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Quoted phrase not found in phrase index: "Combined immunodeficiency due to STIM1 deficiency"
Page 1
ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16.
J Allergy Clin Immunol. 2018.
PMID: 29155098
Free PMC article.
Ca(2+) release-activated Ca(2+) channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome …
Ca(2+) release-activated Ca(2+) channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) …
Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant.
Derler I, Fahrner M, Carugo O, Muik M, Bergsmann J, Schindl R, Frischauf I, Eshaghi S, Romanin C.
Derler I, et al.
J Biol Chem. 2009 Jun 5;284(23):15903-15. doi: 10.1074/jbc.M808312200. Epub 2009 Apr 14.
J Biol Chem. 2009.
PMID: 19366689
Free PMC article.
Patients with severe combined immune deficiency (SCID) suffer from defective T-cell Ca2+ signaling. ...However, substitution by hydrophobic leucine, valine, or phenylalanine resulted in non-functional ORAI1 channels, despite preserved STIM1 coupling. Besides …
Patients with severe combined immune deficiency (SCID) suffer from defective T-cell Ca2+ signaling. ...However, substitution b …
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