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Genetics of Bone Biology and Skeletal Disease

  • ID: 1951551
  • Book
  • 634 Pages
  • Elsevier Science and Technology
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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.

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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

- Gsa, 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
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Thakker, Rajesh V.
Rajesh Vasantlal Thakker FRS FMedSci FRCPath FRCPE FRCP is May Professor of Medicine in the Nuffield Department of Clinical Medicine at the University of Oxford and a Fellow of Somerville College, Oxford.[13] Thakker is also a Consultant physician at the Churchill Hospital and the John Radcliffe Hospital, Principal Investigator (PI) at the Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) and was Chairman of the Efficacy and Mechanism Evaluation (EME) Board until Spring 2016.
Whyte, Michael P.
Eisman, John
Igarashi, Takashi
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