The Molecular Biology Of Down Syndrome

Author : G. Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 3709163803
Total Pages : 362 pages
Book Rating : 4.01/5 ( download)

DOWNLOAD NOW!

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.

Author :
Publisher : Elsevier
ISBN 13 : 0444543007
Total Pages : 273 pages
Book Rating : 4.04/5 ( download)

DOWNLOAD NOW!

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

Author : Gert Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 3709167213
Total Pages : 241 pages
Book Rating : 4.12/5 ( download)

DOWNLOAD NOW!

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.

Author : S. Antonarakis
Publisher :
ISBN 13 :
Total Pages : 92 pages
Book Rating : 4.17/5 ( download)

DOWNLOAD NOW!

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:

Author : G. Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 3709162629
Total Pages : 369 pages
Book Rating : 4.20/5 ( download)

DOWNLOAD NOW!

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.

Author : David Patterson
Publisher :
ISBN 13 :
Total Pages : 320 pages
Book Rating : 4.70/5 ( download)

DOWNLOAD NOW!

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.

Author : Bruce Alberts
Publisher :
ISBN 13 : 9780815332183
Total Pages : 0 pages
Book Rating : 4.81/5 ( download)

DOWNLOAD NOW!

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

Author : National Down Syndrome Society (U.S.)
Publisher : Wiley-Liss
ISBN 13 :
Total Pages : 264 pages
Book Rating : 4.81/5 ( download)

DOWNLOAD NOW!

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.

Author : Todd T. Eckdahl
Publisher : Momentum Press
ISBN 13 : 1944749624
Total Pages : 88 pages
Book Rating : 4.20/5 ( download)

DOWNLOAD NOW!

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.

Author : Subrata Dey
Publisher : BoD – Books on Demand
ISBN 13 : 9535110365
Total Pages : 274 pages
Book Rating : 4.61/5 ( download)

DOWNLOAD NOW!

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.