aorticroot
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| aorticroot [2026/07/09 08:28] – [heritable thoracic aortic disease (HTAD)] gary1 | aorticroot [2026/07/09 08:28] (current) – [heritable thoracic aortic disease (HTAD)] gary1 | ||
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| *genes with more limited or emerging evidence include FLNA, NOTCH1, MAT2A, SMAD2, BGN, ELN, FBN2, SLC2A10, EFEMP2, LTBP3, and THSD4 | *genes with more limited or emerging evidence include FLNA, NOTCH1, MAT2A, SMAD2, BGN, ELN, FBN2, SLC2A10, EFEMP2, LTBP3, and THSD4 | ||
| ***genes affecting the aortic wall fall into three broad biological groups: | ***genes affecting the aortic wall fall into three broad biological groups: | ||
| - | * extracellular matrix structure | + | |
| * Marfan syndrome (FBN1 gene) | * Marfan syndrome (FBN1 gene) | ||
| * vascular Ehlers-Danlos syndrome (COL3A1 gene) | * vascular Ehlers-Danlos syndrome (COL3A1 gene) | ||
| Line 35: | Line 35: | ||
| * MFAP5 | * MFAP5 | ||
| * MAT2A | * MAT2A | ||
| - | * TGF-β signaling | + | |
| * TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, and SKI; TGFBR1, TGFBR2, TGFB2, TGFB3, and SMAD3 are well-established in this pathway, while SKI affects downstream TGF-β transcriptional regulation | * TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, and SKI; TGFBR1, TGFBR2, TGFB2, TGFB3, and SMAD3 are well-established in this pathway, while SKI affects downstream TGF-β transcriptional regulation | ||
| * Loeys-Dietz syndrome (TGFB3) | * Loeys-Dietz syndrome (TGFB3) | ||
| * non-syndromic HTAD | * non-syndromic HTAD | ||
| - | * vascular smooth muscle cell contraction | + | |
| * ACTA2, MYH11, MYLK, and PRKG1 | * ACTA2, MYH11, MYLK, and PRKG1 | ||
| * non-syndromic HTAD | * non-syndromic HTAD | ||
aorticroot.txt · Last modified: 2026/07/09 08:28 by gary1