Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
By B. Loeys, U. Schwarze, Tammy M. Holm, B. Callewaert, G. Thomas, H. Pannu, J. De Backer, Gretchen L. Oswald, S. Symoens, S. Manouvrier and 11 more. 2006
1,338 citations recorded by the source corpus.
Subfields: Genetics, Pulmonary and Respiratory Medicine, Surgery
View Paper: https://www.semanticscholar.org/paper/05aa6c0a378361cfe5a8366781a95f7659b3e0d4
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In Genetics
In Pulmonary and Respiratory Medicine
Citations in the corpus
- Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (2007, background): “TAAD results from diverse etiologies, including infectious agents, hemodynamic forces and genetic syndromes, but studies have established that at least 20% of affected individuals have a genetic predisposition for TAAD inherited primarily in an autosomal dominant manner with decreased penetrance and”
- TGFβ in Cancer (2008, result): “Inhibition of TGFβ receptor function might also lead to runaway compensatory mechanisms by other activators of the Smad pathway, similar to what occurs in individuals with inactivating mutations in TGFBRI or TGFBRII (Loeys et al., 2006).”