Affiliation: University of Delaware
- High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageNicholas 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...
- Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15Nicholas 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...
- The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autismJanusz Frackowiak
Department of Developmental Neurobiology, NYS Institute for Basic Research in Developmental Disabilities, New York, Staten Island, USA
Acta Neuropathol Commun 1:61. 2013..Verification of the hypothesis that intraneuronal Aβ may cause oxidative stress was the aim of this study...
- Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case reportDavid 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...
- Epigenetics of autism spectrum disordersN 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...
- Pathophysiological mechanisms for actions of the neurotrophinsJeffery 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...
- Persistent TrkA activity is necessary to maintain transcription in neuronally differentiated PC12 cellsJay 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...
- Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivoAsmita 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...
- 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 cAMPJay 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...
- Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathwaysYuhei 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...
- Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processesColin 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...
- Investigation of MeCP2 Function in Rett SyndromeN 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. ..