Download or read book Genetic Mosaicism written by János Szabad and published by Cambridge Scholars Publishing. This book was released on 2021-06-17 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: The presence of green and yellow ornamental plants around us, dark spots on our skin, people with brown and blue mosaic irises, and white-spotted dogs and horses are all well-known phenomena of life, and are recognisable genetic mosaics. Although such genetics mosaics live with us (and, in fact, we are all a genetic mosaics), little is known about the genetic bases of their origin. This book provides a general overview of the mechanisms that lead to the formation of different types of mosaics, listing an ample collection of examples to illustrate the impact of the genetic mosaics on our life. The book will appeal to the reader interested in understanding the relationship between genetic events and mosaicism, especially undergraduate and graduate students and medical doctors, as well as experts engaged in horticulture and animal breeding.
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.
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
Download or read book Females Are Mosaics written by Barbara Migeon and published by Oxford University Press. This book was released on 2007-03-15 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome (inherited from their mother), females have two X chromosomes in every cell (one from each parent). The fathers copy works in some cells, while the mothers copy works in others. These two X chromosomes often function differently, especially if one carries a defective gene. Much has been written about the Y chromosome and its role in inducing maleness. This will be the first book about the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease. Barbara Migeon, from the renowned McKusick-Nathan Institute at Johns Hopkins, is a major figure in clinical genetics and is eminently qualified to write this book, and she writes clearly and effectively. She describes both the underlying molecular mechanisms and the remarkable genetic consequences of X inactivation and its role in determining the biological concepts characteristic of women. Females are Mosaics will be valuable to geneticists, biologists, and all health professionals interested in women's health.
Download or read book The Principles of Clinical Cytogenetics written by Steven Gersen and published by Humana Press. This book was released on 2010-10-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.
Download or read book Genetic Mosaics and Other Essays written by Curt Stern and published by Cambridge : Harvard University Press. This book was released on 1968 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Download or read book Genetic Mosaics and Chimeras in Mammals written by L. B. Russell and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Mosaics and Cell Differentiation written by W. J. Gehring and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 323 pages. Available in PDF, EPUB and Kindle. Book excerpt: The relationship of cell lineage and differentiation is one of the most intriguing problems in developmental biology. In most higher organisms, the analysis of the cell lineage has to rely on indirect methods. Only in the most suitable systems, like the nematodes, can the pattern of cell division be determined by direct observation under the microscope. In cases where this is not possible, the fate of the cells has to be examined by using cell markers. Most suitable for this purpose are genetic markers, provided that they do not interfere with the developmental pathway to be studied. However, suitable genetic markers and techniques for generating genetic mosaics are available in a few organisms only. Therefore, this volume is largely concerned with Drosophila and the mouse, which have been studied most extensively. In 1929 STURTEVANT introduced the analysis of gynandromorphs into devel opmental genetics. However, this important contribution remained largely unnoticed until the late sixties, when the potential of this technique for deter mining embryonic fate maps and the number of primordial cells was exploited, and the methodology extended to the mapping of mutational foci. Mitotic recombination was demostrated by STER:-
Download or read book Noninvasive Prenatal Testing NIPT written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques
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.
Download or read book The Geographic Mosaic of Coevolution written by John N. Thompson and published by University of Chicago Press. This book was released on 2005-06-15 with total page 456 pages. Available in PDF, EPUB and Kindle. Book excerpt: Coevolution—reciprocal evolutionary change in interacting species driven by natural selection—is one of the most important ecological and genetic processes organizing the earth's biodiversity: most plants and animals require coevolved interactions with other species to survive and reproduce. The Geographic Mosaic of Coevolution analyzes how the biology of species provides the raw material for long-term coevolution, evaluates how local coadaptation forms the basic module of coevolutionary change, and explores how the coevolutionary process reshapes locally coevolving interactions across the earth's constantly changing landscapes. Picking up where his influential The Coevolutionary Process left off, John N. Thompsonsynthesizes the state of a rapidly developing science that integrates approaches from evolutionary ecology, population genetics, phylogeography, systematics, evolutionary biochemistry and physiology, and molecular biology. Using models, data, and hypotheses to develop a complete conceptual framework, Thompson also draws on examples from a wide range of taxa and environments, illustrating the expanding breadth and depth of research in coevolutionary biology.
Download or read book Harper s Textbook of Pediatric Dermatology 2 Volume Set written by Peter H. Hoeger and published by John Wiley & Sons. This book was released on 2019-12-16 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A consummate classic with a fresh approach to pediatric dermatology Children ́s skin is different. Maturation affects the epidermal barrier, the cutaneous microbiome, adnexal structures, vasculature, and transcutaneous absorption of drugs. The immature skin is more susceptible to pathogens and environmental disruption. Many genetic disorders are either present at birth or manifest early in childhood. Skin diseases thus present differently in children than in adults. Pediatric dermatology has seen significant advances over the last decade, particularly in the field of molecular genetics research, which has furthered our understanding of the pathogenesis of many skin diseases and the development of new approaches to treatment. This fourth edition of the Harper classic provides state-of-the-art information on all aspects of skin disease in children. It covers the diagnosis and treatment of all conditions - both common and rare - with a consistently evidence-based approach. Existing content has been refreshed and fully updated to reflect emerging thinking and to incorporate the latest in research and clinical data - especially at the genetic level. This new fourth edition includes: Greater focus on the genetics behind skin disease, including new genes/genodermatoses, progress in genetic analysis, and stem cell transplants Increased coverage of lasers and other technologies used to treat skin disease More summary tables, learning points, tables of differential diagnosis, and clinical algorithms for diagnosis and management Additional online features, including patient information links and multiple choice questions Harper's Textbook of Pediatric Dermatology delivers crucial clinical insights and up-to-date research information that spans the breadth of the field. As the most comprehensive reference book on this subject available, this revised fourth edition will support and guide the daily practice of both dermatologists and pediatricians across the world.
Download or read book The Genetics of Pain written by Jeffrey Steven Mogil and published by Progress in Pain Research and. This book was released on 2004 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics more than any other biological approach can explain why some people experience more pain than others and receive less benefit from existing analgesics. Sixteen scholarly articles from international contributors describe the application of genetic techniques to the problem of pain and consider the knowledge that has so far resulted. Three themed sections review the techniques that are allowing the study of pain mechanisms at the genetic level; describe the progress being made in lab animals and humans in identifying the genes responsible for individual differences; and explore the practical and ethical issues that face pain researchers. The editor is associated with the Centre for Research on Pain, McGill U., Montreal. Annotation : 2004 Book News, Inc., Portland, OR (booknews.com).
Download or read book Mosaic Landscapes and Ecological Processes written by L. Hansson and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This series presents studies that have used the paradigm of landscape ecology. Other approaches, both to landscape and landscape ecology are common, but in the last decade landscape ecology has become distinct from its predecessors and its contemporaries. Landscape ecology addresses the relationships among spatial patterns, temporal patterns and ecological processes. The effect of spatial configurations on ecological processes is fundamental. When human activity is an important variable affecting those relationships, landscape ecology includes it. Spatial and temporal scales are as large as needed for comprehension of system processes and the mosaic included may be very heterogeneous. Intellec tual utility and applicability of results are valued equally. The Inter national Association for Landscape Ecology sponsors this series of studies in order to introduce and disseminate some of the new knowledge that is being produced by this exciting new environmental science. Gray Merriam Ottawa, Canada Foreword This is a book about real nature, or as close to real as we know - a nature of heterogeneous landscapes, wild and humanized, fine-grained and coarse-grained, wet and dry, hilly and flat, temperate and not so temper ate. Real nature is never uniform. At whatever spatial scale we examine nature, we encounter patchiness. If we were to look down from high above at a landscape of millions of hectares, using a zoom lens to move in and out from broad overview to detailed inspection of a square meter we would see that patterns visible at different scales overlay one another.
Download or read book Medical Genetics What is MOSAICISM written by Dr.H.K.Saboowala. and published by Dr.Hakim Saboowala. This book was released on 2022-08-07 with total page 46 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics: What is MOSAICISM? When the fertilized egg begins to divide, it replicates its genetic material in cellular offspring. This cell replication builds and builds, creating tissues and organs in the body. In theory, each replicated cell should contain the exact same genetic information as the fertilized egg. However, this is not always the case. In rare instances, new genetic changes can occur in these replicated cells. These changes occur on the chromosomes, which are carry all of a person’s genetic information, located in each cell’s nucleus. Until recently, scientists thought the condition was straightforward—either a person had mosaicism or not. As genetic sequencing technology becomes more sophisticated, a picture is emerging in the field of genetics showing that we all have some amount of mosaicism. The more frequently mosaicism is found in the body, the greater likelihood a person can develop a health condition because of it. Thus, it is endeavoured in this E-Booklet to precisely discuss the followings: · How does Mosaicism occur? · Types of Mosaicism · Types of Disorders caused by Mosaicism along with ILLUSTRATIONS. · How is Mosaicism Diagnosed? · Use in Experimental Biology · Prognosis · Can Mosaicism be Prevented? …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)
Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
