Mouse Models of Developmental Genetic Disease PDF Download
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Author:
Publisher: Academic Press
ISBN: 0080922481
Category : Science
Languages : en
Pages : 528
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Book Description
Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies. - Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area - Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution - Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease
Author:
Publisher: Academic Press
ISBN: 0080922481
Category : Science
Languages : en
Pages : 528
Get Book Here
Book Description
Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies. - Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area - Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution - Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease
Author: Jerry J. Buccafusco
Publisher: CRC Press
ISBN: 1420041819
Category : Medical
Languages : en
Pages : 341
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Book Description
Using the most well-studied behavioral analyses of animal subjects to promote a better understanding of the effects of disease and the effects of new therapeutic treatments on human cognition, Methods of Behavior Analysis in Neuroscience provides a reference manual for molecular and cellular research scientists in both academia and the pharmaceutic
Author: National Research Council
Publisher: National Academies Press
ISBN: 0309070864
Category : Nature
Languages : en
Pages : 348
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Book Description
Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.
Author: Shree Ram Singh
Publisher: Humana
ISBN: 9781071610107
Category :
Languages : en
Pages : 217
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Book Description
Author: Magnus Michalsson
Publisher: World Scientific
ISBN: 9781860941580
Category : Medical
Languages : en
Pages : 190
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Book Description
"the book represents a remarkable achievement and a valuable contribution to the literature on this topic".The Veterinary Record, 2001
Author: Gema Perez-Chacon
Publisher: Frontiers Media SA
ISBN: 2889718964
Category : Medical
Languages : en
Pages : 202
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Book Description
Author: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Category : Science
Languages : en
Pages : 880
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Book Description
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Author: J. Robin Harris
Publisher: Springer Science & Business Media
ISBN: 9048186226
Category : Science
Languages : en
Pages : 641
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Book Description
Knowledge of cholesterol and its interaction with protein molecules is of fundamental importance in both animal and human biology. This book contains 22 chapters, dealing in depth with structural and functional aspects of the currently known and extremely diverse unrelated families of cholesterol-binding and cholesterol transport proteins. By drawing together this range of topics the Editor has attempted to correlate this broad field of study for the first time. Technical aspects are given considerable emphasis, particularly in relation cholesterol reporter molecules and to the isolation and study of membrane cholesterol- and sphingomyelin-rich "raft" domains. Cell biological, biochemical and clinical topics are included in this book, which serve to emphasize the acknowledged and important benefits to be gained from the study of cholesterol and cholesterol-binding proteins within the biomedical sciences and the involvement of cholesterol in several clinical disorders. It is hoped that by presenting this topic in this integrated manner that an appreciation of the fact that there is much more that needs to be taken into account, studied and understood than the widely discussed "bad and good cholesterol" associated, respectively, with the low- and high-density lipoproteins, LDL and HDL.
Author: Jacqueline N. Crawley
Publisher: John Wiley & Sons
ISBN: 0470119047
Category : Science
Languages : en
Pages : 544
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Book Description
Dr. Jacqueline N. Crawley, author of the First and Second Editions of What’s Wrong with My Mouse? Behavioral Phenotyping of Transgenic and Knockout Mice,continues to field calls and e-mails from molecular geneticists who ask: how do I run behavioral assays to find out what’s wrong with my mouse? Turn to What’s Wrong with My Mouse? to discover the wealth of mouse behavioral tasks and to get the guidance you need to select the best methods and necessary controls. Chapters are organized by behavioral domain, including measurements of general health, motor functions, sensory abilities, learning and memory, feeding and drinking, reproductive, social, emotional, and reward behaviors in mutant mice. Throughout the chapters, new behavioral tasks and new research discoveries have been added, bringing the Second Edition up to date with the latest science. In addition, the Second Edition includes two new chapters: "Neurodevelopment and Neurodegeneration" discusses mouse behavioral tasks relevant to neurodevelopmental diseases, such as mental retardation and autism, and to neurodegenerative diseases, such as Alzheimers, Parkinsons, Huntingtons, and amyotrophic lateral sclerosis. "Putting It All Together" recommends strategies for optimizing a battery of behavioral phenotyping tests to address your specific hypotheses about gene functions. The final chapter, "The Next Generation," examines new and emerging technologies. Throughout the book, the use of behavioral testing equipment is illustrated with photographs, diagrams, and representative data. Examples of behavioral tasks successfully applied to transgenic and knockout mouse models are provided, as well as references to the primary literature and step-by-step methods protocols. These features, along with a comprehensive index, listings of database and vendor websites, and an extensive list of references, make this book a valuable and practical resource for students and researchers.
Author: Cory Abate-Shen
Publisher:
ISBN: 9781621820031
Category : Medical
Languages : en
Pages : 0
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Book Description
The laboratory mouse is an important model for addressing questions in cancer biology. In recent years, the questions have become more refined, and mouse models are increasingly being used to develop and test cancer therapeutics. Thus, the need for more sophisticated and clinically relevant mouse models has grown, as has the need for innovative tools to analyze and validate them. This laboratory manual provides cutting-edge methods for generating and characterizing mouse models that accurately recapitulate many features of human cancer. The contributors describe strategies for producing genetic models, including transgenic germline models, gene knockouts and knockins, and conditional and inducible systems, as well as models derived using transposon-based insertional mutagenesis, RNA interference, viral-mediated gene delivery, and chemical carcinogens. Tissue recombination, organ reconstitution, and transplantation methods to develop chimeric, allograft, and xenograft models are covered. Approaches to characterize tumor development, progression, and metastasis in these models using state-of-the-art imaging, histopathological, surgical, and other techniques are also included. Other chapters cover the use of mouse models to test and optimize drugs in pre-, co-, and post-clinical trials. An appendix specifically addresses the use of mouse cancer models in translational studies and the integration of mouse and human clinical investigations. This manual is therefore an indispensable laboratory resource for all researchers, from the graduate level upwards, who study cancer and its treatment.
