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Article

Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

Journal of molecular medicine (Berlin, Germany) - 1 Jan 2013

Wang Wen-Jing, Han Peili, Zheng Jun, Hu Fang-Yuan, Zhu Yun, Xie Jin-Sheng, Guo Jian, Zhang Zhe, Dong Jie, Zheng Gu-Yan, Cao Huiqing, Liu Tian-Shu, Fu Qinglin, Sun Lizhong, Yang Bi-Bo, Tian Xiao-Li

Abstract excerpt

Excessive activation of the transforming growth factor beta signaling pathway and disorganized cellular skeleton caused by genetic mutations are known to be responsible for the inherited thoracic aortic aneurysms and dissections (TAAD), a life-threatening vascular disease. To investigate the geno...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22772377
DOI: 10.1007/s00109-012-0931-y

Genes

FBN1
TGFBR2
TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22772377-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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