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The Molecular Biology Of Down Syndrome
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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.
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.
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
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.
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.
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.
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 88 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.
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
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.
Book Synopsis Molecular and Cytogenetic Studies of Non-disjunction by : National Down Syndrome Society (U.S.). Symposium
Download or read book Molecular and Cytogenetic Studies of Non-disjunction written by National Down Syndrome Society (U.S.). Symposium and published by . This book was released on 1989 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Trisomy 21 is the most common genetic disorder in humans. The present volume reviews the results of molecular and cytogenetic techniques performed on four organisms--humans, mice, "Drosophila," and yeast. Examined are the association between meiotic recombination and chromosome disjunction, increasing maternal age and non-disjunction in humans, and genetic factors that may contribute to a predisposition to non-disjunction. Molecular analyses involving different human chromosomes, the importance of tissue-specific trisonomy, and the significance of specific etiological agents to non-disjunction are also considered.
Book Synopsis Molecular Genetic Medicine by : Theodore Friedmann
Download or read book Molecular Genetic Medicine written by Theodore Friedmann and published by Elsevier. This book was released on 2013-10-22 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Medicine, Volume II, summarizes progress in several of the most important areas of modern molecular genetics and medicine. The chapters deal with ancient and common genetic diseases, a new infectious disease that threatens to become a world-wide scourge for all of humanity, and two of the most important and still poorly understood causes of mental retardation. The common thread winding through these separate stories is the astounding illumination of all these disorders by modern molecular genetic studies. The book opens with a chapter on the history of the molecular approach to the thalassemias, among the most common and severe of all human genetic diseases. Separate chapters follow covering the history and current state of the fragile X syndrome; the mechanisms of hepatitis B viral gene expression, its relation to liver cancer, and its prevention; and molecular genetics of Down syndrome. Subsequent chapters deal with mammalian X chromosome inactivation; the use of the human hprt locus as a model system for analyzing mutation in human cells in vivo; and the regulatory genes and factors that govern virus replication of HIV-1.
Book Synopsis Down Syndrome by : Richard Ward Newton
Download or read book Down Syndrome written by Richard Ward Newton and published by . This book was released on 2015 with total page 315 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Molecular Mechanisms of Mental Retardation in Down Syndrome by : Mohammed Rachidi
Download or read book Molecular Mechanisms of Mental Retardation in Down Syndrome written by Mohammed Rachidi and published by Nova Biomedical Books. This book was released on 2008 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mental Retardation (MR) is a cognitive impairment affecting 3% of global population, characterised by subnormal intellectual functioning and impaired behavior. A large percent of individuals with mental deficiency have a significant chromosomal abnormality. Of these, Down syndrome (DS) is the major genetic cause of MR and contributes to about 30% of all moderate-to-severe cases of MR. This invalidating aspect of DS has hard impacts in public health and poses significant challenges for clinicians and scientists. Drug treatment identifications for MR in DS need understanding of the molecular mechanisms underlying this cognitive phenotype. In this golden period for DS research, with the development of animal and molecular models, and new techniques for transcriptional regulation, we could hope to rescue the basic molecular defects giving rise to MR.
Book Synopsis Medical Molecular Genetics by : P. A. Hoffee
Download or read book Medical Molecular Genetics written by P. A. Hoffee and published by Wiley-Blackwell. This book was released on 1998-02-11 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Molecular Genetics is one of eight books in the Integrated Medical Sciences (IMS) Series from Fence Creek Publishing. Designed for first- and second-year medical students, they are ideal for use as textbooks, course supplements, or board preparation. The books in the IMS Series focus on the integration of core biomedical concepts and provide insights into the application of basic principles and processes to clinical medicine.
Book Synopsis Molecular Genetics Medicine by : Theodore Friedmann
Download or read book Molecular Genetics Medicine written by Theodore Friedmann and published by Academic Press. This book was released on 2014-11-27 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: Continuing to keep pace with progress in human molecular genetics, Volume 4 of Molecular Genetic Medicine reviews five new areas of critical importance. Chapter 1 reviews the molecular mechanisms that have beenunraveled in the pathogenesis of eye diseases. The second chapter explains the remarkable new principle if genomic imprinting, or epigenetic modification imposed by parental history. Chapter 3 describes the etiology of amyotrophic lateral sclerosis, or Lou Gehrig's Disease, as effected by superdioxide dismutase function and neuron degeneration. The fourth chapter covers the normal and aberrant functions of peroxisomes, now implicated in many diseases, most notably adrenoleukodystrophy, publicized widelyby the"cure"called Lorenzo's oil. The final chapter summarizes recombination techniques that permit functional new genetic material to be introduced into, and subsequently transmitted through, the germ line of mammalian cells. These amazing methods arehaving profound impacts on medicine and on concepts of the study of normal human development and disease. Presents technical and historical overviews of molecular biology applied to disease detection, diagnosis, and treatment Chronicles the continuing explosion of knowledge in molecular genetic medicine giving current approaches to understanding human illness Documents the revolution in human and molecular genetics leading to a new field of medicine
Book Synopsis Molecular Genetics in Medicine by : D.F. Roberts
Download or read book Molecular Genetics in Medicine written by D.F. Roberts and published by Springer. This book was released on 1991-06-18 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt: A report of the proceedings of the Galton Institute's symposium which explored ethical, legal, political and psychological problems arising within advances in molecular genetics. It concentrates on the applications of molecular genetic techniques in clinical genetics.
Book Synopsis Molecular Genetic Medicine by : Theodore Friedmann
Download or read book Molecular Genetic Medicine written by Theodore Friedmann and published by Elsevier. This book was released on 2013-10-22 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Medicine, Volume III, summarizes progress in several of the most important areas of modern molecular genetics and medicine. The book opens with a chapter on the birth and early development of the field of human gene therapy and the earliest conceptual and technical descriptions of the issues and opportunities in this new area of medicine. This is followed by separate chapters on the gene responsible for cystic fibrosis; interactions and genetic phenomena that accompany the progression of astrocytic tumors; and molecular biology of Alzheimer’s disease; and the search for the Huntington's disease gene and the role of genetic instability in this disease. The final chapter discusses the ways in which both the medical insurance and genetics industries will have to respond to changes in the power of genetic information and its ability to predict coronary vascular disease, cancer, neurological disease, and all the other common afflictions that constitute the bulk of their businesses.
