Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease, 1st Edition

Genetics of Bone Biology and Skeletal Disease, 1st Edition,Rajesh Thakker,Michael Whyte,John Eisman,Takashi Igarashi,ISBN9780123878298

Thakker   &   Whyte   &   Eisman   &   Igarashi   

Academic Press




276 X 216

Comprehensive translational reference focusing on identifying and analysing the genetic basis of bone disorders in humans that will further the knowledge of mechanisms and evaluations in the treatment of bone disorders.

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Key Features

  • 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.


    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.


    Primary: Academic, medical, and pharmaceutical researchers in bone biology, clinical genetics, rheumatology, endocrinology, osteology; Secondary: Clinicians who threat metabolic bone diseases and musculoskeletal disorders (endocrinologists, rheumatologists, osteologists) and offer genetic counseling.

    Rajesh Thakker

    Affiliations and Expertise

    May Professor of Medicine, Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK.

    Michael Whyte

    Affiliations and Expertise

    Professor of Medicine, Pediatrics, and Genetics, Washington University in St. Louis School of Medicine; Medical-Scientific Director, Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, USA

    John Eisman

    Affiliations and Expertise

    Director of Bone Research Program, Garvan Institute of Medical Research, Professor of Medicine, University of New South Wales, Australia

    Takashi Igarashi

    Affiliations and Expertise

    Department of Pediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai, Japan; past president of ISN and Japanese Pediatric Association

    Genetics of Bone Biology and Skeletal Disease, 1st Edition

    Part I: General Background to Bone Biology

    1. Biology of Bone and Cartilage
    2. Brendan Boyce, Michael Zuscik, Lianping Xing

    3. Overview of Bone Structure and Strength
    4. Mary L. Bouxsein

    5. Overview of Joint and Cartilage Biology
    6. Frank Luyten and Rik JU Lories

    7. Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein
    8. T. John Martin and Natalie A. Sims

    9. Energy Homeostasis and Neuronal Regulation of Bone Remodeling
    10. Gerard Karsenty, Mathieu Ferron and Franck Oury

    11. Neuropeptide Y and Bone Regulation
    12. Paul A. Baldock

      Part II: General Background to Genetics

    13. Genome-wide Association Studies
    14. Matthew Brown and Emma L. Duncan

    15. Genomic Profiling in Bone
    16. Gabriela G. Loots and Bryan D. Hudson

    17. Copy Number Variation
    18. Hong-Wen Deng, Tie-Lin Yang, Yan Guo and Christopher J. Papasian

    19. Prospects of Gene Therapy
    20. Brendan Lee, Merry ZC Ruan and Kilian Guse

    21. Pharmacogentics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook
    22. Tuan V. Nguyen and John A. Eisman

    23. Genetic Testing & Counselling
    24. Ingrid A. Holm, Christina M. Jacobsen, Yiping Shen and Stephanie J. Brewster

    25. Mouse models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis
    26. Sian E. Piret and Rajesh V. Thakker

    27. Fetal Control of Calcium and Phosphate Homeostasis – Lessons from Mouse Models
    28. Christopher S. Kovacs

    29. Control of Skeletal Homeostasis during Pregnancy and Lactation – Lessons from Physiological Models
    30. Christopher S. Kovacs

      Part III: Disorders of Bone and Joint

    31. Osteogenesis Imperfecta
    32. Joan Marini and M. Helen Rajpar

    33. Osteoporosis Genes Identified by Genome-wide Association Studies
    34. Andre Uitterlinden and Fernando Rivadenerira

    35. Osteoarthritis – Genetic Studies of Monogenic and Complex Forms
    36. Ana M. Valdes

    37. Paget’s Disease
    38. Stuart H. Ralston and Omar M.E. Albagha

    39. Heritable Disorders of RANKL, OPG, RANK and NF-KB Signalling
    40. Michael Whyte

    41. Skeletal Dysplasias
    42. William G. Cole

    43. Hypophosphatasia
    44. Michael P. Whyte

    45. Sclerosing Bone Disorders
    46. Bram Perdu and Wim Van Hul

    47. Fibrodysplasia (Myositis) Ossificans Progressiva
    48. 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

    49. Hyperparathyroidism
    50. Andrew Arnold and Jessica Costa-Guda

    51. Hypoparathyroidism
    52. Rajesh V. Thakker

    53. Gsa, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome
    54. Lee S. Weinstein, Allen M. Spiegel and Michael Collins

    55. Genetic disorders affecting PTH/PTHrP receptor function
    56. Harald Jueppner and Caroline Silve

    57. Genetically Determined Disorders of the Calcium-Sensing Receptor
    58. Edward M. Brown and Ogo I. Egbuna

    59. Multiple Endocrine Neoplasia Type 1 (MEN1)
    60. Rajesh V. Thakker

    61. Multiple Endocrine Neoplasia Type 2 (MEN2)
    62. Bruce Robinson, Rory Clifton-Bligh and Matti Gild

      Part V: Vitamin D and Renal Disorders

    63. Heritable Renal Phosphate Wasting Disorders
    64. Marc K. Drezner

    65. Genetic Disorders of Vitamin D Synthesis and Action
    66. David Feldman, Peter Malloy and Walter L. Miller

    67. Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome
    68. Olivier Devuyst and Takashi Igarashi

    69. Inherited Magnesium Disorders
    70. Scott J. Schurman, Dhruval Patel, Anil Singh and Steven J. Scheinman

    71. Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones

    David Bushinsky and Orson W. Moe

    Quotes and reviews

    "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-written account of bone biology, genetic techniques in general, and their application to bone biology and therapeutics, both of common and esoteric conditions. It provides an accessible and comprehensive treatment of one of the most rapidly advancing areas of bone research today."--Prof Ian Reid, BSc, MBChB, MD, FRACP, FRSNZ, FRCP, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand

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