Genetics of bone biology and skeletal disease

著者

• Thakker, Rajesh V.

書誌事項

Genetics of bone biology and skeletal disease

edited by Rajesh V. Thakker ... [et al.]

Academic Press is an imprint of Elsevier, c2013

• : hbk

内容説明・目次

内容説明

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.

目次

Part I: General Background to Bone Biology 1. Biology of Bone and Cartilage Brendan Boyce, Michael Zuscik, Lianping Xing 2. Overview of Bone Structure and Strength Mary L. Bouxsein 3. Overview of Joint and Cartilage Biology Frank Luyten and Rik JU Lories 4. Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein T. John Martin and Natalie A. Sims 5. Energy Homeostasis and Neuronal Regulation of Bone Remodeling Gerard Karsenty, Mathieu Ferron and Franck Oury 6. Neuropeptide Y and Bone Regulation Paul A. Baldock Part II: General Background to Genetics 7. Genome-wide Association Studies Matthew Brown and Emma L. Duncan 8. Genomic Profiling in Bone Gabriela G. Loots and Bryan D. Hudson 9. Copy Number Variation Hong-Wen Deng, Tie-Lin Yang, Yan Guo and Christopher J. Papasian 10. Prospects of Gene Therapy Brendan Lee, Merry ZC Ruan and Kilian Guse 11. Pharmacogentics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook Tuan V. Nguyen and John A. Eisman 12. Genetic Testing & Counselling Ingrid A. Holm, Christina M. Jacobsen, Yiping Shen and Stephanie J. Brewster 13. Mouse models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis Sian E. Piret and Rajesh V. Thakker 14. Fetal Control of Calcium and Phosphate Homeostasis - Lessons from Mouse Models Christopher S. Kovacs 15. Control of Skeletal Homeostasis during Pregnancy and Lactation - Lessons from Physiological Models Christopher S. Kovacs Part III: Disorders of Bone and Joint 16. Osteogenesis Imperfecta Joan Marini and M. Helen Rajpar 17. Osteoporosis Genes Identified by Genome-wide Association Studies Andre Uitterlinden and Fernando Rivadenerira 18. Osteoarthritis - Genetic Studies of Monogenic and Complex Forms Ana M. Valdes 19. Paget's Disease Stuart H. Ralston and Omar M.E. Albagha 20. Heritable Disorders of RANKL, OPG, RANK and NF-KB Signalling Michael Whyte 21. Skeletal Dysplasias William G. Cole 22. Hypophosphatasia Michael P. Whyte 23. Sclerosing Bone Disorders Bram Perdu and Wim Van Hul 24. 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 25. Hyperparathyroidism Andrew Arnold and Jessica Costa-Guda 26. Hypoparathyroidism Rajesh V. Thakker 27. Gsa, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome Lee S. Weinstein, Allen M. Spiegel and Michael Collins 28. Genetic disorders affecting PTH/PTHrP receptor function Harald Jueppner and Caroline Silve 29. Genetically Determined Disorders of the Calcium-Sensing Receptor Edward M. Brown and Ogo I. Egbuna 30. Multiple Endocrine Neoplasia Type 1 (MEN1) Rajesh V. Thakker 31. Multiple Endocrine Neoplasia Type 2 (MEN2) Bruce Robinson, Rory Clifton-Bligh and Matti Gild Part V: Vitamin D and Renal Disorders 32. Heritable Renal Phosphate Wasting Disorders Marc K. Drezner 33. Genetic Disorders of Vitamin D Synthesis and Action David Feldman, Peter Malloy and Walter L. Miller 34. Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome Olivier Devuyst and Takashi Igarashi 35. Inherited Magnesium Disorders Scott J. Schurman, Dhruval Patel, Anil Singh and Steven J. Scheinman 36. Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones David Bushinsky and Orson W. Moe

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詳細情報

• NII書誌ID(NCID): BB12075143
• ISBN:
  • 9780123878298
• 出版国コード: ne
• タイトル言語コード: eng
• 本文言語コード: eng
• 出版地: Amsterdam
• ページ数/冊数: xi, 621, [15] p.
• 大きさ: 29 cm
• 分類:
  • DC23 : 616.71042
• 件名:
  • LCSH : Bones -- Diseases -- Genetic aspects