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Article

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

Journal of receptor and signal transduction research - 1 Jun 2012

Cardoso Sarah, Robertson Stephen P, Daniel Philip B

Abstract excerpt

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....

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Source

Identifiers

PMID: 22414221
DOI: 10.3109/10799893.2012.664553

Genes

SMAD2
TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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