| Abstrakt: |
This article focuses on a study where it has been found that mutations in TGF-&b.beta; receptor type-2 cause Marfan's syndrome. Marfan's syndrome (MFS) is an autosomal dominant disorder that affects the connective tissue of the vascular, skeletal and ocular systems. TGF-&b.beta; is a cytokine that regulates many cellular functions, including growth, differentiation, apoptosis, cell migration, adhesion and extracellular matrix formation. In order to understand the role of the various TGF-&b.beta; signalling pathways in MFS further, researchers examine the effect of the mutant TGF-&b.beta; receptors on TGF-&b.beta; activity in an in vitro assay for luciferase activity. |
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