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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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Article
On-line přístup: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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