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
40737484 (PubMed )
Supplement: iyaf146_supplementary_data.zip › Supplementary_Table_4_GENETICS-2025-308212.xlsx › Curated
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
39896620 (PubMed )
Supplement: media-6.xlsx › Curated
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
de la Fuente-Munoz E et al.
Frontiers in Immunology, 2022
Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation.
Claeys T et al.
Neuromuscular Disorders : Nmd, 2020
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.
Silva-Rojas R et al.
Frontiers in Physiology, 2020
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