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J Recept Signal Transduct Res. 2012 Jun;32(3):150-5. doi: 10.3109/10799893.2012.664553. Epub 2012 Mar 14.

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

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  • 1Department of Women's and Children's Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.


To assess the effect of Loeys-Dietz syndrome (LDS) mutations affecting TGFΒR1 a selection of seven disease-associated amino acid substitutions were introduced into wild type TGFβR1 and constitutively active TGFβR1(T204D). Receptor function was tested by co-transfection with a luciferase reporter or EGFP-tagged SMAD2 in HEK293 cells. All of the mutations were found to be inactivating for canonical TGF-β signaling. Differences in residual activity were not found to correlate with disease subtype. In co-transfection experiments with equal amounts wild-type receptor, the LDS mutations were found to confer a modest dominant negative effect. These results are discussed in relation to LDS and the related Marfan syndrome.

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