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Title[redir]:
STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity - PMC
Description:
A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca2+-release–activated Ca2+ (CRAC) channel, abrogates the store-operated entry of Ca2+ into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) in the ...
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Keywords {🔍}
stim, doi, patient, cells, pubmed, google, scholar, entry, orai, storeoperated, patients, pmc, mutation, fibroblasts, article, immunodeficiency, crac, cell, free, protein, channel, expression, function, dna, calcium, influx, normal, levels, channels, activation, defect, deficiency, supplementary, thrombocytopenia, muscular, hypotonia, found, age, panel, control, data, nature, clinical, essential, fig, obtained, domain, nlm, feske, siblings,
Topics {✒️}
t-cell–receptor β-chain–variable regions ca2+-store-depletion-triggered ca2+ influx store-operated ca2+-entry channels defective store-operated entry store-operated calcium entry store-operated ca2+ entry detect full-length stim1 yellow–red high ca2+ hematopoietic stem-cell transplantation necker–enfants malades hospital genome-wide rnai screen store-operated calcium channel full-length stim1 protein serine–proline-rich domain ca2+-release–activated ca2+ realtime reverse-transcriptase pcr primary t-cell immunodeficiency pmc beta search myc-epitope–tagged stim1 partial iris hypo-plasia ebv epstein–barr virus quantitative real-time pcr reintroducing wild-type stim1 store-operated entry pmc copyright notice supplementary materials included t-cell apoptosis induced vzv varicella–zoster virus peripheral-blood mononuclear cells primary immunodeficiency diseases polymerase-chain-reaction ca2+-free ringer green intermediate ca2+ stim1-deficient fibroblasts harvested disrupting ca2+ entry activates crac channels natural killer cells intracellular ca2+ concentrations full text varicella–zoster virus ca2+ store depletion rare familial disorder phorbol 12-myristate 13-acetate stromal interaction molecule primary immunodeficiency marked calcium current activated nm cd4+cd45ra+cd31+ vectors expressing orai1 retroviral expression vectors intracellular ca2+ stores
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