Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
Sign Up to like & getrecommendations! Published in 2022 at "Biochemical Journal"
DOI: 10.1042/bcj20220209
Abstract: Single-minded 2 (SIM2) is a neuron-enriched basic Helix–Loop–Helix/PER–ARNT–SIM (bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the Down syndrome critical region (DSCR) of chromosome 21, and manipulation in mouse models suggests Sim2… read more here.
Keywords: sim2 variants; functionally deficient; found patients; characterization functionally ... See more keywords
Role of Rare Genetic Variants Found in Families With Intracranial Aneurysms in the General Dutch and UK Population
Sign Up to like & getrecommendations! Published in 2021 at "Stroke"
DOI: 10.1161/strokeaha.121.035492
Abstract: Supplemental Digital Content is available in the text. read more here.
Keywords: rare genetic; found families; families intracranial; genetic variants ... See more keywords