Genetics of Bone Biology and Skeletal Disease

Rajesh V. Thakker 지음

elsevier 2012년 12월 31일 출간

작품소개

책소개

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.

목차

Part I: General Background to Bone Biology Biology of Bone and Cartilage Brendan Boyce, Michael Zuscik, Lianping Xing Overview of Bone Structure and Strength Mary L. Bouxsein Overview of Joint and Cartilage Biology Frank Luyten and Rik JU Lories Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein T. John Martin and Natalie A. Sims Energy Homeostasis and Neuronal Regulation of Bone Remodeling Gerard Karsenty, Mathieu Ferron and Franck Oury Neuropeptide Y and Bone Regulation Paul A. Baldock Part II: General Background to Genetics Genome-wide Association Studies Matthew Brown and Emma L. Duncan Genomic Profiling in Bone Gabriela G. Loots and Bryan D. Hudson Copy Number Variation Hong-Wen Deng, Tie-Lin Yang, Yan Guo and Christopher J. Papasian Prospects of Gene Therapy Brendan Lee, Merry ZC Ruan and Kilian Guse Pharmacogentics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook Tuan V. Nguyen and John A. Eisman Genetic Testing & Counselling Ingrid A. Holm, Christina M. Jacobsen, Yiping Shen and Stephanie J. Brewster Mouse models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis Sian E. Piret and Rajesh V. Thakker Fetal Control of Calcium and Phosphate Homeostasis ？？ Lessons from Mouse Models Christopher S. Kovacs Control of Skeletal Homeostasis during Pregnancy and Lactation ？？ Lessons from Physiological Models Ch

출판사 서평

"With the aims of identifying and analyzing the genetic basis of bone disorders in humans and of demonstrating the utility of mouse models, this volume presents 36 chapters that are inter-related, yet self-contained, with some overlap. Coverage is comprehensive."--Reference and Research BookNews.com, April 2013 "The last ten years have witnessed an explosion in genomics and through its application to bone biology, the identification of novel potential targets for therapeutic interventions in bone diseases, such as osteoporosis. This textbook is therefore very timely and integrates a review of bone biology with the genetics of bone and joint disorders, parathyroid and related disorders, and vitamin D and renal diseases. The section on osteoporosis genes identified by genome-wide association studies is particularly useful and effectively summarises a subset of the at least 56 loci that have shown a robust association with BMD at genome-wide significant level and have been replicated. Although these genes explain only about 4% of the variation in BMD and cannot be used to improve fracture risk prediction, they have pinpointed many factors in critical molecular pathways in bone that provide promising candidates for novel therapeutic interventions. The section on genetic disorders of vitamin D synthesis and action elegantly shows how the study of affected children with 1a-hydroxylase deficiency and hereditary vitamin D resistant rickets continues to provide a more complete understanding of the biological role of 1,25(OH)2D in vivo. In conclusion, if you want to find one place to "bone up" on the genetics of skeletal disease, this is the book for you!"--Professor Peter R. Ebeling MD FRACP, The University of Melbourne, Melbourne, Australia "This book brings together the world？？s most expert bone biologists, clinicians and geneticists to provide a cutting-edge review of bone from a genetic perspective. It provides a well

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저자(글) Rajesh V. Thakker