Down Syndrome : from Understanding the Neurobiology to Therapy / edited by Mara Dierssen and Rafael De La Torre.

Contributor(s): Dierssen, Mara [editor.] | Torre, Rafael de la [editor.]
Material type: TextTextSeries: Progress in brain research: v. 197.Publisher: Amsterdam : Elsevier, 2012Description: 1 online resource (vii, 262 pages) : illustrationsContent type: text Media type: computer Carrier type: online resourceISBN: 9780444542991; 044454299X; 9780444543004; 0444543007; 1280581646; 9781280581649Subject(s): Down syndrome | Developmental neurobiology | Down Syndrome -- genetics | Down Syndrome -- therapy | Neurobiology | Down syndrome | Developmental neurobiology | Down syndrome | down's syndrome | humane ziekten | human diseases | verstandelijk gehandicapt | mental retardation | genexpressie | gene expression | genoomanalyse | genome analysis | kenvermogen | cognition | gedrag | behaviour | aangeboren afwijkingen | congenital abnormalities | Human Pathology | Humane pathologieGenre/Form: Electronic books. | Electronic books. DDC classification: 616.858842 LOC classification: QP376 | .P7 v.197ebOnline resources: Click here to access online
Contents:
Ch. 1. Therapeutic approaches in the improvement of cognitive performance in Down syndrome: past, present, and future / R. de la Torre and M. Dierssen -- Ch. 2. Genomic determinants in the phenotypic variability of Down syndrome / A. Letourneau and S.E. Antonarakis -- Ch. 3. Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario / B. Bardoni [and others] -- Ch. 4. Aberrant epigenetic landscape in intellectual disability / J.V. Sanchez-Mut, D. Huertas and M. Esteller -- Ch. 5. Pathways to cognitive deficits in Down syndrome / X. Sturgeon [and others] -- Ch. 6. Neurological phenotypes for Down syndrome across the life span / I.T. Lott -- Ch. 7. Human and mouse model cognitive phenotypes in Down syndrome: implications for assessment / J.O. Edgin [and others] -- Ch. 8. Perturbation of dendritic protrusions in intellectual disability / J. Levenga and R. Willemsen -- Ch. 9. The in vivo Down syndrome genomic library in mouse / Y. Herault [and others] -- Ch. 10. Discoveries in Down syndrome: moving basic science to clinical care -- A.M. Kleschevnikov [and others] -- Ch. 11. A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome / D.G. Currier, R.C. Polk and R.H. Reeves -- Ch. 12. Gene therapy for Down syndrome / C. Fillat and X. Altafaj.
Summary: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future researchChapters are extensively referenced to provide readers with a comprehensive list of resources on the topics coveredAll chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist.
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Text in English.

Includes bibliographical references and index.

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future researchChapters are extensively referenced to provide readers with a comprehensive list of resources on the topics coveredAll chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist.

Ch. 1. Therapeutic approaches in the improvement of cognitive performance in Down syndrome: past, present, and future / R. de la Torre and M. Dierssen -- Ch. 2. Genomic determinants in the phenotypic variability of Down syndrome / A. Letourneau and S.E. Antonarakis -- Ch. 3. Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario / B. Bardoni [and others] -- Ch. 4. Aberrant epigenetic landscape in intellectual disability / J.V. Sanchez-Mut, D. Huertas and M. Esteller -- Ch. 5. Pathways to cognitive deficits in Down syndrome / X. Sturgeon [and others] -- Ch. 6. Neurological phenotypes for Down syndrome across the life span / I.T. Lott -- Ch. 7. Human and mouse model cognitive phenotypes in Down syndrome: implications for assessment / J.O. Edgin [and others] -- Ch. 8. Perturbation of dendritic protrusions in intellectual disability / J. Levenga and R. Willemsen -- Ch. 9. The in vivo Down syndrome genomic library in mouse / Y. Herault [and others] -- Ch. 10. Discoveries in Down syndrome: moving basic science to clinical care -- A.M. Kleschevnikov [and others] -- Ch. 11. A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome / D.G. Currier, R.C. Polk and R.H. Reeves -- Ch. 12. Gene therapy for Down syndrome / C. Fillat and X. Altafaj.

Online resource; title from HTML table of contents page (ScienceDirect, viewed May 25, 2018).

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