Genetics of Bone Biology and Skeletal Disease

Other | December 31, 2012

byRajesh V. Thakker, Rajesh V. Thakker, Michael P. Whyte...

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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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    From the Publisher

    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 genetic...

    Format:OtherDimensions:634 pages, 1 × 1 × 1 inPublished:December 31, 2012Publisher:Academic PressLanguage:English

    The following ISBNs are associated with this title:

    ISBN - 10:0123878306

    ISBN - 13:9780123878304

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    Extra Content

    Table of Contents

    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 Generatingin vivoModels 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