Genomic Mosaicism In Neurons And Other Cell Types

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Genomic Mosaicism in Neurons and Other Cell Types

Author : José María Frade
Publisher : Humana
ISBN 13 : 9781493984404
Total Pages : 0 pages
Book Rating : 4.9/5 (844 download)

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Book Synopsis Genomic Mosaicism in Neurons and Other Cell Types by : José María Frade

Download or read book Genomic Mosaicism in Neurons and Other Cell Types written by José María Frade and published by Humana. This book was released on 2018-08-18 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume presents methods for the analysis of genomic variability in vertebrate neurons and broadens our knowledge in the ways we understand the brain and its neurons. The chapters in this book are divided into 5 parts, and cover the following topics: principles and approaches for discovery of somatic mosaicism in the brain, aneuploidy and ploidy variation, DNA copy number variation, LINE-1 retrotransposition, and genetic and genomic mosaicism in aging and disease. In Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and authoritative, Genomic Mosaicism in Neurons and Other Cell Types is a valuable resource for learning about the latest techniques for the analysis of genome and genetic mosaicism in vertebrate neurons.

Somatic Genomic Mosaicism & Human Disease

Author : Ivan Y. Iourov
Publisher : Frontiers Media SA
ISBN 13 : 2832505627
Total Pages : 82 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Somatic Genomic Mosaicism & Human Disease by : Ivan Y. Iourov

Download or read book Somatic Genomic Mosaicism & Human Disease written by Ivan Y. Iourov and published by Frontiers Media SA. This book was released on 2022-11-14 with total page 82 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy

Author : Udo Rüb
Publisher : Springer
ISBN 13 : 331919285X
Total Pages : 146 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy by : Udo Rüb

Download or read book The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy written by Udo Rüb and published by Springer. This book was released on 2015-09-29 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.

The Brain and Its Diseases ...

Author : Thomas Stretch Dowse
Publisher :
ISBN 13 :
Total Pages : 178 pages
Book Rating : 4.R/5 (5 download)

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Book Synopsis The Brain and Its Diseases ... by : Thomas Stretch Dowse

Download or read book The Brain and Its Diseases ... written by Thomas Stretch Dowse and published by . This book was released on 1879 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Small Supernumerary Marker Chromosomes (sSMC)

Author : Thomas Liehr
Publisher : Springer Science & Business Media
ISBN 13 : 9783642207662
Total Pages : 220 pages
Book Rating : 4.2/5 (76 download)

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Book Synopsis Small Supernumerary Marker Chromosomes (sSMC) by : Thomas Liehr

Download or read book Small Supernumerary Marker Chromosomes (sSMC) written by Thomas Liehr and published by Springer Science & Business Media. This book was released on 2011-11-03 with total page 220 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Two Faces of Evil: Cancer and Neurodegeneration

Author : Thomas Curran
Publisher : Springer Science & Business Media
ISBN 13 : 3642166024
Total Pages : 166 pages
Book Rating : 4.6/5 (421 download)

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Book Synopsis Two Faces of Evil: Cancer and Neurodegeneration by : Thomas Curran

Download or read book Two Faces of Evil: Cancer and Neurodegeneration written by Thomas Curran and published by Springer Science & Business Media. This book was released on 2010-12-16 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: Homeostasis involves a delicate interplay between generative and degenerative processes to maintain a stable internal environment. In biological systems, equilibrium is established and controlled through a series of negative feedback mechanisms driven by a range of signal transduction processes. Failures in these complex communication pathways result in instability leading to disease. Cancer represents a state of imbalance caused by an excess of cell proliferation. In contrast, neurodegeneration is a consequence of excessive cell loss in the nervous system. Both of these disorders exhort profound tolls on humanity and they have been subject to a great deal of research designed to ameliorate this suffering. For the most part, the topics have been viewed as distinct and rarely do opportunities arise for transdisciplinary discussions among experts in both fields. However, cancer and neurodegeneration represent yin-yang counterpoints in the regulation of cell growth, and it is reasonable to hypothesize that key regulatory events mediated by oncogenes and tumor suppressor genes in cancer may also affect neurodegenerative processes

Genomic Structural Variants in Nervous System Disorders

Author : Christos Proukakis
Publisher : Humana
ISBN 13 : 9781071623565
Total Pages : 272 pages
Book Rating : 4.6/5 (235 download)

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Book Synopsis Genomic Structural Variants in Nervous System Disorders by : Christos Proukakis

Download or read book Genomic Structural Variants in Nervous System Disorders written by Christos Proukakis and published by Humana. This book was released on 2022-07-06 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers the detection of structural variants (SVs), which require different strategies than the ones used for single nucleotide variants (SNVs). This book aims to provide readers with a combination of the latest “wet lab” methods and computational pipelines that target all SV classes. The chapters in this book cover topics such as detection of transposable elements (TEs) from short read data; long read sequencing used for multiple variable number tandem repeat analysis; genomic mosaicism in the nervous system; and optical genome mapping. In the Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and comprehensive, Genomic Structural Variants in Nervous System Disorders is a valuable resource for scientists and researchers interested in learning more about this important field.

Human Interphase Chromosomes

Author : Ivan Iourov
Publisher : Springer Nature
ISBN 13 : 303062532X
Total Pages : 184 pages
Book Rating : 4.0/5 (36 download)

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Book Synopsis Human Interphase Chromosomes by : Ivan Iourov

Download or read book Human Interphase Chromosomes written by Ivan Iourov and published by Springer Nature. This book was released on 2021-01-29 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation opens new horizons for basic and applied bioscience Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in diagnostic and research practices to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This second edition serves as a source of updated valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology.

Alzheimer’s Disease

Author : Jerold Chun
Publisher : Springer Nature
ISBN 13 : 1071626558
Total Pages : 341 pages
Book Rating : 4.0/5 (716 download)

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Book Synopsis Alzheimer’s Disease by : Jerold Chun

Download or read book Alzheimer’s Disease written by Jerold Chun and published by Springer Nature. This book was released on 2022-11-18 with total page 341 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume explores the latest techniques used to study the human brain towards understanding Alzheimer’s Disease and related neurodegenerative disorders. Contributed to by world-renowned experts, the chapters in this book are divided into five parts. Part One discusses human post-mortem brain preparations including single-cell isolation and use of specialized imaging. Part Two talks about neural cellular models using primary and human induced pluripotent stem cells to model aspects of the human brain. Part Three details nucleic acid analyses including transcriptomic and somatic genomic changes, and Part Four discusses lipid analyses via mass spectrometry. Lastly, Part Five covers protein analyses, particularly Aβ and Tau. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Alzheimer’s Disease: Methods and Protocols is a valuable tool for all researchers who want to expand their knowledge and understanding of this disease and other related dementias.

Mosaicism in Human Skin

Author : Rudolf Happle
Publisher : Springer Nature
ISBN 13 : 3030899373
Total Pages : 252 pages
Book Rating : 4.0/5 (38 download)

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Book Synopsis Mosaicism in Human Skin by : Rudolf Happle

Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer Nature. This book was released on 2022-11-24 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians.

The Mouse Nervous System

Author : Charles Watson
Publisher : Academic Press
ISBN 13 : 0123694973
Total Pages : 815 pages
Book Rating : 4.1/5 (236 download)

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Book Synopsis The Mouse Nervous System by : Charles Watson

Download or read book The Mouse Nervous System written by Charles Watson and published by Academic Press. This book was released on 2011-11-28 with total page 815 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Mouse Nervous System provides a comprehensive account of the central nervous system of the mouse. The book is aimed at molecular biologists who need a book that introduces them to the anatomy of the mouse brain and spinal cord, but also takes them into the relevant details of development and organization of the area they have chosen to study. The Mouse Nervous System offers a wealth of new information for experienced anatomists who work on mice. The book serves as a valuable resource for researchers and graduate students in neuroscience. Systematic consideration of the anatomy and connections of all regions of the brain and spinal cord by the authors of the most cited rodent brain atlases A major section (12 chapters) on functional systems related to motor control, sensation, and behavioral and emotional states A detailed analysis of gene expression during development of the forebrain by Luis Puelles, the leading researcher in this area Full coverage of the role of gene expression during development and the new field of genetic neuroanatomy using site-specific recombinases Examples of the use of mouse models in the study of neurological illness

Human Genome Editing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309452880
Total Pages : 329 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis Human Genome Editing by : National Academies of Sciences, Engineering, and Medicine

Download or read book Human Genome Editing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-08-13 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Human Embryonic Stem Cells

Author : Arlene Chiu
Publisher : Springer Science & Business Media
ISBN 13 : 1592594239
Total Pages : 455 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis Human Embryonic Stem Cells by : Arlene Chiu

Download or read book Human Embryonic Stem Cells written by Arlene Chiu and published by Springer Science & Business Media. This book was released on 2003-08-01 with total page 455 pages. Available in PDF, EPUB and Kindle. Book excerpt: A discussion of all the key issues in the use of human pluripotent stem cells for treating degenerative diseases or for replacing tissues lost from trauma. On the practical side, the topics range from the problems of deriving human embryonic stem cells and driving their differentiation along specific lineages, regulating their development into mature cells, and bringing stem cell therapy to clinical trials. Regulatory issues are addressed in discussions of the ethical debate surrounding the derivation of human embryonic stem cells and the current policies governing their use in the United States and abroad, including the rules and conditions regulating federal funding and questions of intellectual property.

Neurodegenerative Diseases

Author : Shamim I. Ahmad
Publisher : Springer Science & Business Media
ISBN 13 : 1461406536
Total Pages : 390 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Neurodegenerative Diseases by : Shamim I. Ahmad

Download or read book Neurodegenerative Diseases written by Shamim I. Ahmad and published by Springer Science & Business Media. This book was released on 2012-03-12 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: The editor of this volume, having research interests in the field of ROS production and the damage to cellular systems, has identified a number of enzymes showing ·OH scavenging activities details of which are anticipated to be published in the near future as confirmatory experiments are awaited. It is hoped that the information presented in this book on NDs will stimulate both expert and novice researchers in the field with excellent overviews of the current status of research and pointers to future research goals. Clinicians, nurses as well as families and caregivers should also benefit from the material presented in handling and treating their specialised cases. Also the insights gained should be valuable for further understanding of the diseases at molecular levels and should lead to development of new biomarkers, novel diagnostic tools and more effective therapeutic drugs to treat the clinical problems raised by these devastating diseases.

Cytogenomics

Author : Thomas Liehr
Publisher : Academic Press
ISBN 13 : 0128235802
Total Pages : 430 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Cytogenomics by : Thomas Liehr

Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

The Claustrum

Author : John R. Smythies
Publisher : Academic Press
ISBN 13 : 012404722X
Total Pages : 408 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis The Claustrum by : John R. Smythies

Download or read book The Claustrum written by John R. Smythies and published by Academic Press. This book was released on 2013-11-11 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: The present day is witnessing an explosion of our understanding of how the brain works at all levels, in which complexity is piled on complexity, and mechanisms of astonishing elegance are being continually discovered. This process is most developed in the major areas of the brain, such as the cortex, thalamus, and striatum. The Claustrum instead focuses on a small, remote, and, until recently, relatively unknown area of the brain. In recent years, researchers have come to believe that the claustrum is concerned with consciousness, a bold hypothesis supported by the claustrum’s two-way connections with nearly every other region of the brain and its seeming involvement with multisensory integrations—the hallmark of consciousness. The claustrum, previously in a humble position at the back of the stage, might in fact be the conductor of the brain’s orchestra. The Claustrum brings together leading experts on the claustrum from the varied disciplines of neuroscience, providing a state-of-the-art presentation of what is currently known about the claustrum, promising lines of current research (including epigenetics), and projections of new lines of investigation on the horizon. Develops a unifying hypothesis about the claustrum’s role in consciousness, as well as the integration of sensory information and other higher brain functions. Discusses the involvement of the claustrum with autism, schizophrenia, epilepsy, Alzheimer’s disease, and Parkinson’s disease Coverage of all aspects of the claustrum, from its evolution and development to promising new lines of research, including epigenetics, provides a platform and point of reference for future investigative efforts

The Making of a Fly

Author : P. A. Lawrence
Publisher : Wiley-Blackwell
ISBN 13 : 9780632030484
Total Pages : 240 pages
Book Rating : 4.0/5 (34 download)

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Book Synopsis The Making of a Fly by : P. A. Lawrence

Download or read book The Making of a Fly written by P. A. Lawrence and published by Wiley-Blackwell. This book was released on 1992-04-15 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understanding how a multicellular animal develops from a single cell (the fertilized egg) poses one of the greatest challenges in biology today. Development from egg to adult involves the sequential expression of virtually the whole of an organism's genetic instructions both in the mother as she lays down developmental cues in the egg, and in the embryo itself. Most of our present information on the role of genes in development comes from the invertebrate fruit fly, Drosophila. The two authors of this text (amongst the foremost authorities in the world) follow the developmental process from fertilization through the primitive structural development of the body plan of the fly after cleavage into the differentiation of the variety of tissues, organs and body parts that together define the fly. The developmental processes are fully explained throughout the text in the modern language of molecular biology and genetics. This text represents the vital synthesis of the subject that many have been waiting for and it will enable many specific courses in developmental biology and molecular genetics to focus on it. It will appeali to 2nd and 3rd year students in these disciplines as well as in biochemistry, neurobiology and zoology. It will also have widespread appeal among researchers. Authored by one of the foremost authorities in the world. A unique synthesis of the developmental cycle of Drosophila - our major source of information on the role of genes in development. Designed to provide the basis of new courses in developmental biology and molecular genetics at senior undergraduate level. A lucid explanation in the modern language of the science.