Article
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Human molecular genetics - 1 Jun 2017
Donnio Lise-Marie, Bidon Baptiste, Hashimoto Satoru, May Melanie, Epanchintsev Alexey, Ryan Colm, Allen William, Hackett Anna, Gecz Jozef, Skinner Cindy, Stevenson Roger E, de Brouwer Arjan P M, Coutton Charles, Francannet Christine, Jouk Pierre-Simon, Schwartz Charles E, Egly Jean-Marc
Abstract excerpt
Mediator occupies a key role in protein coding genes expression in mediating the contacts between gene specific factors and the basal transcription machinery but little is known regarding the role of each Mediator subunits. Mutations in MED12 are linked with a broad spectrum of genetic disorders with X-linked intellectual disability that are difficult to range as Lujan, Opitz-Kaveggia or Ohdo syndromes. Here, we...
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