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Author: Margaret A. Shupnik
Publisher: Springer Science & Business Media
ISBN: 159259221X
Category : Medical
Languages : en
Pages : 439
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Book Description
During the past five to ten years, a variety of tools has been developed in the disciplines of both gene engineering, and molecular and structural biology. Some of these advances have permitted scientists not only to identify and characterize genes, but also to target these genes by disruption, thus eliminating their function in living animals, and to det- mine the biological responses to altered gene products. This has particular significance in endocrine systems, in which feedback mechanisms between the hypothalamus, pi- itary, and end organs are critical in normal physiology. Interpretation of the physiological significance, or the site of action of specific molecules in this context, has been difficult prior to transgenic technology. Major advances have occurred specifically in the areas of growth and development, and of reproduction. Coupled with analysis of naturally occurring mutations in humans, the use of transgenic animals and in vitro systems has recently allowed endocrinologists to understand the importance of specific thyroid hormone receptor isoforms in vivo, the molecular basis for generalized resistance to thyroid hormones via mutations in the nuclear receptor, and mechanisms for suppressing gene transcription. Previously designated “orphan rec- tors,” such as steroidogenic factor-1, were demonstrated to have critical roles in dev- opment and reproduction. Other nuclear receptors—including those for thyroid hormone, estrogens, androgens, and progesterone—were shown to bind to coactivator and co- pressor proteins that modified their transcriptional activity, and contributed to the ce- specific effects of the hormones.
Author: Margaret A. Shupnik
Publisher: Springer Science & Business Media
ISBN: 159259221X
Category : Medical
Languages : en
Pages : 439
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Book Description
During the past five to ten years, a variety of tools has been developed in the disciplines of both gene engineering, and molecular and structural biology. Some of these advances have permitted scientists not only to identify and characterize genes, but also to target these genes by disruption, thus eliminating their function in living animals, and to det- mine the biological responses to altered gene products. This has particular significance in endocrine systems, in which feedback mechanisms between the hypothalamus, pi- itary, and end organs are critical in normal physiology. Interpretation of the physiological significance, or the site of action of specific molecules in this context, has been difficult prior to transgenic technology. Major advances have occurred specifically in the areas of growth and development, and of reproduction. Coupled with analysis of naturally occurring mutations in humans, the use of transgenic animals and in vitro systems has recently allowed endocrinologists to understand the importance of specific thyroid hormone receptor isoforms in vivo, the molecular basis for generalized resistance to thyroid hormones via mutations in the nuclear receptor, and mechanisms for suppressing gene transcription. Previously designated “orphan rec- tors,” such as steroidogenic factor-1, were demonstrated to have critical roles in dev- opment and reproduction. Other nuclear receptors—including those for thyroid hormone, estrogens, androgens, and progesterone—were shown to bind to coactivator and co- pressor proteins that modified their transcriptional activity, and contributed to the ce- specific effects of the hormones.
Author: Margaret A. Shupnik
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Recent advances in genetic engineering and molecular biology have made it possible to disrupt specific genes in order to determine and better understand their function and clinical significance. In Gene Engineering in Endocrinology, Margaret Shupnik and a team of leading investigators review the most recent breakthroughs, emphasizing how studies of natural mutations and gene knockouts have illuminated endocrine processes. Using both animal and human model data, these authoritative researchers examine in depth the molecular basis of development, growth, and reproductive processes, the specific mutations that explain certain genetic syndromes, the hormonal regulation of gene expression (which affects the treatment of infertility and steroid-dependent cancers), and current research directions. When possible, molecular studies are compared with naturally occurring human and animal gene mutations to establish the difference between complete elimination of, or an altered, gene function. Comprehensive and up-to-date, Gene Engineering in Endocrinology offers today's experimental and clinical endocrinologists, as well as reproductive biologists, a richly informative survey of what has already been accomplished with the genetic engineering of hormone processes and hormone-related genetic syndromes-research that promises powerful new experimental and therapeutic opportunities as this field continues it rapid development.
Author: John D. Baxter
Publisher: Lippincott Raven
ISBN:
Category : Medical
Languages : en
Pages : 792
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Book Description
An extensive body of evidence highlights the crucial importance of endocrine genetics. Examples range from human growth disorders and obesity to cancers of the prostate and breast. A pivotal part of the Modern Endocrinology Series, this book presents major biological studies underlining the significance of data obtained from knock-out mice, as well as from transgenic animals. Gene therapy and laboratory evaluation and screening of genetic endocrine diseases are covered, as are many of the classical endocrine diseases.
Author: Maria G. Castro
Publisher: Springer Science & Business Media
ISBN: 1461516331
Category : Medical
Languages : en
Pages : 294
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Book Description
The dramatic recent expansion in genomic information has motivated the development of new approaches to characterize gene expression and function. A critical issue for both basic and clinical endocrinologists is the physiological role of genes involved in regulating endocrine functions. Transgenic technologies allow the translation of genotypic information into specific phenotypes by using gene overexpression or loss of specific gene functions. Murine functional genomics is thus of central importance in modem biomedical endocrine research. Although mice are at present, the preferred mammalian species for genetic manipulations because of the availability of pluripotent embryonic. stem cells and inbred strains and the relatively low breeding and maintenance costs, transgenic rats have also been generated and used to study endocrine physiology. The two basic techniques used in the creation of transgenic animal models are integration of foreign DNA into a fertilized oocyte by random chromosomal insertion and homologous recombination in embryonic stem cells that are then introduced into zygotes. Transgenic mice and rats serve as sophisticted tools to probe protein function, as models of human disease, and as hosts for the testing of gene replacement and other therapies. Embryonic stem cell libraries for mouse gene deletion are being developed, which will make it possible to generate knockout mice rapidly and without the need to analyze gene structure, construct targeting vectors, and screen embryonic stem cell clones. A novel approach to transgenesis for the expression of DNA within adult differentiated neuroendocrine cells in vivo is using viral vectors.
Author: Martin Matzuk
Publisher: Springer Science & Business Media
ISBN: 1592591027
Category : Medical
Languages : en
Pages : 485
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Book Description
A panel of expert clinical and basic investigators summarize the state-of-the-art in the use of transgenic technology in a broad range of endocrinological applications. Up-to-date and comprehensive, Transgenics in Endocrinology reviews the most recent developments in the analysis of endocrine physiology and its pathologies through mouse models, and provides a host of creative approaches to understand better the complex processes that are characteristic of hormonal systems.
Author: Roy E. Weiss
Publisher: Academic Press
ISBN: 0080922287
Category : Medical
Languages : en
Pages : 343
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Book Description
Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia? The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases. - Selected for inclusion in Doody's Core Titles 2013, an essential collection development tool for health sciences libraries - Presents a comprehensive, translational look at all aspects of genetic diagnosis of endocrine disorders in one reference work - Endocrinology experts (the researchers who discovered the majority of the gene mutations for a particular disease) teach readers about the molecular basis for diseases in each major endocrine organ system - Clear presentation by geneticists of pharmacogenetics and the actual assays used in detecting endocrine diseases - Genetic counselors offer expert advice on how to use genetic information in counseling patients
Author: Reinhard G. Bretzel
Publisher:
ISBN:
Category :
Languages : en
Pages : 35
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Book Description
Author: Benjamin Glaser
Publisher: Remedica Books
ISBN:
Category : Endocrine genetics
Languages : en
Pages : 436
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Book Description
This text was conceived as a tool to address the problems encountered by an endocrinologist when sureveying the wealth of information available from the past two decades of genetic research. The ability to pinpoint genetic defects responsible for a specific endocrine disorder opens the possibility of faster and simpler diagnosis, improved understanding of disease mechanisms, and development of new treatment modalities. However, the abundance of information attained may be so overwhelming that the practicing physician may be unable to apply this knowledge to the daily routine of clinical practice.
Author: Yun-Fai Lau
Publisher: Oxford University Press, USA
ISBN:
Category : Medical
Languages : en
Pages : 252
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Book Description
The application of recombinant DNA techniques to endocrinology is an exciting area of biomedical research. These and other new methods have made it possible to clone many endocrine genes--such as those for insulin and growth hormone--to determine their nucleatide sequences, and to study their expression both in vitro and in vivo. Derived from a series of molecular endocrinology research seminars, this book covers the basics of gene cloning, structural analysis and the regulation of gene expression in selected endocrine systems. The first part focuses on analytical methods and experimental approaches, including DNA-mediated gene transfer, identification of tissue-specific transcription factors and regulatory sequences, in situ hybridization of mRNA, and gene mapping on human chromosomes. The second part presents molecular studies of various endocrine systems, each combining different approaches.
Author: National Research Council
Publisher: National Academies Press
ISBN: 0309166152
Category : Science
Languages : en
Pages : 254
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Book Description
Assists policymakers in evaluating the appropriate scientific methods for detecting unintended changes in food and assessing the potential for adverse health effects from genetically modified products. In this book, the committee recommended that greater scrutiny should be given to foods containing new compounds or unusual amounts of naturally occurring substances, regardless of the method used to create them. The book offers a framework to guide federal agencies in selecting the route of safety assessment. It identifies and recommends several pre- and post-market approaches to guide the assessment of unintended compositional changes that could result from genetically modified foods and research avenues to fill the knowledge gaps.
