title: [Molecular biological aspects of Marfan syndromes].
abstract: Marfan syndrome (MFS) is a hereditary connective tissue disorder. Studies of MFS have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-β signalling. It is now known that the disease is caused by altered regulation of TGF-β. As a result, the definition of MFS- and MFS-related diseases as the prototypical structural disorder of the connective tissue has changed to that of a developmental abnormality with broad and complex effects on the morphogenesis and tissue remodelling.
authors.affiliation: Kildegårdsvej 16 B, 2. tv., Hellerup, Denmark. t.z.belsing@dadlnet.dk
authors.forename: Tina Zimmermann
authors.initials: TZ
authors.lastname: Belsing
authors.forename: Allan Meldgaard
authors.initials: AM
authors.lastname: Lund
authors.forename: Steen Zabell
authors.initials: SZ
authors.lastname: Abildstrøm
authors.forename: Lars
authors.initials: L
authors.lastname: Søndergaard
authors.forename: Lennart
authors.initials: L
authors.lastname: Friis-Hansen
mesh_terms: D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000209:etiology / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D009154:Mutation; D015398:Signal Transduction / Q000502:physiology; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D016212:Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines