Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease PDF 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

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease PDF Author: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Category : Science
Languages : en
Pages : 880

Get Book Here

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

Novel Insights into the Genetics of Growth Disorders

Novel Insights into the Genetics of Growth Disorders PDF Author: Mara Giordano
Publisher: Frontiers Media SA
ISBN: 2889763412
Category : Science
Languages : en
Pages : 91

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Book Description


Rare immune-mediated diseases- novel insights into underlying mechanisms and therapeutic approaches

Rare immune-mediated diseases- novel insights into underlying mechanisms and therapeutic approaches PDF Author: Yuval Tal
Publisher: Frontiers Media SA
ISBN: 2832533582
Category : Medical
Languages : en
Pages : 161

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Book Description


Essentials of Glycobiology

Essentials of Glycobiology PDF 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.

Identification of New Molecular Mechanisms of Bone Disease

Identification of New Molecular Mechanisms of Bone Disease PDF Author: Andrea Del Fattore
Publisher: Frontiers Media SA
ISBN: 2889768481
Category : Science
Languages : en
Pages : 170

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Book Description


Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309133815
Category : Social Science
Languages : en
Pages : 384

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Book Description
Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.

The Charnolosome as a Novel Nanothereranostic Biomarker

The Charnolosome as a Novel Nanothereranostic Biomarker PDF Author: Sushil Sharma
Publisher: Elsevier
ISBN: 044321753X
Category : Science
Languages : en
Pages : 970

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Book Description
The Charnolosome as a Novel Nanothereranostic Biomarker: Overcoming Future Challenges in Medicine provides an overview of the charnolosome and its potential as a biomarker of cell injury. Based on the author's original discovery of the charnoly body in the developing, undernourished rat cerebellar Purkinje neurons, this book delves into the potential for utilizing this mitochondria and lysosomal-derived intracellular organelle as a nanotheranostic biomarker to prevent and cure various diseases. The book discusses the cellular, molecular, genetic, and epigenetic mechanisms of charnolosomes and charnolosome-derived nano-vesicles. It also investigates the molecular mechanisms underlying auto-inflammatory, autoimmune, and infectious diseases resulting from their compromised mitochondrial bioenergetics, and the potential use of the charnolosome in preventing and curing such conditions. - Shares the latest knowledge on the charnolosome and charnolosome-derived nano-vesicles and their significance at a cellular and molecular level - Considers the charnolosome in relation to a range of conditions, including neurodegenerative, metabolic, and multi-drug resistant systemic diseases - Presents future perspectives of the charnolosome in personalized nanotheranostics

Osteogenesis Imperfecta

Osteogenesis Imperfecta PDF Author: Javaid Kassim
Publisher: Academic Press
ISBN: 0123977894
Category : Medical
Languages : en
Pages : 578

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Book Description
Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. - Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult - Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI - Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future - Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI

Novel Insights into Inflammatory Roles of Mast Cells and Basophils

Novel Insights into Inflammatory Roles of Mast Cells and Basophils PDF Author: Satoshi Tanaka
Publisher: Frontiers Media SA
ISBN: 2832521215
Category : Medical
Languages : en
Pages : 353

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Book Description


Molecular Biology of the Cell

Molecular Biology of the Cell PDF Author:
Publisher:
ISBN: 9780815332183
Category : Cells
Languages : en
Pages : 0

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Book Description