{"doi":"10.3389/fcell.2020.585879","title":"RAD-Deficient Human Cardiomyocytes Develop Hypertrophic Cardiomyopathy Phenotypes Due to Calcium Dysregulation","abstract":null,"journal":"Frontiers in Cell and Developmental Biology","year":2020,"id":679396,"datarank":0.41588830833596724,"base_score":2.772588722239781,"endowment":2.772588722239781,"self_citation_contribution":0.41588830833596724,"citation_network_contribution":0.0,"self_endowment_contribution":0.41588830833596724,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":15,"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":819959,"name":"Yun Chang","orcid":"0000-0003-0731-7943","position":1,"is_corresponding":false},{"id":1350,"name":"Xiaolei Li","orcid":"0000-0001-5143-1810","position":2,"is_corresponding":false},{"id":259692,"name":"Xiaowei Li","orcid":"0000-0003-0714-1140","position":3,"is_corresponding":false},{"id":165278,"name":"Jian Gao","orcid":null,"position":4,"is_corresponding":false},{"id":1775078,"name":"Yafei Zhou","orcid":null,"position":5,"is_corresponding":false},{"id":1473586,"name":"Fujian Wu","orcid":"0000-0003-0291-3236","position":6,"is_corresponding":false},{"id":894236,"name":"Rui Bai","orcid":"0000-0002-0937-248X","position":7,"is_corresponding":false},{"id":106116,"name":"Tao Dong","orcid":"0000-0003-3545-3758","position":8,"is_corresponding":false},{"id":1775081,"name":"Shuhong Ma","orcid":null,"position":9,"is_corresponding":false},{"id":1189951,"name":"Siyao Zhang","orcid":"0000-0002-1071-3755","position":10,"is_corresponding":false},{"id":1775084,"name":"Wen-Jing Lu","orcid":null,"position":11,"is_corresponding":false},{"id":1775085,"name":"Xiaoqiu Tan","orcid":null,"position":12,"is_corresponding":false},{"id":259484,"name":"Yongming Wang","orcid":"0000-0001-8269-5296","position":13,"is_corresponding":false},{"id":547170,"name":"Feng Lan","orcid":"0000-0002-1709-5179","position":14,"is_corresponding":false},{"id":1775075,"name":"Ya’nan Li","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"RAD-Deficient Human Cardiomyocytes Develop Hypertrophic Cardiomyopathy Phenotypes Due to Calcium Dysregulation","abstract":"RAD (Ras associated with diabetes) is a membrane protein that acts as a calcium channel regulator by interacting with cardiac L-type Ca 2+ channels (LTCC). RAD defects can disrupt intracellular calcium dynamics and lead to cardiac hypertrophy. However, due to the lack of reliable human disease models, the pathological mechanism of RAD deficiency leading to cardiac hypertrophy is not well understood. In this study, we created a RRAD -/-H9 cell line using CRISPR/Cas9 technology. RAD disruption did not affect the ability and efficiency of myocardial differentiation. However, RAD deficient hESC-CMs recapitulate HCM phenotype in vitro. Further studies have shown that elevated intracellular calcium level and abnormal calcium regulation are the core mechanisms by which RAD deficiency leads to HCM. More importantly, management of calcium dysregulation has been found to be an effective way to prevent the development of HCM in vitro.","is_dataset_classified":null,"base_score":2.772588722239781,"endowment":2.772588722239781,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"33195237","pmcid":"PMC7642210","openalex_id":"https://openalex.org/W3094412139","authors":[],"funders":[{"funder_name":"National Natural Science Foundation of China","grant_id":"81970205","title":null},{"funder_name":"National Natural Science Foundation of China","grant_id":"81570215","title":null},{"funder_name":"Beijing Municipal Natural Science Foundation","grant_id":"Z190013","title":null}],"total_grants":3,"fwci":1.1064,"citation_percentile":0.80465264,"influential_citations":0,"citation_trend":[{"year":2021,"count":3},{"year":2022,"count":2},{"year":2023,"count":3},{"year":2024,"count":4},{"year":2025,"count":3}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.frontiersin.org/articles/10.3389/fcell.2020.585879/pdf","host_type":"journal"},{"url":"https://www.frontiersin.org/articles/10.3389/fcell.2020.585879/pdf","host_type":"publisher"},{"url":"https://www.frontiersin.org/articles/10.3389/fcell.2020.585879/full","host_type":"publisher"},{"url":"https://doi.org/10.3389/fcell.2020.585879","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/33195237","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7642210","host_type":"repository"},{"url":"https://doaj.org/article/b070f5427445468db8d77a714451f3da","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7642210","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7642210?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Cardiomyopathy and Myosin Studies","Viral Infections and Immunology Research","RNA and protein synthesis mechanisms"],"mesh_terms":[],"keywords":["Hypertrophic cardiomyopathy","Phenotype","Calcium","Cardiomyopathy","Cell biology","Medicine","Internal medicine","Biology","Heart failure","Genetics","Gene","Calcium channel blocker","Calcium Handling","Hcm","L-Type Cacpsdummy2+ Channels","Rad Deficiency","Rrad Knockout"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"bioproject"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-17T13:04:38.711032Z","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":[]}