The new bone biology: Pathologic, molecular, and clinical correlates
Top Cited Papers
- 13 November 2006
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 140A (23) , 2646-2706
- https://doi.org/10.1002/ajmg.a.31368
Abstract
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 NFκB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and β‐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 β, 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.Keywords
This publication has 373 references indexed in Scilit:
- Evolving concepts of rheumatoid arthritisNature, 2003
- Osteoclast differentiation and activationNature, 2003
- The core-binding factor β subunit is required for bone formation and hematopoietic maturationNature Genetics, 2002
- Core-binding factor β interacts with Runx2 and is required for skeletal developmentNature Genetics, 2002
- TGFβ/Smad signaling system and its pathologic correlatesAmerican Journal of Medical Genetics Part A, 2002
- Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosisAmerican Journal of Medical Genetics, 2002
- Shh establishes an Nkx3.2/Sox9 autoregulatory loop that is maintained by BMP signals to induce somitic chondrogenesisGenes & Development, 2002
- A mutant PTH/PTHrP type I receptor in enchondromatosisNature Genetics, 2002
- Activating mutations of Gs protein in monostotic fibrous lesions of boneJournal of Orthopaedic Research, 1996
- Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GsThe Journal of Pediatrics, 1993