Aneurysm syndromes caused by mutations in the TGF-beta 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. New England Journal of Medicine, 2006

786 citations recorded by the source corpus.

Subfields: Genetics, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/d1046de5ce4b5002824ecb2f7a9a88b628008864

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Tom Lenaerts
2. J. Massagué

In Pulmonary and Respiratory Medicine

1. J. Massagué
2. E. Hay

Citations in the corpus

• Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease (2010, background): “The vascular disease in these patients is particularly aggressive with a mean age of death of 26 years (78).”
• Clinical diagnostics in human genetics with semantic similarity searches in ontologies. (2009, neutral): “In this case, adding this feature to the list of features leads to a significant p value for LoeysDietz syndrome 1A.(22) The clinical features returned by the Phenomizer can prompt more exact clinical examination (e.”
• DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins (2017, background): “Variants of this protein have been linked to Loeys-Dietz Syndrome and susceptibility to multiple selfhealing squamous epithelioma (36,37), and we will discuss the information that the web server provides around this example of a disease-causing variant.”
• The revised Ghent nosology for the Marfan syndrome (2010, background): “In order to avoid persistent ambiguity even under the proposed criteria, molecular testing should be strongly considered because it influences the clinical management.(34) It has been proposed that patients with TGFBR1/2 mutations who lack outward discriminating features of LDS should be designated ”
• 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).”