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Rodolfo T Malit Form

Rodolfo T Malit Form

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thank you for the invitation to talk at this gentech aortic summit i'll be updating you on the uh genes for heritable thoracic aortic disease and giving you an update um on the data from the montagino aortic consortium here's the list of current heritable thoracic aortic disease genes these are genes that when they are altered or mutated confirm a very high risk for dissections the ones bolded in black or those that are confirmed to cause disease and can be used clinically the rest of them are awaiting additional data um despite having this long list of of genes in our cohort we still can only explain the disease in about 35 to 40 of the cohorts so we still have more genes to to be identified so what are these genes telling us about signaling um well we have genes that disrupt the extracellular matrix the t uh tgf beta signaling uh the ability of the smooth muscle cell to contract and then down here we have some new genes that are disrupting potassium channels in smooth

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