{"doi":"10.1016/j.clim.2024.110306","title":"Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation","abstract":null,"journal":"Clinical Immunology","year":2024,"id":685426,"datarank":0.26876392038420827,"base_score":1.791759469228055,"endowment":1.791759469228055,"self_citation_contribution":0.26876392038420827,"citation_network_contribution":0.0,"self_endowment_contribution":0.26876392038420827,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1028591,"name":"Pascal Cintas","orcid":"0000-0002-0242-4849","position":1,"is_corresponding":false},{"id":1790724,"name":"Corentin Claude","orcid":null,"position":2,"is_corresponding":false},{"id":1790725,"name":"Olivier Dellis","orcid":null,"position":3,"is_corresponding":false},{"id":1790727,"name":"Corinne Thèze","orcid":null,"position":4,"is_corresponding":false},{"id":1136667,"name":"Charles Van Goethem","orcid":"0000-0002-8769-5719","position":5,"is_corresponding":false},{"id":1136670,"name":"Mireille Cossée","orcid":"0000-0002-5931-7454","position":6,"is_corresponding":false},{"id":1790733,"name":"Martin Krahn","orcid":null,"position":7,"is_corresponding":false},{"id":1110119,"name":"Valérie Delague","orcid":"0000-0003-2652-362X","position":8,"is_corresponding":false},{"id":1790737,"name":"Marc Bartoli","orcid":null,"position":9,"is_corresponding":false},{"id":1790723,"name":"Benedicte Alary","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation","abstract":"Store-operated calcium entry (SOCE) plays a crucial role in maintaining cellular calcium homeostasis. This mechanism involves proteins, such as stromal interaction molecule 1 (STIM1) and ORAI1. Mutations in the genes encoding these proteins, especially STIM1, can lead to various diseases, including CRAC channelopathies associated with severe combined immunodeficiency. Herein, we describe a novel homozygous mutation, NM_003156 c.792-3C > G, in STIM1 in a patient with a clinical profile of CRAC channelopathy, including immune system deficiencies and muscle weakness. Functional analyses revealed three distinct spliced forms in the patient cells: wild-type, exon 7 skipping, and intronic retention. Calcium influx analysis revealed impaired SOCE in the patient cells, indicating a loss of STIM1 function. We developed an antisense oligonucleotide treatment that improves STIM1 splicing and highlighted its potential as a therapeutic approach. Our findings provide insights into the complex effects of STIM1 mutations and shed light on the multifaceted clinical presentation of the patient.","is_dataset_classified":null,"base_score":1.791759469228055,"endowment":1.791759469228055,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"38977117","pmcid":null,"openalex_id":"https://openalex.org/W4400379386","authors":[],"funders":[],"total_grants":0,"fwci":1.2742,"citation_percentile":0.7636528,"influential_citations":0,"citation_trend":[{"year":2024,"count":1},{"year":2025,"count":2},{"year":2026,"count":2}],"oa_status":"hybrid","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.1016/j.clim.2024.110306","host_type":"journal"},{"url":"https://doi.org/10.1016/j.clim.2024.110306","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1521661624004157?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1521661624004157?httpAccept=text/plain","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/38977117","host_type":"repository"},{"url":"https://hal.science/hal-04639441","host_type":"repository"},{"url":"https://hal.science/hal-05308069","host_type":"repository"},{"url":"https://hal.science/hal-04639441v1/document","host_type":"repository"}],"fields_of_study":["Ion Channels and Receptors","Ion channel regulation and function","Respiratory and Cough-Related Research","Humans","Stromal Interaction Molecule 1","Neoplasm Proteins","Mutation","Calcium","Channelopathies","Male","Calcium Release Activated Calcium Channels","Female","Severe Combined Immunodeficiency","ORAI1 Protein"],"mesh_terms":["Stromal Interaction Molecule 1","Calcium Release Activated Calcium Channels","ORAI1 Protein","Calcium","Female","Humans","Male","Mutation","Neoplasm Proteins","Severe Combined Immunodeficiency","Channelopathies"],"keywords":["STIM1","ORAI1","Channelopathy","Mutation","Biology","Exon","Alternative splicing","Cell biology","Mechanism (biology)","Genetics","Bioinformatics","Gene","Neuroscience","Endoplasmic reticulum","Therapy","Splicing","Immunodeficiency","Store-operated Calcium Entry","Crac Channelopathy"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Zero hunger"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-18T16:39:23.880372Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}