Cohen M Michael
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
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.
骨骼的功能；正常与异常的骨重塑；骨质石化症与骨质疏松症；上皮-间充质相互作用、凝聚与分化；成骨细胞、骨形成标志物、破骨细胞、骨骼组成部分及骨骼病理学；成软骨细胞、软骨形成标志物、继发性软骨、软骨组成部分及软骨病理学；膜内成骨与软骨内成骨；RUNX基因与锁骨颅骨发育不全（CCD）；osterix；组蛋白脱乙酰酶4与Runx2；核因子κB受体激活剂配体（RANKL）、RANK、骨保护素与骨免疫学；WNT信号通路、LRP5突变与β-连环蛋白；瘦素在骨重塑中的作用；胶原蛋白、胶原病与成骨不全症；成纤维细胞生长因子/成纤维细胞生长因子受体（FGFs/FGFRs）、FGFR3骨骼发育异常、颅缝早闭及其他疾病；短肢软骨发育异常；软骨内成骨中生长板的分子调控以及IHH和PTHR1的遗传性疾病；ANKH、颅骨骨干发育异常与软骨钙质沉着症；转化生长因子β、卡-恩二氏病（CED）以及I型和II型马凡综合征；ACVR1突变与进行性骨化性肌炎；MSX1和MSX2：生物学、突变及相关疾病；G蛋白、腺苷酸环化酶激活、GNAS1突变、McCune-Albright综合征、骨纤维发育不良及奥尔布赖特遗传性骨营养不良；FLNA及相关疾病；以及牙齿的形态发育及其基因突变。
