH is a powerful technique to study rearrangements of proximal chromosome 15q...
  2. ncbi Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15
    Nicholas J Wang
    Nemours Biomedical Research, Alfred I, duPont Hospital for Children, Wilmington, Delaware, 19803, USA
    BMC Genet 9:2. 2008
    ..Five recurrent breakpoints have been described in most cases of segmental aneuploidy of chromosome 15q11-q13 and previous studies have shown that most idic(15) chromosomes arise through BP3:BP3 or BP4:BP5 recombination events...
  3. ncbi Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report
    David J Wu
    Department of Biological Sciences, University of Delaware, Newark, USA
    Mol Cytogenet 2:27. 2009
    ..This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype...
  4. ncbi Epigenetics of autism spectrum disorders
    N Carolyn Schanen
    Center for Pediatric Research, Nemours Biomedical Research, Wilmington, DE 19803, USA
    Hum Mol Genet 15:R138-50. 2006
    ..This review examines the potential role of epigenetic factors in the etiology of ASD...
  5. ncbi Pathophysiological mechanisms for actions of the neurotrophins
    Jeffery L Twiss
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Brain Pathol 16:320-32. 2006
    ..The potential for each is discussed in this review...
  6. ncbi Persistent TrkA activity is necessary to maintain transcription in neuronally differentiated PC12 cells
    Jay H Chang
    Cellular and Molecular Pathology Graduate Program, Department of Pathology, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    J Biol Chem 278:42877-85. 2003
    ..Interestingly, the initial response of the cyclic AMP response element promoter to NGF was delayed, becoming Trk-dependent well beyond the peaks in TrkA and downstream protein kinase signal transduction...
  7. ncbi Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo
    Asmita Kumar
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, DE 19803, USA
    J Cell Sci 121:1128-37. 2008
    ..Some common RTT missense and nonsense mutations significantly affect binding kinetics, suggesting that alterations in chromatin binding can result in protein dysfunction and hence a disease phenotype...
  8. ncbi PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element-dependent transcription in response to nerve growth factor and cAMP
    Jay H Chang
    Cellular and Molecular Pathology Graduate Program, David Geffen School of Medicine, University of California, Los Angeles, California, USA
    J Neurochem 99:1517-30. 2006
    ..Depletion of ICER from PC12 cells indicated that HDAC-dependent ICER induction is responsible for the delay in CRE-dependent transcription after NGF treatment...
  9. ncbi Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes
    Colin A Baron
    Department of Pathology, University of California, Davis School of Medicine, Sacramento, CA 95817, USA
    Hum Mol Genet 15:853-69. 2006
    ..This study provides insight into the direct and indirect effects of copy number gains in chromosome 15 and provides a framework for the study of these effects in neuronal systems...
  10. ncbi Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
    Yuhei Nishimura
    Center for Autism Research and Treatment, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    Hum Mol Genet 16:1682-98. 2007
    ..These results provide evidence that blood derived lymphoblastoid cells gene expression is likely to be useful for identifying etiological subsets of autism and exploring its pathophysiology...

Research Grants11

  1. Investigation of MeCP2 Function in Rett Syndrome
    N Schanen; Fiscal Year: 2007
    ..The long term goals are to understand the pathogenesis of the dysfunction of the nervous system in patients with RTT and determine ways that the system can be modulated to potentially improve function and develop targeted therapies. ..
  2. TARGETED INVESTIGATION OF DISTAL XQ IN RETT SYNDROME
    N Schanen; Fiscal Year: 2004
    ..The investigations will test three primary hypotheses using combined molecular and cytogenetic approaches. ..
  3. Investigation of MeCP2 Function in Rett Syndrome
    N Carolyn Schanen; Fiscal Year: 2010
    ..The long term goals are to understand the pathogenesis of the dysfunction of the nervous system in patients with RTT and determine ways that the system can be modulated to potentially improve function and develop targeted therapies. ..