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ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID)

BACKGROUND: Store-operated Ca(2+) entry (SOCE) through Ca(2+) release-activated Ca(2+) (CRAC) channels is an essential signaling pathway in many cell types. CRAC channels are formed by ORAI1, ORAI2 and ORAI3 proteins and activated by stromal interaction molecule 1 (STIM1) and STIM2. Mutations in ORA...

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Detalhes bibliográficos
Publicado no:J Allergy Clin Immunol
Main Authors: Lian, Jayson, Cuk, Mario, Kahlfuss, Sascha, Kozhaya, Lina, Vaeth, Martin, Rieux-Laucat, Frédéric, Picard, Capucine, Benson, Melina J., Jakovcevic, Antonia, Bilic, Karmen, Martinac, Iva, Stathopulos, Peter, Kacskovics, Imre, Vraetz, Thomas, Speckmann, Carsten, Ehl, Stephan, Issekutz, Thomas, Unutmaz, Derya, Feske, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5955830/
https://ncbi.nlm.nih.gov/pubmed/29155098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2017.10.031
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