title: Regulation and organization of connective tissues.
abstract: It is difficult to study the regulation and interactions of the connective tissue macromolecules in vivo. However, studies of genetically determined diseases of the connective tissues have yielded a large amount of new information in these areas. Specific molecular defects can then be correlated with the functional and pathological changes in the tissues. We have concentrated on this approach which takes advantage of the large number of families with genetic diseases who come to our Hospital from all parts of Australasia and also takes advantage of developments in molecular biology in our Unit which were initiated with a RACS John Mitchell Crouch Fellowship. In addition to these studies on naturally occurring mutations we are also studying specific mutations that we are able to produce in specific regions of the collagen molecule. Another approach takes advantage of a unique model culture system developed in our Unit. These studies will be supplemented by various collaborative projects such as current ones involving smooth muscle cells in atherosclerosis, bone cells metabolism and myelofibrosis in leukaemia.
authors.affiliation: Department of Paediatrics, University of Melbourne, Parkville, Victoria.
authors.forename: W G
authors.initials: WG
authors.lastname: Cole
authors.forename: J F
authors.initials: JF
authors.lastname: Bateman
mesh_terms: D000328:Adult; D001315:Australia; D002478:Cells, Cultured; D002648:Child; D003094:Collagen / Q000096:biosynthesis / Q000235:genetics; D003238:Connective Tissue / Q000503:physiopathology*; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000473:pathology; D004535:Ehlers-Danlos Syndrome / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D008382:Marfan Syndrome / Q000235:genetics; D008945:Mitral Valve Prolapse / Q000235:genetics / Q000503:physiopathology; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics; D011859:Radiography
chemical_list: D003094:Collagen