Nuclear Receptors and Genetic Disease PDF Download

Author: Thomas P. Burris
Publisher: Academic Press
ISBN: 0080917143
Category : Medical
Languages : en
Pages : 437

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Book Description
Nuclear Receptors and Genetic Disease provides the first compilation of the role of nuclear hormones in health and disease and incorporates the latest breakthroughs in the field. It provides comprehensive reviews of the major receptors prepared by the acknowledged experts in each area. Each chapter provides information on the history, physiology, structure, mechanism of action, genetics, pathophysiology, disease diagnosis, and disease treatment for a particular nuclear receptor. Each chapter also includes a table showing all the known mutations of the respective nuclear receptor with the corresponding clinical disorder. Receptors included in this book are: The Nuclear Receptor Superfamily Thyroid Hormone Receptors Estrogen and Progesterone Receptors The Androgen Receptor DAX-1 and Related Orphan Receptors The Vitamin D Receptor Retinoid Receptors Mineralocorticoid and Glucocorticoid Receptors Hepatocyte Nuclear Factor 4 a Peroxisome Proliferator Activated Receptors Coactivators and Corepressors

Author: Moray J. Campbell
Publisher: Springer Nature
ISBN: 3031118367
Category : Medical
Languages : en
Pages : 338

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Book Description
This book addresses and dissects the roles and crosstalk mechanisms for the 48 human nuclear receptors (NR) in human health and disease. After a State-of-the-Art introduction by an undisputed and celebrated field leader to provide an overview of the field and its significance, chapters are organized into six sections. The first three sections discuss NR roles in Reproduction & Development, Metabolism and Central Systems. These present to the reader our current understanding of NR signaling in the development and functioning of the reproductive system; the roles in the regulation of energy metabolism; and how NR signaling is more widely integrated into systemic functions from calcium flux to circadian rhythm. The subsequent three sections dissect how aberrant NR functions drive Cancer; how new insights into Genomic Interaction are helping to reveal how NR disruption drives disease; and finally, how Translational Efforts are exploiting this understanding from developing novel NR ligands to establishing how underlying genetic variation impacts NR function. Within these sections the chapters also illustrate emerging understanding of how the epigenome and non-coding genome combine to regulate NR function and impact dysfunction. Increasingly these insights cross-fertilize over cell and disease boundaries and it is unsurprising that NR are being explored in novel and new arenas such as the context of neurological disorders and depression. Thus, there is wide scope for re-purposing of licensed drugs and development of new NR-targeting therapies for a host of conditions and diseases. This unique book brings together many of the leading figures in NR research from across the globe, to discuss emerging roles and their implications for human health and disease. It summarizes the state of the art and shows signposts for future research to further shape this influential field.

Author: David M. Lonard
Publisher: Elsevier Inc. Chapters
ISBN: 0128072997
Category : Medical
Languages : en
Pages : 37

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Book Description
Nuclear receptors are transcription factors that bind steroid, retinoid and thyroid hormones, and other ligands to drive hormone-dependent gene expression in conjunction with co-activators and co-repressors, collectively referred to as co-regulators. So far, more than 400 co-regulators have been reported in the literature and they have been implicated in a wide variety of pathological conditions, genetic syndromes, and in cancer. A key feature of co-regulator-based disease is the pleiotropic effects that disruption of normal co-regulator function has on energy metabolism, neurological function, and susceptibility to cancer. Technological advances in proteomics, genomics, and transcriptomics are leading to new ways to understand the pleiotropic actions of co-regulators. We expect that co-regulator ‘omics’ will lead to ways of understanding how co-regulators can be evaluated in the context of other complex genetic factors, hormones, diet, the environment, and stress. The broad role that co-regulators have in human pathological conditions makes it important to consider them as important new drug targets, such as for the treatment of hormone-dependent cancers or for indications related to energy metabolism. Better system-wide knowledge of co-regulator control of transcription and physiology is expected to lead to the best placement for future co-regulator-based therapies.

Author: Iain J. McEwan
Publisher: Springer
ISBN: 3319187295
Category : Medical
Languages : en
Pages : 236

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Book Description
Nuclear Receptors focuses on the structural analysis of nuclear receptors from the initial work using isolated protein domains to the more recent exciting developments investigating the conformational shape of full-length receptor complexes. The book also reviews the structure of key nuclear receptor co-regulatory proteins. It brings together, for the first time, a comprehensive review of nuclear receptor structure and the importance of receptor conformation underpinning allosteric regulation by different ligands (hormone, drugs, DNA response elements, protein-protein interactions) and receptor activity. The nuclear receptor superfamily, including receptors for steroid hormones and non-steroid ligands, are pivotal to normal physiology, regulating processes as diverse as reproduction, metabolism, the immune system and brain development. The first members of the family were cloned over 25 years ago, which heralded in the idea of a superfamily of intracellular receptor proteins that bound small molecule ligands: classical steroid hormones, vitamins, fatty acids and other products of metabolism. These signals are then transmitted through multiprotein receptor-DNA complexes, leading to the regulation of target genes, often in a cell-selective manner. The cloning of the receptor cDNAs also ushered in an era of unparalleled analysis of the mechanisms of action of these ligand-activated transcription factors. ​

Author: Rakesh Kumar
Publisher: World Scientific
ISBN: 9814476056
Category : Medical
Languages : en
Pages : 615

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Book Description
This book serves as a treasure for all those who have an interest in nuclear receptor coregulators and human diseases. Written by experts in the field, each chapter provides comprehensive, up-to-date information on the physiologic and pathologic roles of coregulators in specific organ systems, giving biomedical students; basic and clinical researchers; and educators in diverse sub-specialties a thorough summary of the overall subject. Readers will be able to understand the important current information and views on specific coactivators and corepressors and their roles in the pathogenesis of human diseases in areas outside their own expertise or experience. A special emphasis is placed on the “classic” papers as well as perspectives on future directions for the field.

Author: Chris M. Bunce
Publisher: Springer Science & Business Media
ISBN: 9048133033
Category : Medical
Languages : en
Pages : 456

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Book Description
In 1890 a case of myxedema was treated in Lisbon by the implantation of a sheep thyroid gland with the immediate improvement in the patient’s condition. A few years later, medications for the then ill-explained condition of the menopause included tablets made from cow ovaries. In the first quarter of the 20th century the identification of vitamin D, and its sunlight driven production in skin, paved the way to the elimination of rickets as a major medical problem. Twenty years or so later, Sir Vincent Wigglesworth established the endocrine basis of developmental moulting in insects, arguably the most commonly performed animal behaviour on Planet Earth. A paradigm that would unify these disparate observations arose between 1985 and 1987 beginning with the identification of the glucocorticoid receptor and the nuclear receptor super-family. What follows is a timely and positive manifestation of the capacity, productivity and value of international human scientific endeavour. Based on intrigue, lively competition and cooperation a global effort has rapidly fostered a school of biology with widespread ramifications for the understanding of metazoan animals, the human condition and the state of the planet. This book is the first this century to try and capture the spirit of this endeavour, to depict where the field is now and to identify some of the challenges and opportunities for the future.

Author: Vincent Laudet
Publisher: Gulf Professional Publishing
ISBN: 9780124377356
Category : Medical
Languages : en
Pages : 486

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Book Description
The FactsBook Series has established itself as the best source of easily accessible and accurate facts about protein groups. They use an easy-to-follow format and are researched and compiled by experts in the field. This Factsbook is devoted to nuclear receptors. The first section presents an introduction and describes the mode of action of the receptors in general. The second section of the book contains detailed entries covering each type of receptor. Entries provide information on: Nomenclature and structure, Isolation, DNA binding properties, Ligands, Expression, Target genes, Knockouts, Disease association, Gene structure, promoter and isoforms, Chromosomal location, Amino acid sequences, Key references

Author:
Publisher: Academic Press
ISBN: 0128021969
Category : Science
Languages : en
Pages : 422

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Book Description
Nuclear Receptors in Development and Disease, Volume 125, the latest volume in the Current Topics in Developmental Biology series, covers nuclear receptors in development and disease, and includes contributions from an international board of authors. New chapters in this release cover the Evolution of Nuclear Receptors and Ligand Signaling: Towards a Soft Key–Lock Model?, The Function and Evolution of Nuclear Receptors in Insect Embryonic Development, Nuclear Receptors in Skeletal Homeostasis, Estrogen Hormone Biology, and the Mechanisms of Glucocorticoid Action During Development. The book's chapters provide a comprehensive set of reviews that cover such topics as nuclear differentiation and remodeling, evolution of receptors, ligand signaling and neural development. Covers the area of nuclear receptors in development and disease Includes contributions from an International board of authors Provides a comprehensive set of reviews on topics as nuclear differentiation and remodeling, evolution of receptors, ligand signaling and neural developments

Author: J.L. Junien
Publisher: IOS Press
ISBN: 1607503271
Category : Medical
Languages : en
Pages : 128

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Book Description
Nuclear receptors are a family of transcription factors consisting of 49 members identified in the human genome. Nuclear receptors regulate transcription by binding to response elements in the regulatory regions of target genes and thereby affect expression of genes involved in differentiation, growth, lipid homeostasis, inflammation and immunity. Over the past two decades significant advances have been made in the understanding of the regulation of gene expression by nuclear receptors. The knowledge on nuclear receptors has delivered novel therapies for lipid control and hormone replacement, and for management of cancer and diabetes. Therefore, nuclear receptors are attractive molecular targets for design of therapy for diabetes, obesity, atherosclerosis, cancer, inflammation and neurodegeneration. The focus of this volume is centered on the mechanistic involvement of nuclear receptors in cardiological, metabolic and neurological disorders, on possible explanation of pathways involved in pathogenesis, on susceptibility to and prevention of metabolic and neurological disorders and on the aspects of drug finding including chemistry and rational drug design. This volume reviews recent progress on nuclear receptors critically and will intrigue those pursuing interest in physiology, pathology and medicine.

Author: Iain J. McEwan, PhD
Publisher: Humana Press
ISBN: 9781603275743
Category : Science
Languages : en
Pages : 0

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Book Description
Acting principally to control patterns of gene expression, nuclear receptors play vital roles during embryonic development and in the regulation of metabolic and reproductive functions in adult life, which proves this superfamily of ligand-activated transcription factors to be a crucial part of biological life. In The Nuclear Receptor Superfamily: Methods and Protocols, expert researchers describe a range of molecular, structural and cell biological techniques currently used to investigate the structure-function of nuclear receptors, together with experimental approaches that may lead to new therapeutic strategies for treating nuclear receptor-associated diseases. Written in the highly successful Methods in Molecular BiologyTM series format, the chapters in this volume contain brief introductions to the topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, as well as notes from the experts to highlight tips on troubleshooting and avoiding known pitfalls. Cutting-edge and easy to use, The Nuclear Receptor Superfamily: Methods and Protocols provides beneficial and time-saving guidance for all those undertaking research in this ever-growing field of study.