期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 23, 页码 2646-2706出版社
WILEY
DOI: 10.1002/ajmg.a.31368
关键词
endochondral bone; membrane bone; osteoclastogenesis; osteoimmunology; WNT signaling; cartilaginous tumors; bone tumors; osteopetrosis; osteoporosis; collagenopathies; skeletal dysplasias; leptin; FGFRs; TGF beta s-; ACVR1; BMPs; MSXs; RUNX2; IHH; PTH; PTHR1; RANKL; RANK; OPG; LRP5; GNAS1; SOX9
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 NF kappa B (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagencipathies, 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, GAAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations. (c) 2006 Wiley-Liss, Inc.
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