Protein Dysfunction in Human Genetic Disease PDF Download
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Author: D M Swallow
Publisher: Taylor & Francis
ISBN: 104028227X
Category : Medical
Languages : en
Pages : 372
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Book Description
Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.
Author: D M Swallow
Publisher: Taylor & Francis
ISBN: 104028227X
Category : Medical
Languages : en
Pages : 372
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Book Description
Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.
Author: The Royal Society
Publisher: National Academies Press
ISBN: 0309671132
Category : Medical
Languages : en
Pages : 239
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Book Description
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.
Author: Ajit Varki
Publisher: CSHL Press
ISBN: 9780879696818
Category : Medical
Languages : en
Pages : 694
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Book Description
Sugar chains (glycans) are often attached to proteins and lipids and have multiple roles in the organization and function of all organisms. "Essentials of Glycobiology" describes their biogenesis and function and offers a useful gateway to the understanding of glycans.
Author: National Research Council
Publisher: National Academies Press
ISBN: 0309038405
Category : Science
Languages : en
Pages : 128
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Book Description
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Author: B.A. Ponder
Publisher: Springer Science & Business Media
ISBN: 9401106770
Category : Medical
Languages : en
Pages : 222
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Book Description
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Author: Edward F. McCarthy
Publisher: Cambridge University Press
ISBN: 1107041236
Category : Medical
Languages : en
Pages : 385
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Book Description
Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.
Author: Kenneth Maiese
Publisher: Academic Press
ISBN: 012802755X
Category : Science
Languages : en
Pages : 474
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Book Description
Molecules to Medicine with mTOR: Translating Critical Pathways into Novel Therapeutic Strategies is a one-stop reference that thoroughly covers the mechanistic target of rapamycin (mTOR). mTOR, also known as the mammalian target of rapamycin, is a 289-kDa serine/threonine protein kinase that is ubiquitous throughout the body and has a critical role in gene transcription and protein formation, stem cell development, cell survival and senescence, aging, immunity, tissue regeneration and repair, metabolism, tumorigenesis, oxidative stress, and pathways of programmed cell death that include apoptosis and autophagy. Incorporating a translational medicine approach, this important reference highlights the basic cellular biology of mTOR pathways, presents the role of mTOR during normal physiologic function and disease, and illustrates how the mechanisms of mTOR can be targeted for current and future therapeutic treatment strategies. Coverage of mTOR signaling includes the entire life cycle of cells that impacts multiple systems of the body including those of nervous, cardiovascular, immune, musculoskeletal, endocrine, reproductive, renal, and respiratory origin. - Covers the role of mTOR by internationally recognized expert contributors in the field. - Provides a clear picture of the complexity of mTOR signaling as well as of the different approaches that could target this pathway at various levels. - Includes analysis of the role of mTOR and in both health and disease. - Serves as an important resource for a broad audience of healthcare providers, scientists, drug developers, and students in both clinical and research settings.
Author: Rob Elles
Publisher: Springer Science & Business Media
ISBN: 1592594328
Category : Medical
Languages : en
Pages : 392
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Book Description
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Author: D. M. Swallow
Publisher: Garland Science
ISBN: 9781859960363
Category : Science
Languages : en
Pages : 258
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Book Description
Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. In almost all cases where disease genes have been cloned, the mutations in the DNA sequence which are responsible for the clinical phenoty
Author: Shaul Massry
Publisher: Springer Science & Business Media
ISBN: 1461342171
Category : Medical
Languages : en
Pages : 611
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Book Description
We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.
