Bi-allelic Emilin 1 LOF causes #Aortopathy

EMILIN1 deficiency👤🐭->
⏬Fibulin 4
⏬LOX
⏫#TGFβ signals
⏬#Elastogenesis
⏬#CollagenFibrillogenesis

Pediatric #AscendingAorticAneurysm

Dr. Gerhard Sengle & Bert Callewaert labs Am J Hum Genet 2022
https://www.cell.com/ajhg/fulltext/S0002-9297(22)00458-X

In light of the tragic death of #GrantWahl due to a ruptured #AscendingAorticAneurysm Id like to talk about one of the leading causes in otherwise healthy young ppl: #MarfanSyndrome Characterized by being tall with overly long arms, fingers, a convex or (mostly) concave chest among other traits, this silent killer is relatively easy to detect/treat IF you have regular checkups. Please get informed: https://www.hopkinsmedicine.org/health/conditions-and-diseases/marfan-syndrome