Yayıncı "Amer Assoc Advancement Science" için listeleme

Toplam kayıt 4, listelenen: 1-4

    • Deciphering The Glycosylome Of Dystroglycanopathies Using Haploid Screens For Lassa Virus Entry 

      Jae, Lucas T.; Raaben, Matthijs; Riemersma, Moniek; van Beusekom, Ellen; Blomen, Vincent A.; Velds, Arno; Kerkhoven, Ron M.; Carette, Jan E.; Topaloglu, Haluk; Meinecke, Peter; Wessels, Marja W.; Lefeber, Dirk J.; Whelan, Sean P.; van Bokhoven, Hans; Brummelkamp, Thijn R. (Amer Assoc Advancement Science, 2013)
      Glycosylated alpha-dystroglycan (alpha-DG) serves as cellular entry receptor for multiple pathogens, and defects in its glycosylation cause hereditary Walker-Warburg syndrome (WWS). At least eight proteins are critical to ...

    • Evolutionarily Dynamic Alternative Splicing Of Gpr56 Regulates Regional Cerebral Cortical Patterning 

      Bae, Byoung-Il; Tietjen, Ian; Atabay, Kutay D.; Evrony, Gilad D.; Johnson, Matthew B.; Asare, Ebenezer; Wang, Peter P.; Murayama, Ayako Y.; Im, Kiho; Lisgo, Steven N.; Overman, Lynne; Sestan, Nenad; Chang, Bernard S.; Barkovich, A. James; Grant, P. Ellen; Topcu, Meral; Politsky, Jeffrey; Okano, Hideyuki; Piao, Xianhua; Walsh, Christopher A. (Amer Assoc Advancement Science, 2014)
      The human neocortex has numerous specialized functional areas whose formation is poorly understood. Here, we describe a 15-base pair deletion mutation in a regulatory element of GPR56 that selectively disrupts human cortex ...

    • Mutations in A Human Robo Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis 

      Jen, Joanna C.; Chan, Wai-Man; Bosley, Thomas M.; Kansu, Tülay (Amer Assoc Advancement Science, 2004)
      The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form ...

    • Mycobacterial Disease And Impaired Ifn-Gamma Immunity In Humans With Inherited Isg15 Deficiency 

      Bogunovic, Dusan; Byun, Minji; Durfee, Larissa A.; Abhyankar, Avinash; Sanal, Ozden; Mansouri, Davood; Salem, Sandra; Radovanovic, Irena; Grant, Audrey V.; Adimi, Parisa; Mansouri, Nahal; Okada, Satoshi; Bryant, Vanessa L.; Kong, Xiao-Fei; Kreins, Alexandra; Velez, Marcela Moncada; Boisson, Bertrand; Khalilzadeh, Soheila; Ozcelik, Ugur; Darazam, Ilad Alavi; Schoggins, John W.; Rice, Charles M.; Al-Muhsen, Saleh; Behr, Marcel; Vogt, Guillaume; Puel, Anne; Bustamante, Jacinta; Gros, Philippe; Huibregtse, Jon M.; Abel, Laurent; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent (Amer Assoc Advancement Science, 2012)
      ISG15 is an interferon (IFN)-alpha/beta-inducible, ubiquitin-like intracellular protein. Its conjugation to various proteins (ISGylation) contributes to antiviral immunity in mice. Here, we describe human patients with ...