Beschreibung:
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
Christopher S. Kovacs
Part III: Disorders of Bone and Joint
Osteogenesis Imperfecta
Joan Marini and M. Helen Rajpar
Osteoporosis Genes Identified by Genome-wide Association Studies
Andre Uitterlinden and Fernando Rivadenerira
Osteoarthritis - Genetic Studies of Monogenic and Complex Forms
Ana M. Valdes
Paget's Disease
Stuart H. Ralston and Omar M.E. Albagha
Heritable Disorders of RANKL, OPG, RANK and NF-KB Signalling
Michael Whyte
Skeletal Dysplasias
William G. Cole
Hypophosphatasia
Michael P. Whyte
Sclerosing Bone Disorders
Bram Perdu and Wim Van Hul
Fibrodysplasia (Myositis) Ossificans Progressiva
Andria L. Culbert, Salin A. Chakkalakal, Michael R. Convente, Vitali Y. Lounev, Frederick S. Kaplan and Eileen M. Shore
Part IV: Parathyroid and Related Disorders
Hyperparathyroidism
Andrew Arnold and Jessica Costa-Guda
Hypoparathyroidism
Rajesh V. Thakker
G s a, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome
Lee S. Weinstein, Allen M. Spiegel and Michael Collins
Genetic disorders affecting PTH/PTHrP receptor function
Harald Jueppner and Caroline Silve
Genetically Determined Disorders of the Calcium-Sensing Receptor
Edward M. Brown and Ogo I. Egbuna
Multiple Endocrine Neoplasia Type 1 (MEN1)
Rajesh V. Thakker
Multiple Endocrine Neoplasia Type 2 (MEN2)
Bruce Robinson, Rory Clifton-Bligh and Matti Gild
Part V: Vitamin D and Renal Disorders
Heritable Renal Phosphate Wasting Disorders
Marc K. Drezner
Genetic Disorders of Vitamin D Synthesis and Action
David Feldman, Peter Malloy and Walter L. Miller
Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome
Olivier Devuyst and Takashi Igarashi
Inherited Magnesium Disorders
Scott J. Schurman, Dhruval Patel, Anil Singh and Steven J. Scheinman
Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones
David Bushinsky and Orson W. Moe
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.