Browsing by Author "Chou, Janet"

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    • Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function 

      Kumar, Lalit; Chou, Janet; Yee, Christina S.K.; Borzutzky, Arturo; Vollmann, Elisabeth H.; von Andrian, Ulrich H.; Park, Shin-Young; Hollander, Georg; Manis, John P.; Poliani, P. Luigi; Geha, Raif S. (The Rockefeller University Press, 2014)
      Lrrc8a is a ubiquitously expressed gene that encodes a leucine-rich repeat (LRR)–containing protein detected at higher levels on the surface of thymocytes than on other immune cells. We generated Lrrc8a−/− mice to investigate ...

    • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency 

      Jabara, Haifa H.; Boyden, Steven E.; Chou, Janet; Ramesh, Narayanaswamy; Massaad, Michel J.; Benson, Halli; Bainter, Wayne; Fraulino, David; Rahimov, Fedik; Sieff, Colin; Liu, Zhi-Jian; Alshemmari, Salem H.; Al-Ramadi, Basel K.; Al-Dhekri, Hasan; Arnaout, Rand; Abu-Shukair, Mohammad; Vatsayan, Anant; Silver, Eli; Ahuja, Sanjay; Davies, E. Graham; Sola-Visner, Martha; Ohsumi, Toshiro K.; Andrews, Nancy C.; Notarangelo, Luigi D.; Fleming, Mark D.; Al-Herz, Waleed; Kunkel, Louis M.; Geha, Raif S. (2015)
      Patients with a combined immunodeficiency characterized by normal numbers, but impaired function, of T and B cells had a homozygous p.Tyr20His mutation in transferrin receptor 1 (TfR1), encoded by TFRC. The mutation disrupts ...