Associated Papers
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Genetics, 2025
A novel variant in the STIM1 gene leading to combined immunodeficiency and congenital myopathy.
Taherkhani A et al.
Immunologic Research, 2025
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Biorxiv : the Preprint Server for Biology, 2025
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
Burgos M et al.
Journal of Cell Science, 2021
Functional Analysis of Rare Genetic Variants in the Negative Regulator of Intracellular Calcium Signaling RCAS/SLC10A7.
Wannowius M et al.
Frontiers in Molecular Biosciences, 2021
STIM1-mediated calcium influx controls antifungal immunity and the metabolic function of non-pathogenic Th17 cells.
Kahlfuss S et al.
Embo Molecular Medicine, 2020
A novel frame shift mutation in STIM1 gene causing primary immunodeficiency.
Derakhshan D et al.
Intractable & Rare Diseases Research, 2020
The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling.
Karakus E et al.
Scientific Reports, 2020
32350310 (PubMed )
Supplement: 41598_2020_64006_MOESM1_ESM.pdf
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
Rice L et al.
Journal of Clinical Immunology, 2019
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.
Parry DA et al.
The Journal of Allergy and Clinical Immunology, 2016
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