Protein Expression In Down Syndrome Brain PDF Download
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| Author | : G. Lubec |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 369 |
| Release | : 2013-12-01 |
| Genre | : Medical |
| ISBN | : 3709162629 |
Download Protein Expression in Down Syndrome Brain Book in PDF, ePub and Kindle
When we worked on Down Syndrome brain in the past we have been focus ing on adult brain. This was a major step forwards as most work on Down Syndrome was carried out on fibroblasts or other tissues and, moreover, we introduced proteomics to identify and quantify brain protein expression. We considered evaluation of brain protein expression in Down Syndrome brain by and by more important than gene hunting at the nucleic acid level realiz ing the long unpredictable way from RNA to protein. The availability of fetal samples along with the proteomic appproach stimulated and reinforced studies on Down Syndrome brain. And indeed, it was found out that some observations on aberrant protein expression in adult Down Syndrome brain could not be verified in the fetal samples indi cating that neurodegeneration in adult Down Syndrome brain may have been responsible rather than trisomy 21. Using brains from the early second trimester of gestation led to the generation of a series of clues for the under standing of aberrant wiring of the brain in Down Syndrome and enabled the determination of altered key functions in early life; e. g. undetectably low drebrin was observed in Down Syndrome cortex, an integral constituent and marker for dendritic spines, main effectors of cross-talk between neurons. In addition, evaluation of the nature of the neuronal deficits in terms of neuro transmission markers could be established as well as neuronal density in fetal Down Syndrome cortex.
| Author | : G. Lubec |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 362 |
| Release | : 2013-12-01 |
| Genre | : Medical |
| ISBN | : 3709163803 |
Download The Molecular Biology of Down Syndrome Book in PDF, ePub and Kindle
This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
| Author | : Mara Dierssen |
| Publisher | : Elsevier |
| Total Pages | : 273 |
| Release | : 2012-06-19 |
| Genre | : Medical |
| ISBN | : 044454299X |
Download Down Syndrome: From Understanding the Neurobiology to Therapy Book in PDF, ePub and Kindle
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 research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist
| Author | : Gert Lubec |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 241 |
| Release | : 2013-03-13 |
| Genre | : Medical |
| ISBN | : 3709167213 |
Download Advances in Down Syndrome Research Book in PDF, ePub and Kindle
"Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.
| Author | : Bani Bandana Ganguly |
| Publisher | : Academic Press |
| Total Pages | : 500 |
| Release | : 2022-08-21 |
| Genre | : Medical |
| ISBN | : 0323904572 |
Download Genetics and Neurobiology of Down Syndrome Book in PDF, ePub and Kindle
Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development. Reviews genetic etiology and mechanisms of trisomy 21 Discusses prenatal screening and genetic counseling, including ethical aspects Explores link between Down Syndrome and susceptibility to Alzheimer’s and early brain aging Covers cognitive and neurological symptoms and other health consequences Identifies future therapeutic developments
| Author | : F. Fay Evans-Martin |
| Publisher | : Infobase Publishing |
| Total Pages | : 145 |
| Release | : 2009 |
| Genre | : Down syndrome |
| ISBN | : 143811950X |
Download Down Syndrome Book in PDF, ePub and Kindle
Describes the symptoms, diagnosis, treatment, and genetic aspects of Down syndrome.
| Author | : Elizabeth Head |
| Publisher | : Academic Press |
| Total Pages | : 354 |
| Release | : 2021-08-31 |
| Genre | : Medical |
| ISBN | : 0128188464 |
Download The Neurobiology of Aging and Alzheimer Disease in Down Syndrome Book in PDF, ePub and Kindle
The Neurobiology of Aging and Alzheimer Disease in Down Syndrome provides a multidisciplinary approach to the understanding of aging and Alzheimer disease in Down syndrome that is synergistic and focused on efforts to understand the neurobiology as it pertains to interventions that will slow or prevent disease. The book provides detailed knowledge of key molecular aspects of aging and neurodegeneration in Down Syndrome by bringing together different models of the diseases and highlighting multiple techniques. Additionally, it includes case studies and coverage of neuroimaging, neuropathological and biomarker changes associated with these cohorts. This is a must-have resource for researchers who work with or study aging and Alzheimer disease either in the general population or in people with Down syndrome, for academic and general physicians who interact with sporadic dementia patients and need more information about Down syndrome, and for new investigators to the aging and Alzheimer/Down syndrome arena. Discusses the complexities involved with aging and Alzheimer’s disease in Down syndrome Summarizes the neurobiology of aging that requires management in adults with DS and leads to healthier aging and better quality of life into old age Serves as learning tool to orient researchers to the key challenges and offers insights to help establish critical areas of need for further research
| Author | : Douglas Wahlsten |
| Publisher | : Academic Press |
| Total Pages | : 300 |
| Release | : 2019-03-01 |
| Genre | : Science |
| ISBN | : 0128128321 |
Download Genes, Brain Function, and Behavior Book in PDF, ePub and Kindle
Genes, Brain Function, and Behavior offers a concise description of the nervous system that processes sensory input and initiates motor movements. It reviews how behaviors are defined and measured, and how experts decide when a behavior is perturbed and in need of treatment. Behavioral disorders that are clearly related to a defect in a specific gene are reviewed, and the challenges of understanding complex traits such as intelligence, autism and schizophrenia that involve numerous genes and environmental factors are explored. New methods of altering genes offer hope for treating or even preventing difficulties that arise in our genes. This book explains what genes are, what they do in the nervous system, and how this impacts both brain function and behavior. Presents essential background, facts, and terminology about genes, brain function, and behavior Builds clear explanations on this solid foundation while minimizing technical jargon Explores in depth several single-gene and chromosomal neurological disorders Derives lessons from these clear examples and highlights key lessons in boxes Examines the intricacies of complex traits that involve multiple genetic and environmental factors by applying lessons from simpler disorders Explains diagnosis and definition Includes a companion website with Powerpoint slides and images for each chapter for instructors and links to resources
| Author | : Marie-Claude Potier |
| Publisher | : Frontiers Media SA |
| Total Pages | : 183 |
| Release | : 2017-02-24 |
| Genre | : |
| ISBN | : 2889450457 |
Download Intellectual Disabilities in Down Syndrome from Birth and throughout Life: Assessment and Treatment Book in PDF, ePub and Kindle
Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.
| Author | : Brian Skotko |
| Publisher | : Special Needs Collection |
| Total Pages | : 0 |
| Release | : 2009 |
| Genre | : Brothers and sisters |
| ISBN | : 9781890627867 |
Download Fasten Your Seatbelt Book in PDF, ePub and Kindle
Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?
