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

被引:211
作者
Cohen, M. Michael, Jr. [1 ]
机构
[1] Dalhousie Univ, Dept Pediat, Halifax, NS B3H 3J5, Canada
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;
D O I
10.1002/ajmg.a.31368
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:2646 / 2706
页数:61
相关论文
共 446 条
[1]   Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling [J].
Ai, M ;
Holmen, SL ;
Van Hul, W ;
Williams, BO ;
Warman, ML .
MOLECULAR AND CELLULAR BIOLOGY, 2005, 25 (12) :4946-4955
[2]   Clinical and molecular findings in osteoporosis-pseudoglioma syndrome [J].
Ai, MR ;
Heeger, S ;
Bartels, CF ;
Schelling, DK .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (05) :741-753
[3]  
Albers-Schonberg H., 1904, Munch Med Wochenschr, V51, P365
[4]   Medicine - Interfering with bone remodelling [J].
Alliston, T ;
Derynck, R .
NATURE, 2002, 416 (6882) :686-687
[5]   Activating mutations of Gs protein in monostotic fibrous lesions of bone [J].
Alman, BA ;
Greel, DA ;
Wolfe, HJ .
JOURNAL OF ORTHOPAEDIC RESEARCH, 1996, 14 (02) :311-315
[6]  
*AN CONS C MEN OST, 1998, J SOC OBSTET GYNAECO, V20, P1243
[7]  
ANGIER N, 1994, NY TIMES 1101
[8]   Making sense of latent TGFβ activation [J].
Annes, JP ;
Munger, JS ;
Rifkin, DB .
JOURNAL OF CELL SCIENCE, 2003, 116 (02) :217-224
[9]  
[Anonymous], [No title captured]
[10]   Osteoimmunology - Bone versus immune system [J].
Arron, JR ;
Choi, Y .
NATURE, 2000, 408 (6812) :535-536