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Noncoding expansions of a hexanucleotide repeat (GGGGCC) in the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Here we report transgenic mice carrying a bacterial artificial chromosome (BAC) containing the full human C9orf72 gene with ei...
ORGANISM(S): Mus musculus 
CD47 is a marker of self and a signaling receptor for thrombospondin-1 that is also a membrane component of extracellular vesicles (EVs) released by various cell types. Previous studies identified CD47-dependent functional effects of EVs on target cells, mediated by delivery of their RNA contents, a...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-03-01 | MSV000086969 | MassIVE
To assess the clinical impact of splice-altering noncoding mutations in autism spectrum disorder (ASD), we used a deep learning framework (SpliceAI) to predict the splice-altering potential of de novo mutations in 3,953 individuals with ASD from the Simons Simplex Collection. To validate these predi...
ORGANISM(S): Homo sapiens 
Rheb is a small G protein that functions as the direct activator of the mechanistic target of rapamycin complex 1 (mTORC1) to coordinate signaling cascades in response to nutrients and growth factors. Despite extensive studies, the guanine nucleotide exchange factor (GEF) that directly activates Rhe...
ORGANISM(S): Homo Sapiens 
2022-09-29 | PXD037078 |
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