TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome.

PLoS Genet · 2018 · PMC6188895 · PMID 30281655

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In the euploid population there is a significant reduction in TIMP1 and TIMP3 expression in BAV-associated TAA and a highly significant increase in MMP2 and MMP9, which are both regulated by TIMP1 and TIMP3.[ 16 ] This results in a considerable MMP/TIMP imbalance in aneurysms compared to control aortas.

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