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
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Kong SW et al.
Npj Genomic Medicine, 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
Mapping interactions between the CRAC activation domain and CC1 regulating the activity of the ER Ca2+ sensor STIM1.
Shrestha N et al.
The Journal of Biological Chemistry, 2022
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
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Ticci C et al.
Muscle & Nerve, 2021
Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond.
Conte E et al.
Cells, 2021
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Salvi A et al.
Clinical Genetics, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 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
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G et al.
Human Mutation, 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
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
Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.
Michelucci A et al.
Cell Calcium, 2018
A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state.
Fahrner M et al.
Nature Communications, 2018
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS et al.
Annals of the New York Academy of Sciences, 2015
STIM1 and SLC24A4 Are Critical for Enamel Maturation.
Wang S et al.
Journal of Dental Research, 2014