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American Journal of Human Genetics|September 25, 2012
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiencyQing Zhou, Geun-Shik Lee, Jillian Brady, et al.
The EMBO Journal|February 27, 2025
Maintenance of p-eIF2α levels by the eIF2B complex is vital for colorectal cancerIvana Paskov Škapik, Chiara Giacomelli, Sarah Hahn, et al.
Journal of the American Society of Nephrology : JASN|August 31, 2013
LMX1B is essential for the maintenance of differentiated podocytes in adult kidneysTillmann Burghardt, Jürgen Kastner, Hani Suleiman, et al.
Immunity|December 11, 2012
NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cellsSeth L Masters, Motti Gerlic, Donald Metcalf, et al.
Human Mutation|July 24, 2010
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiencyHong-Ying Wang, Vivek Gopalan, Ivona Aksentijevich, et al.
Plos One|April 15, 2011
Single HA2 mutation increases the infectivity and immunogenicity of a live attenuated H5N1 intranasal influenza vaccine candidate lacking NS1Brigitte M Krenn, Andrej Egorov, Ekaterina Romanovskaya-Romanko, et al.
Cell Reports. Medicine|August 16, 2023
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXASZhijie Wu, Shouguo Gao, Qingyan Gao, et al.
Biorxiv : the Preprint Server for Biology|December 16, 2024
Convergence of autism proteins at the ciliumElina Kostyanovskaya, Micaela C Lasser, Belinda Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2011
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockadeSilvia Stojanov, Sivia Lapidus, Puja Chitkara, et al.
American Journal of Human Genetics|September 22, 2005
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritisVictoria E H Carlton, Xiaolan Hu, Anand P Chokkalingam, et al.
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