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Abstract Medizinische Genetik 2011 is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Abstract Medizinische Genetik 2011 about?
Aortic aneurysms are an important cause of mortality in the western world. Monogenic disorders such as the Marfan syndrome (MFS) and the vascular type of Ehlers-Danlos syndrome (EDS) are good models for the study of the pathogenesis of aortic aneurysm. In the MFS, progressive dilatation of the aortic root leads to aortic aneurysm and dissection, often associated with precocious death. Early pathogenetic models for MFS focused upon structural weakness of the tissues imposed by microfibrillar deficiency. However, recent studies of transgenic mouse models have challenged this model and demonstrated a central role for the upregulation of the TGFbeta signaling pathway. The discovery of a new aortic aneurysm syndrome, the Loeys-Dietz syndrome (LDS), confirmed the importance of the cytokine transforming growth factor (TGFbeta) in aneurysm pathogenesis. The main distinguishing features between LDS and MFS include the presence of hypertelorism, cleft palate/bifid uvula and arterial tortuosity/widespread aneurysms. LDS is caused by mutations in the genes encoding the receptors for TGFbeta (TGFBR1/2). Timely recognition of LDS is important in view of the different management strategies needed
Who reads Abstract Medizinische Genetik 2011?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Publisher
- Walter de Gruyter GmbH
- Published
- 2011
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)