Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B lymphocyte antigen receptor signaling and is required for the maintenance of immunological tolerance in mice1, 2. Heterozygous loss-of-function germline rare variants and a homozygous defective polymorphic variant of SIAE wer...

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Detalhes bibliográficos
Main Authors: Surolia, Ira, Pirnie, Stephan P., Chellappa, Vasant, Taylor, Kendra N., Cariappa, Annaiah, Moya, Jesse, Liu, Haoyuan, Bell, Daphne W., Driscoll, David, Diederichs, Sven, Haider, Khaleda, Netravali, Ilka, Le, Sheila, Elia, Roberto, Dow, Ethan, Lee, Annette, Freudenberg, Jan, De Jager, Philip L., Chretien, Yves, Varki, Ajit, MacDonald, Marcy E., Gillis, Tammy, Behrens, Timothy W., Bloch, Donald, Collier, Deborah, Korzenik, Joshua, Podolsky, Daniel K., Hafler, David, Murali, Mandakolathur, Sands, Bruce, Stone, John H., Gregersen, Peter K., Pillai, Shiv
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2900412/
https://ncbi.nlm.nih.gov/pubmed/20555325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature09115
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