Yayıncı "Amer Assoc Advancement Science" Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu için listeleme

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    • 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 ...

    • 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 ...