Transcriptome and Genome Analysis Uncovers a DMD Structural Variant
Sign Up to like & getrecommendations! Published in 2023 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200064
Abstract: Objective Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the dystrophin gene (DMD). Hypermethylated CGG expansions within DIP2B 5′ UTR are associated with an intellectual development disorder. Here, we demonstrate the diagnostic utility… read more here.
Keywords: dip2b; expansion; analysis; dmd ... See more keywords
DIP2B Interacts With α-Tubulin to Regulate Axon Outgrowth
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2020.00029
Abstract: Axonal development is essential to the establishment of neuronal morphology and circuitry, although the mechanisms underlying axonal outgrowth during the early developmental stages remain unclear. Here, we showed that the conserved disco-interacting protein B (DIP2B)… read more here.
Keywords: interacts tubulin; outgrowth; dip2b; dip2b interacts ... See more keywords