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Article

Novel TGFBR2 and known missense SMAD3 mutations: two case reports of thoracic aortic aneurysms.

The Annals of thoracic surgery - 1 Jan 2015

Panesi Paola, Foffa Ilenia, Sabina Saverio, Ait Ali Lamia, Andreassi Maria Grazia

Abstract excerpt

We report the clinical presentation and genetic screening of 2 patients with thoracic aortic aneurysms. A novel TGFBR2 mutation in the 5'untranslated region (c.-59C>T) was identified in a 31-year-old man with a Stanford type A aortic dissection. Bioinformatics tools showed that c.-59C>T variant was predicted to affect exonic splicing enhancer, as validated by quantitative real-time RT-PCR, revealing a sixfold...

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Share to Aortic Aneurysm, Thoracic
Share to SMAD3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Mutation, Missense

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Receptors, Transforming Growth Factor beta

Share to Smad3 Protein

Source

Identifiers

PMID: 25555948
DOI: 10.1016/j.athoracsur.2014.02.068

Genes

SMAD3
TGFBR2

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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