title: [Development and congenital malformations of the skeleton].
abstract: The article presents current knowledge on skeleton development, which is initiated by mesenchymal cells condensation. The mesenchymal to epithelial transformation, vascular regression, cartilage formation and ossification are involved in normal skeletogenesis. All the processes are influenced by various genes and regulatory molecules, e.g., N-cadherin, vascular endothelial growth factor, transforming growth factor-beta, syndecan-3 and others. The chondrogenesis depends on the Sox genes expression - Sox5, Sox6 and especially Sox9, which continued action produce persistent cartilage. The essential role in osteogenesis is played by the transcription factor Runx2 that directly activates expression of genes coding typical bone proteins like collagen type I, osteocalcin, osteopontin and osteonectin. Development of fibrous, cartilaginous and synovial joints, bone maturation and remodeling, and mechanisms leading to skeleton dysmorphogenesis are also discussed.
authors.affiliation: Pracownia Teratologii Doświadczalnej Katedry i Zakładu Anatomii Prawidłowej Człowieka Akademii Medycznej im. prof. Feliksa Skubiszewskiego w Lublinie. fb3@wp.pl
authors.forename: Franciszek
authors.initials: F
authors.lastname: Burdan
mesh_terms: D015703:Antigens, CD; D001842:Bone and Bones / Q000002:abnormalities* / Q000033:anatomy & histology / Q000378:metabolism; D015820:Cadherins; D015815:Cell Adhesion Molecules / Q000378:metabolism; D020219:Chondrogenesis / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008562:Membrane Glycoproteins / Q000378:metabolism; D010012:Osteogenesis / Q000235:genetics*; D011509:Proteoglycans / Q000378:metabolism; D053670:Syndecan-3; D014157:Transcription Factors / Q000378:metabolism; D016212:Transforming Growth Factor beta / Q000378:metabolism; D042461:Vascular Endothelial Growth Factor A / Q000378:metabolism
chemical_list: D015703:Antigens, CD; C050361:CDH2 protein, human; D015820:Cadherins; D015815:Cell Adhesion Molecules; D008562:Membrane Glycoproteins; D011509:Proteoglycans; C508301:SDC3 protein, human; D053670:Syndecan-3; D014157:Transcription Factors; D016212:Transforming Growth Factor beta; D042461:Vascular Endothelial Growth Factor A