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。