Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"Loeys-Dietz"”.
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Lineage-Specific Phenotypic Abnormalities in iPSC-Derived Smooth Muscle Cells from Type-I Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by mutations in genes encoding components of the transforming growth factor (TGF)-β pathway. This condition increases the risk of developing a potentially fatal thoracic aortic aneurysm (TAA) and dissection, yet the mechanisms …
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Large Artery Stiffness: Genes and Pathways
… sought to investigate the molecular basis of Loeys-Dietz type 4 syn- drome in a pedigree with multiple cases of aortic aneurysms and dissections. A missense variant p.(Arg320Cys) was identified in a highly evolutionary conserved region of TGFB2. There was strik- ing upregulation of TGFB1, …