The Molecular Biology Of Down Syndrome

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The Molecular Biology of Down Syndrome

Author : G. Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 3709163803
Total Pages : 362 pages
Book Rating : 4.7/5 (91 download)

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Book Synopsis The Molecular Biology of Down Syndrome by : G. Lubec

Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 2013-12-01 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Advances in Down Syndrome Research

Author : Gert Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 3709167213
Total Pages : 241 pages
Book Rating : 4.7/5 (91 download)

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Book Synopsis Advances in Down Syndrome Research by : Gert Lubec

Download or read book Advances in Down Syndrome Research written by Gert Lubec and published by Springer Science & Business Media. This book was released on 2013-03-13 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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.

Molecular Biology of Chromosome 21 and Down Syndrome

Author : S. Antonarakis
Publisher :
ISBN 13 :
Total Pages : 92 pages
Book Rating : 4.:/5 (247 download)

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Book Synopsis Molecular Biology of Chromosome 21 and Down Syndrome by : S. Antonarakis

Download or read book Molecular Biology of Chromosome 21 and Down Syndrome written by S. Antonarakis and published by . This book was released on 1999 with total page 92 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Down Syndrome: From Understanding the Neurobiology to Therapy

Author :
Publisher : Elsevier
ISBN 13 : 0444543007
Total Pages : 273 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by :

Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Molecular Biology of the Cell

Author :
Publisher :
ISBN 13 : 9780815332183
Total Pages : 0 pages
Book Rating : 4.3/5 (321 download)

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Book Synopsis Molecular Biology of the Cell by :

Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Protein Expression in Down Syndrome Brain

Author : G. Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 3709162629
Total Pages : 369 pages
Book Rating : 4.7/5 (91 download)

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Book Synopsis Protein Expression in Down Syndrome Brain by : G. Lubec

Download or read book Protein Expression in Down Syndrome Brain written by G. Lubec and published by Springer Science & Business Media. This book was released on 2013-12-01 with total page 369 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The Neurobiology of Aging and Alzheimer Disease in Down Syndrome

Author : Elizabeth Head
Publisher : Academic Press
ISBN 13 : 0128188464
Total Pages : 354 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis The Neurobiology of Aging and Alzheimer Disease in Down Syndrome by : Elizabeth Head

Download or read book The Neurobiology of Aging and Alzheimer Disease in Down Syndrome written by Elizabeth Head and published by Academic Press. This book was released on 2021-08-31 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Phenotypic Mapping of Down Syndrome

Author : National Down Syndrome Society (U.S.)
Publisher : Wiley-Liss
ISBN 13 :
Total Pages : 264 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Phenotypic Mapping of Down Syndrome by : National Down Syndrome Society (U.S.)

Download or read book Phenotypic Mapping of Down Syndrome written by National Down Syndrome Society (U.S.) and published by Wiley-Liss. This book was released on 1993-10-28 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in Clinical and Biological Research, Volume 384 The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions Proceedings of a National Down Syndrome Society Conference Held in New York, January 14 and 15, 1993 Charles J. Epstein, Editor In the last decade, considerable progress in the phenotypic mapping of Down syndrome and other syndromes caused by aneuploidy has been made, answering many perplexing questions and raising new ones. Of primary concern is the relationship between the individual components of the Down syndrome phenotype and the specific genes that give rise to them. In its continuing role of supporting basic research through scientific conferences, the National Down Syndrome Society brought together a panel of experts from genetics, molecular, and cellular biology to explore the genotype—phenotype correlations of Down syndrome and other aneuploid conditions. The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions discusses approaches to understanding the genetics and the underlying mechanisms of the different phenotypic characteristics of Down syndrome, as well as animal models of trisomy 21 relevant to phenotypic mapping of Down syndrome. Since the precedents for phenotypic mapping go far beyond human chromosome 21, the book also covers several other aneuploid states in addition to Down syndrome itself, thereby presenting the latest information about state-of-the-art approaches to phenotypic mapping. The text is divided into the following sections: General Approach to Phenotypic Mapping in Aneuploidy Phenotypic Mapping of Down Syndrome Phenotypic Mapping of Animal Models Phenotypic Mapping in Conditions Other than Trisomy 21 The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions is essential reading for medical and human geneticists as well as other scientists working in the fields of Down syndrome and related conditions. In addition, clinicians caring for individuals with Down syndrome and other syndromes resulting from aneuploidy will find this book of interest.

Molecular Genetics of Chromosome 21 and Down Syndrome

Author : David Patterson
Publisher :
ISBN 13 :
Total Pages : 320 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Molecular Genetics of Chromosome 21 and Down Syndrome by : David Patterson

Download or read book Molecular Genetics of Chromosome 21 and Down Syndrome written by David Patterson and published by . This book was released on 1990 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, the molecular analysis of chromosome 21 has progressed so rapidly that the current level of sophistication in understanding the organization of its genes and DNA sequences perhaps exceeds that of any other chromosome. This book explores the fundamental nature of this condition's pathology as related to the structure and expression of genes that are known to be critical in the development of Down Syndrome. It recounts the impressive advances made toward a complete physical mapping of chromosome 21. It also discusses how individual genes in this chromosome have been isolated and their effects relevant to aspects of Down Syndrome are being studied in both cellular and in vivo models. This text provides a comprehensive account of the most up-to-date research in this area, and offers a general overview of the advances in molecular analysis techniques that are revolutionizing the entire field of chromosomal mapping.

Down Syndrome

Author : Subrata Dey
Publisher : BoD – Books on Demand
ISBN 13 : 9535110365
Total Pages : 274 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Down Syndrome by : Subrata Dey

Download or read book Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2013-03-06 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome, the most cutting-edge book in the field congenital disorders. This book features up-to-date, well referenced research and review articles on Down syndrome. Research workers, scientists, medical graduates and pediatricians will find it to be an excellent source for references and review. It is hoped that such individuals will view this book as a resource that can be consulted during all stages of their research and clinical investigations. Key features of this book are: Common diseases in Down syndrome Molecular Genetics Neurological Disorders Prenatal Diagnosis and Genetic Counselling Whilst aimed primarily at research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially parents, relatives and health-care providers who work with infants and children with Down syndrome.

Down Syndrome

Author : Todd T. Eckdahl
Publisher : Momentum Press
ISBN 13 : 1944749624
Total Pages : 108 pages
Book Rating : 4.9/5 (447 download)

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Book Synopsis Down Syndrome by : Todd T. Eckdahl

Download or read book Down Syndrome written by Todd T. Eckdahl and published by Momentum Press. This book was released on 2017-11-21 with total page 108 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents Down syndrome, which is the most common chromosomal disorder in humans, occurring at a rate of about 1 in 700 births. It describes the characteristic physical features caused by Down syndrome and the myriad of symptoms and health complications it brings, including heart defects, congenital vision and hearing loss, abnormalities of the musculoskeletal system, digestive problems, epilepsy, leukemia, an increased risk of infectious disease, dementia, and intellectual disability. Readers will learn about methods by which Down syndrome can be diagnosed prenatally or at birth, and the cause of Down syndrome as extra copies of the approximately 250 genes on chromosome 21. The book describes treatments and therapies for Down syndrome, and approaches to the education of children with it. Future prospects for the diagnosis and treatment of Down syndrome are presented, including experimental drugs, stem cell therapies, a process by which embryos produced in a clinical laboratory can be screened for Down syndrome before being used to establish a pregnancy, and several Down syndrome gene therapy strategies.

Berman's Pediatric Decision Making E-Book

Author : Lalit Bajaj
Publisher : Elsevier Health Sciences
ISBN 13 : 0323087027
Total Pages : 808 pages
Book Rating : 4.3/5 (23 download)

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Book Synopsis Berman's Pediatric Decision Making E-Book by : Lalit Bajaj

Download or read book Berman's Pediatric Decision Making E-Book written by Lalit Bajaj and published by Elsevier Health Sciences. This book was released on 2011-08-08 with total page 808 pages. Available in PDF, EPUB and Kindle. Book excerpt: Berman’s Pediatric Decision Making uses an algorithmic, structured approach to lead you to the right diagnosis and treatment every time. Drs. Lalit Baja, Simon Hambidge, Ann-Christine Nyquist, and Gwendolyn Kerby use evidence-based research and flow charts for each presenting complaint or specific disorder to provide quick access to the information you need for effective decision making. With updated drug tables and revised algorithms, this streamlined new edition makes it even easier for you to diagnose and manage common clinical problems from infancy through adolescence. Rapidly access guidance on diagnosis and management from algorithms for each clinical disorder. Treat the full range of diseases and disorders with comprehensive coverage of diagnosis, assessment of severity, and clinical management. Choose the best treatment for each case thanks to indications for surgical interventions as well as expensive diagnostic procedures Stay current on recent developments and make effective decisions for movement disorders, physical abuse in children, sexual abuse in children, eating disorders, ADHD, and other hot topics. Find answers quickly and easily with a new table of contents organized into two sections—Presenting Complaints and Specific Disorders—that reduces the need to flip between chapters. Tap into the diverse perspectives of expert authors from all over the country. Get only the information you need in the streamlined new edition with shorter, more user-friendly flow diagrams and fewer specialized chapters.

Focus on Medical Genetics and Down's Syndrome Research

Author : Richard A. Firthel
Publisher : Nova Publishers
ISBN 13 : 9781600213472
Total Pages : 212 pages
Book Rating : 4.2/5 (134 download)

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Book Synopsis Focus on Medical Genetics and Down's Syndrome Research by : Richard A. Firthel

Download or read book Focus on Medical Genetics and Down's Syndrome Research written by Richard A. Firthel and published by Nova Publishers. This book was released on 2007 with total page 212 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics is the application of genetics to medicine. Medical genetics is broad and varied and encompasses many different individual fields, including clinical genetics, biochemical genetics, cytogenetics, molecular genetics, the genetics of common diseases (such as neural tube defects), and genetic counselling. Each of the individual fields within medical genetics is a hybrid. Clinical genetics is a hybrid of clinical medicine with genetics. Biochemical genetics is a hybrid of biochemistry, mainly the biochemistry of amino acids and proteins, with genetics. Molecular genetics is a hybrid of the biochemistry of DNA and RNA with genetics. Cytogenetics is a hybrid of cytology and genetics; it involves the study of chromosomes under the microscope. And genetic counselling is a hybrid of genetics with non-directional counselling. This book presents leading-edge research on medical genetics as well as on Down's syndrome.

Genetics and Etiology of Down Syndrome

Author : Subrata Dey
Publisher : BoD – Books on Demand
ISBN 13 : 9533076313
Total Pages : 344 pages
Book Rating : 4.5/5 (33 download)

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Book Synopsis Genetics and Etiology of Down Syndrome by : Subrata Dey

Download or read book Genetics and Etiology of Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2011-08-29 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental

Report of the Ninth International Workshop on the Molecular Biology of Human Chromosome 21 and Down Syndrome

Author : Muriel T. Davisson
Publisher :
ISBN 13 :
Total Pages : 176 pages
Book Rating : 4.:/5 (762 download)

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Book Synopsis Report of the Ninth International Workshop on the Molecular Biology of Human Chromosome 21 and Down Syndrome by : Muriel T. Davisson

Download or read book Report of the Ninth International Workshop on the Molecular Biology of Human Chromosome 21 and Down Syndrome written by Muriel T. Davisson and published by . This book was released on 2001 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Neurobiology of Brain Disorders

Author : Michael J. Zigmond
Publisher : Elsevier
ISBN 13 : 0123982804
Total Pages : 823 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis Neurobiology of Brain Disorders by : Michael J. Zigmond

Download or read book Neurobiology of Brain Disorders written by Michael J. Zigmond and published by Elsevier. This book was released on 2014-12-03 with total page 823 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurobiology of Brain Disorders is the first book directed primarily at basic scientists to offer a comprehensive overview of neurological and neuropsychiatric disease. This book links basic, translational, and clinical research, covering the genetic, developmental, molecular, and cellular mechanisms underlying all major categories of brain disorders. It offers students, postdoctoral fellows, and researchers in the diverse fields of neuroscience, neurobiology, neurology, and psychiatry the tools they need to obtain a basic background in the major neurological and psychiatric diseases, and to discern connections between basic research and these relevant clinical conditions. This book addresses developmental, autoimmune, central, and peripheral neurodegeneration; infectious diseases; and diseases of higher function. The final chapters deal with broader issues, including some of the ethical concerns raised by neuroscience and a discussion of health disparities. Included in each chapter is coverage of the clinical condition, diagnosis, treatment, underlying mechanisms, relevant basic and translational research, and key unanswered questions. Written and edited by a diverse team of international experts, Neurobiology of Brain Disorders is essential reading for anyone wishing to explore the basic science underlying neurological and neuropsychiatric diseases. Links basic, translational, and clinical research on disorders of the nervous system, creating a format for study that will accelerate disease prevention and treatment Covers a vast array of neurological disorders, including ADHD, Down syndrome, autism, muscular dystrophy, diabetes, TBI, Parkinson, Huntington, Alzheimer, OCD, PTSD, schizophrenia, depression, and pain Illustrated in full color Each chapter provides in-text summary points, special feature boxes, and research questions Provides an up-to-date synthesis of primary source material

A Short History of Medical Genetics

Author : Peter S. Harper
Publisher : Oxford University Press
ISBN 13 : 0195187504
Total Pages : 570 pages
Book Rating : 4.1/5 (951 download)

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Book Synopsis A Short History of Medical Genetics by : Peter S. Harper

Download or read book A Short History of Medical Genetics written by Peter S. Harper and published by Oxford University Press. This book was released on 2008 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.