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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Signaling through the store-operated Ca(2+) release-activated Ca(2+) (CRAC) channel regulates critical cellular functions, including gene expression, cell growth and differentiation, and Ca(2+) homeostasis. Loss-of-function mutations in the CRAC channel pore-forming protein ORAI1 or the Ca(2+) sensi...
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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
National Academy of Sciences
2014
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3964084/ https://ncbi.nlm.nih.gov/pubmed/24591628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1312520111 |
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