Annals of the New York Academy of Sciences· 2015Q1
Diseases caused by mutations in <i>ORAI1</i> and <i>STIM1</i>
- 450citations
- Q1SCImago
- 2015year
Short summary
Mutations in ORAI1 and STIM1 genes cause distinct human diseases by disrupting store-operated Ca2+ entry (SOCE) through CRAC channels. Loss-of-function mutations lead to SCID-like disease, autoimmunity, and ectodermal dysplasia, while gain-of-function mutations cause myopathy and bleeding disorders.
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