Genetics Of Bone Biology And Skeletal Disease
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Genetics of Bone Biology and Skeletal Disease
This book 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 evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder. Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.
Genetics of Bone Biology and Skeletal Disease
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
Diabetes and Endocrine E-Book
Author: Derek G. Waller
language: en
Publisher: Elsevier Health Sciences
Release Date: 2016-09-13
Diabetes & Endocrine is a new e-book in a collection of subject-themed e-books containing relevant key articles from Medicine. The e-books provide a perfect source of revision for post-graduate exams in clinical medicine and portfolio material for life-long learning. As well as mapping to the UK Core Medical Training curriculum, these e-books also enable anyone with a short-term interest in a specific area to buy individual articles at a price-point that will give affordable access to all readers (from medical students to GPs and practitioners in related areas). The quality of user experience on mobiles, tablets and laptops will be an added bonus for learning on the move. The whole board has been involved in the creation of this content and are therefore listed as authors on all the e-books. In addition we extend our warm thanks for their contribution to these e-books to the past Chairman Allister Vale (who stepped down from the board in 2015) and to John Mucklow, who stepped down in 2016. Derek Waller, on behalf of the Editorial Board About the journal The parent journal (www.medicinejournal.co.uk) is a rolling, continuously updated review of clinical medicine over a 4-year cycle covering all the important topics for core medical training. Its Editorial Board comprises some of Europe’s most influential specialists. The journal’s articles are refreshed, updated, augmented or replaced as appropriate each time the subject is due for revision to provide a concise overview of knowledge and practice core to the curriculum. Each article is written by invited experts and overseen by the relevant subject specialist on the Board. A trainee representative on the Board ensures relevance and accessibility for exam candidates. About the Medicine journal e-books Diabetes & Endocrine is a new e-book in a collection of subject-themed e-books containing relevant key articles from Medicine. The e-books provide a perfect source of revision for post-graduate exams in clinical medicine and portfolio material for life-long learning. As well as mapping to the UK Core Medical Training curriculum, these e-books also enable anyone with a short-term interest in a specific area to buy individual articles at a price-point that will give affordable access to all readers (from medical students to GPs and practitioners in related areas). The quality of user experience on mobiles, tablets and laptops will be an added bonus for learning on the move. The whole board has been involved in the creation of this content and are therefore listed as authors on all the e-books. In addition we extend our warm thanks for their contribution to these e-books to the past Chairman Allister Vale (who stepped down from the board in 2015) and to John Mucklow, who stepped down in 2016. Derek Waller, on behalf of the Editorial Board About the journal The parent journal (www.medicinejournal.co.uk) is a rolling, continuously updated review of clinical medicine over a 4-year cycle covering all the important topics for core medical training. Its Editorial Board comprises some of Europe’s most influential specialists. The journal’s articles are refreshed, updated, augmented or replaced as appropriate each time the subject is due for revision to provide a concise overview of knowledge and practice core to the curriculum. Each article is written by invited experts and overseen by the relevant subject specialist on the Board. A trainee representative on the Board ensures relevance and accessibility for exam candidates.