Article
Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.
Molecular genetics and metabolism - 1 Sept 2016
Davis Margaret R, Arner Erik, Duffy Cairnan R E, De Sousa Paul A, Dahlman Ingrid, Arner Peter, Summers Kim M
Abstract excerpt
Fibrillin-1 is a large glycoprotein encoded by the FBN1 gene in humans. It provides strength and elasticity to connective tissues and is involved in regulating the bioavailability of the growth factor TGFβ. Mutations in FBN1 may be associated with depleted or abnormal adipose tissue, seen in some patients with Marfan syndrome and lipodystrophies. As this lack of adipose tissue does not result in high morbidity or...
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