• Article  

      Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities 

      Koufaris, Costas; Papagregoriou, Gregory N.; Kousoulidou, Ludmila; Moutafi, Maria; Tauber, Maïthé Thérèse; Jouret, Béatrice; Kieffer, Isabelle; Constantinou-Deltas, Constantinos D.; Tanteles, George A.; Anastasiadou, Violetta C.; Patsalis, Philippos C.; Sismani, Carolina (2015)
      MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, ...
    • Article  

      Neuralized Encodes a Peripheral Membrane Protein Involved in Delta Signaling and Endocytosis 

      Pavlopoulos, Elias; Pitsouli, Chrysoula; Klueg, K. M.; Muskavitch, M. A. T.; Moschonas, Nicholas K.; Delidakis, Christos (2001)
      Activation of the Notch (N) receptor involves an intracellular proteolytic step triggered by shedding of the extracellular N domain (N-EC) upon ligand interaction. The ligand Dl has been proposed to effect this N-EC shedding ...