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Author Chamberlain, S.J.; Germain, N.D.; Chen, P.-F.; Hsiao, J.S.; Glatt-Deeley, H. url  doi
openurl 
  Title Modeling Genomic Imprinting Disorders Using Induced Pluripotent Stem Cells Type Journal Article
  Year 2016 Publication Methods in Molecular Biology (Clifton, N.J.) Abbreviated Journal Methods Mol Biol  
  Volume (down) 1353 Issue Pages 45-64  
  Keywords Alleles; Animals; Cell Differentiation; Cells, Cultured; DNA Copy Number Variations; DNA Methylation; DNA Primers/chemical synthesis/metabolism; *Epigenesis, Genetic; Feeder Cells/cytology; Fibroblasts/cytology; *Genomic Imprinting; Humans; In Situ Hybridization, Fluorescence/methods; Induced Pluripotent Stem Cells/*metabolism/pathology; Mice; *Models, Genetic; Polymerase Chain Reaction/methods; Prader-Willi Syndrome/diagnosis/*genetics/pathology; RNA/genetics/metabolism; RNA, Small Nucleolar/genetics/metabolism; Ubiquitin-Protein Ligases/genetics/metabolism; Allele-specific PCR; DNA methylation; Genomic imprinting; Induced pluripotent stem cells; Rna Fish  
  Abstract Induced pluripotent stem cell (iPSC) technology has allowed for the invaluable modeling of many genetic disorders including disorders associated with genomic imprinting. Genomic imprinting involves differential DNA and histone methylation and results in allele-specific gene expression. Most of the epigenetic marks in somatic cells are erased and reestablished during the process of reprogramming into iPSCs. Therefore, in generating models of disorders associated with genomic imprinting, it is important to verify that the imprinting status and allele-specific gene expression patterns of the parental somatic cells are maintained in their derivative iPSCs. Here, we describe three techniques: DNA methylation analysis, allele-specific PCR, and RNA FISH, which we use to analyze genomic imprinting in iPSC models of neurogenetic disorders involving copy number variations of the chromosome 15q11-q13 region.  
  Address University of Connecticut Health Center, 400 Farmington Avenue, Farmington, CT, 06030-6403, USA  
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  Language English Summary Language Original Title  
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  Series Volume Series Issue Edition  
  ISSN 1064-3745 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:25520291 Approved no  
  Call Number refbase @ user @ Serial 16791  
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Author Wenzel, H.J.; Hunsaker, M.R.; Greco, C.M.; Willemsen, R.; Berman, R.F. url  doi
openurl 
  Title Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation Type Journal Article
  Year 2010 Publication Brain Research Abbreviated Journal Brain Res  
  Volume (down) 1318 Issue Pages 155-166  
  Keywords Age Factors; Aged; Animals; Brain/metabolism/*pathology; Cell Nucleus/metabolism/*pathology; Cytoplasm/metabolism/pathology; Disease Models, Animal; Female; Fragile X Mental Retardation Protein/genetics; Fragile X Syndrome/metabolism/*pathology; Gene Knock-In Techniques; Humans; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Neuroglia/metabolism/*pathology; Neurons/metabolism/*pathology; Sex Factors; Trinucleotide Repeat Expansion; Ubiquitin/*metabolism  
  Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental retardation 1 (FMR1) gene. The neuropathological hallmark of the disease is the presence of ubiquitin-positive intranuclear inclusions in neurons and in astrocytes. Ubiquitin-positive intranuclear inclusions have also been found in the neurons of transgenic mice model carrying an expanded CGG((98)) trinucleotide repeat of human origin but have not previously been described in glial cells. Therefore, we used immunocytochemical methods to determine the pathological features of nuclear and/or cytoplasmic inclusions in astrocytes, Bergmann glia, and neurons, as well as relationships between inclusion patterns, age, and repeat length in CGG knock-in (KI) mice in comparison with wild-type mice. In CGG KI mice, ubiquitin-positive intranuclear inclusions were found in neurons (e.g., pyramidal cells, GABAergic neurons) throughout the brain in cortical and subcortical brain regions; these inclusions increased in number and size with advanced age. Ubiquitin-positive intranuclear inclusions were also present in protoplasmic astrocytes, including Bergmann glia in the cerebellum. The morphology of intranuclear inclusions in CGG KI mice was compared to that of typical inclusions in human neurons and astrocytes in postmortem FXTAS brain tissue. This new finding of previously unreported pathology in astrocytes of CGG KI mice now provides an important mouse model to study astrocyte pathology in human FXTAS.  
  Address Department of Neurological Surgery, University of California, Davis; Davis, CA 95618, USA  
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  Language English Summary Language Original Title  
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  Series Volume Series Issue Edition  
  ISSN 0006-8993 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:20051238; PMCID:PMC3086812 Approved no  
  Call Number refbase @ user @ Serial 17013  
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Author Busoni, G.; De Simone, A.; Huang, W.-C. openurl 
  Title On the Minimum Dark Matter Mass Testable by Neutrinos from the Sun Type Journal Article
  Year 2013 Publication Jcap Abbreviated Journal  
  Volume (down) 1307 Issue Pages 010  
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  Notes Approved no  
  Call Number refbase @ user @ Busoni:2013kaa Serial 15308  
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Author Cerasa, A.; Gioia, M.C.; Fera, F.; Passamonti, L.; Liguori, M.; Lanza, P.; Muglia, M.; Magariello, A.; Quattrone, A. openurl 
  Title Ventro-lateral prefrontal activity during working memory is modulated by MAO A genetic variation Type Journal Article
  Year 2008 Publication Brain Research Abbreviated Journal  
  Volume (down) 1201 Issue 27 Pages 114-121  
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  Call Number refbase @ user @ Cerasa2008 Serial 6256  
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Author Kray, J. url  openurl
  Title Task-set switching under cue-based versus memory-based switching conditions in younger and older adults Type Journal Article
  Year 2006 Publication Brain Research Abbreviated Journal  
  Volume (down) 1105 Issue 1 Pages 83-92  
  Keywords task set switching; cue based switching; memory based switching; age differences; time interval; Cues; Interresponse Time; Memory; Task Complexity; Probability; Uncertainty  
  Abstract Adult age differences in task switching and advance preparation were examined by comparing cue-based and memory-based switching conditions. Task switching was assessed by determining two types of costs that occur at the general (mixing costs) and specific (switching costs) level of switching. Advance preparation was investigated by varying the time interval until the next task (short, middle, very long). Results indicated that the implementation of task sets was different for cue-based switching with random task sequences and memory-based switching with predictable task sequences. Switching costs were strongly reduced under cue-based switching conditions, indicating that task-set cues facilitate the retrieval of the next task. Age differences were found for mixing costs and for switching costs only under cue-based conditions in which older adults showed smaller switching costs than younger adults. It is suggested that older adults adopt a less extreme bias between two tasks than younger adults in situations associated with uncertainty. For cue-based switching with random task sequences, older adults are less engaged in a complete reconfiguration of task sets because of the probability of a further task change. Furthermore, the reduction of switching costs was more pronounced for cue- than memory-based switching for short preparation intervals, whereas the reduction of switch costs was more pronounced for memory- than cue-based switching for longer preparation intervals at least for older adults. Together these findings suggest that the implementation of task sets is functionally different for the two types of task-switching conditions. (PsycINFO Database Record (c) 2007 APA, all rights reserved) (from the journal abstract)  
  Address  
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  Publisher Elsevier Science Place of Publication Kray, Jutta, Department of Psychology, Saarland University, Im Stadtwald, D-66123, Saarbrucken, Germ Editor  
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  Notes 0006-8993Accession Number: 2006-10729-008. First Author & Affiliation: Kray, Jutta; Department of Psychology, Saarland University, SaarbrÃRcken, Germany. Other Journal Title: Brain Research. Release Date: 20070312. Publication Type: Journal (0100) Peer Reviewed Journal (0110). Media Covered: Electronic. Media Available: Electronic; Print. Document Type: Journal Article. Language: English. Major Descriptor: Age Differences; Cues; Interresponse Time; Memory; Task Complexity. Minor Descriptor: Probability; Uncertainty. Classification: Cognitive Processes (2340) . Population: Human (10) Male (30) Female (40) . Location: Germany. Age Group: Adulthood (18 yrs & older) (300) . Grant Information: The present research was funded by the Deutsche Forschungsgemeinschaft (grant KR 1884/3-1). Tests & Measures: Digit Symbol Substitution Test; . Methodology: Empirical Study; Quantitative Study. References Available: Y. Approved no  
  Call Number refbase @ user @ Kray2006 Serial 5423  
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