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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency
Store-operated Ca(2+) entry (SOCE) represents a predominant Ca(2+) influx pathway in non-excitable cells. SOCE is required for immune cell activation and is mediated by the plasma membrane (PM) channel ORAI1 and the endoplasmic reticulum (ER) Ca(2+) sensor STIM1. Mutations in the Orai1 or STIM1 gene...
Autores principales: | Yu, Fang, Agrebi, Nourhen, Mackeh, Rafah, Abouhazima, Khaled, KhudaBakhsh, Khadija, Adeli, Mehdi, Lo, Bernice, Hassan, Amel, Machaca, Khaled |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8249264/ https://www.ncbi.nlm.nih.gov/pubmed/33650027 http://dx.doi.org/10.1007/s10875-021-01004-8 |
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