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

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 genotyp...

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Veröffentlicht in:	Journal of molecular medicine (Berlin, Germany) Germany), 2013, Vol.91 (1), p.37-47
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aneurysm, Dissecting - ethnology Aneurysm, Dissecting - genetics Aneurysm, Dissecting - pathology Aorta, Thoracic - metabolism Aorta, Thoracic - pathology Aortic Aneurysm, Thoracic - ethnology Aortic Aneurysm, Thoracic - genetics Aortic Aneurysm, Thoracic - pathology Aortic aneurysms Asian Continental Ancestry Group Biomedical and Life Sciences Biomedicine Bone diseases Calcium Child Cysteine Defects Dissection Epidermal growth factor Exons Female Fibrillin Fibrillin-1 Fibrillins Gene Expression Genetic Association Studies Genotypes Growth factors HEK293 Cells Human Genetics Humans Internal Medicine Male Marfan syndrome Microfilament Proteins - genetics Middle Aged Missense mutation Molecular Medicine Mutation Nonsense mutation Original Article Pedigree Protein Structure, Tertiary Protein-Serine-Threonine Kinases - genetics Receptors, Transforming Growth Factor beta - genetics Signal transduction Splicing Thorax Transfection
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