The new bone biology: pathologic, molecular, and clinical correlates

Am J Med Genet A. 2006 Dec 1;140(23):2646-706. doi: 10.1002/ajmg.a.31368.


Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations.

Publication types

  • Review

MeSH terms

  • Animals
  • Bone Development*
  • Bone Diseases / genetics*
  • Bone Diseases / metabolism
  • Bone Diseases / pathology*
  • Bone Morphogenetic Proteins / metabolism
  • Bone Remodeling*
  • Cartilage / metabolism
  • Humans
  • Models, Biological
  • Mutation*
  • Osteoblasts / metabolism
  • Osteoclasts / metabolism
  • Signal Transduction


  • Bone Morphogenetic Proteins