Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2206888
Abstract: BACKGROUND Traboulsi syndrome is a rare disease clinically characterized by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis (EL) and multiple anterior segment abnormalities. MATERIAL AND METHODS An 18-year-old female was referred to the Emergency… read more here.
Keywords: syndrome without; variant; syndrome; asph ... See more keywords
CircTM7SF3 contributes to oxidized low-density lipoprotein-induced apoptosis, inflammation and oxidative stress through targeting miR-206/ASPH axis in atherosclerosis cell model in vitro
Sign Up to like & getrecommendations! Published in 2021 at "BMC Cardiovascular Disorders"
DOI: 10.1186/s12872-020-01800-x
Abstract: Atherosclerosis (AS) is a chronic inflammatory disorder. The aim of our study was to explore the role of circular RNA (circRNA) transmembrane 7 superfamily member 3 (circTM7SF3) in AS progression. Experiments were conducted using oxidized… read more here.
Keywords: circtm7sf3; mir 206; derived macrophages; asph ... See more keywords