{"id":"https://openalex.org/W4387615214","doi":"https://doi.org/10.1161/res.133.suppl_1.p2036","title":"Abstract P2036: Induced Pluripotent Stem Cell- Derived Cardiomyocytes Provide New Insights Of The Pathogenic Consequences Of The Novel Frameshift Variant (c.5769delG) In MYH7 Gene","display_name":"Abstract P2036: Induced Pluripotent Stem Cell- Derived Cardiomyocytes Provide New Insights Of The Pathogenic Consequences Of The Novel Frameshift Variant (c.5769delG) In MYH7 Gene","publication_year":2023,"publication_date":"2023-08-04","ids":{"openalex":"https://openalex.org/W4387615214","doi":"https://doi.org/10.1161/res.133.suppl_1.p2036"},"language":"en","primary_location":{"id":"doi:10.1161/res.133.suppl_1.p2036","doi":"https://doi.org/10.1161/res.133.suppl_1.p2036","is_oa":false,"landing_page_url":"http://dx.doi.org/10.1161/res.133.suppl_1.p2036","pdf_url":null,"source":{"id":"https://openalex.org/S10652568","display_name":"Circulation Research","issn_l":"0009-7330","issn":["0009-7330","1524-4571"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation Research","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5085631409","display_name":"Sara Elshorbagy","orcid":"https://orcid.org/0000-0001-8784-2355","observed_orcids":["https://orcid.org/0000-0001-8784-2355"]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Sara Elshorbagy","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062115399","display_name":"Ayman Maher Ibrahim","orcid":"https://orcid.org/0000-0003-1865-5112","observed_orcids":["https://orcid.org/0000-0003-1865-5112"]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Ayman M Ibrahim","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108843644","display_name":"Fiesal Mohamed","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Fiesal Mohamed","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083151540","display_name":"Jerome Fourre","orcid":"https://orcid.org/0000-0002-0101-3466","observed_orcids":["https://orcid.org/0000-0002-0101-3466"]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jerome Fourre","raw_affiliation_strings":["Imperial College London, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London, London, United Kingdom","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111812180","display_name":"Barrett Downing","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Barrett Downing","raw_affiliation_strings":["Imperial College London, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London, London, United Kingdom","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010755144","display_name":"Manar Osman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Manar Osman","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076929473","display_name":"Hasnaa A. Elfawy","orcid":"https://orcid.org/0000-0003-0258-3783","observed_orcids":["https://orcid.org/0000-0003-0258-3783"]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Hasnaa A. Elfawy","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052018482","display_name":"Mariam Fathy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Mariam Fathy","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043301786","display_name":"Mona Allouba","orcid":"https://orcid.org/0000-0003-0790-8815","observed_orcids":["https://orcid.org/0000-0003-0790-8815"]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Mona Allouba","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012758884","display_name":"Yasmine Aguib","orcid":"https://orcid.org/0000-0001-6115-6752","observed_orcids":["https://orcid.org/0000-0001-6115-6752"]},"institutions":[{"id":"https://openalex.org/I4210131350","display_name":"Magdi Yacoub Heart Foundation","ror":"https://ror.org/03wq3ma67","country_code":"EG","type":"nonprofit","lineage":["https://openalex.org/I4210131350"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Yasmine Aguib","raw_affiliation_strings":["Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aswan Heart Cntr-Magdi Yacoub Foundation, Aswan, Egypt","institution_ids":["https://openalex.org/I4210131350"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049900014","display_name":"Cesare M. Terracciano","orcid":"https://orcid.org/0000-0003-2761-0696","observed_orcids":["https://orcid.org/0000-0003-2761-0696"]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Cesare M Terracciano","raw_affiliation_strings":["Imperial College London, London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London, London","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5011158638","display_name":"Magdi Habib Yacoub","orcid":"https://orcid.org/0000-0001-9070-8245","observed_orcids":["https://orcid.org/0000-0001-9070-8245","https://orcid.org/0000-0002-7624-2095","https://orcid.org/0000-0003-1000-9319"]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Magdi Yacoub","raw_affiliation_strings":["Imperial College London, Middlesex"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London, Middlesex","institution_ids":["https://openalex.org/I47508984"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"133","issue":"Suppl_1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8960000276565552,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8960000276565552,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.08229999989271164,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10505","display_name":"Pluripotent Stem Cells Research","score":0.008799999952316284,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hypertrophic-cardiomyopathy","display_name":"hypertrophic cardiomyopathy","score":0.996999979019165},{"id":"https://openalex.org/keywords/myh7","display_name":"MYH7","score":0.9760000109672546},{"id":"https://openalex.org/keywords/beta-myosin-heavy-chain","display_name":"beta-myosin heavy chain","score":0.9229999780654907},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7480000257492065},{"id":"https://openalex.org/keywords/induced-pluripotent-stem-cell-derived-cardiomyocytes","display_name":"iPSC-derived cardiomyocytes","score":0.9750000238418579},{"id":"https://openalex.org/keywords/calcium-handling","display_name":"calcium handling","score":0.8970000147819519},{"id":"https://openalex.org/keywords/calcium-transients","display_name":"calcium transients","score":0.8920000195503235},{"id":"https://openalex.org/keywords/cardiomyocyte-contractility","display_name":"cardiomyocyte contractility","score":0.8069999814033508},{"id":"https://openalex.org/keywords/myh6","display_name":"MYH6","score":0.9480000138282776},{"id":"https://openalex.org/keywords/disease-modeling","display_name":"disease modeling","score":0.4519999921321869}],"concepts":[{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.7339117527008057},{"id":"https://openalex.org/C74581901","wikidata":"https://www.wikidata.org/wiki/Q14876107","display_name":"MYH7","level":4,"score":0.7314249873161316},{"id":"https://openalex.org/C39133596","wikidata":"https://www.wikidata.org/wiki/Q5165683","display_name":"Contractility","level":2,"score":0.6726043224334717},{"id":"https://openalex.org/C83482732","wikidata":"https://www.wikidata.org/wiki/Q18029742","display_name":"MYH6","level":5,"score":0.6664609313011169},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.6061260104179382},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5470987558364868},{"id":"https://openalex.org/C6997183","wikidata":"https://www.wikidata.org/wiki/Q271727","display_name":"Myosin","level":2,"score":0.4736660122871399},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4475564956665039},{"id":"https://openalex.org/C8035138","wikidata":"https://www.wikidata.org/wiki/Q6017854","display_name":"Myosin light-chain kinase","level":3,"score":0.33450984954833984},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3216955363750458},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3192138075828552},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2650003731250763},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24826055765151978},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.22731134295463562},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.11675870418548584},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.11427927017211914}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1161/res.133.suppl_1.p2036","doi":"https://doi.org/10.1161/res.133.suppl_1.p2036","is_oa":false,"landing_page_url":"http://dx.doi.org/10.1161/res.133.suppl_1.p2036","pdf_url":null,"source":{"id":"https://openalex.org/S10652568","display_name":"Circulation Research","issn_l":"0009-7330","issn":["0009-7330","1524-4571"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation Research","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4395059887","https://openalex.org/W2289956653","https://openalex.org/W2593518576","https://openalex.org/W2108903695","https://openalex.org/W2916540517","https://openalex.org/W7162317041","https://openalex.org/W4380730314","https://openalex.org/W1973176929","https://openalex.org/W2149847832","https://openalex.org/W4389957918"],"abstract_inverted_index":{"Background:":[0],"the":[1,19,29,43,60,194,198],"genetic":[2],"basis":[3],"of":[4,76,170,181,193,197],"hypertrophic":[5],"cardiomyopathy":[6],"is":[7],"pleiotropic;":[8],"A":[9],"novel":[10,199],"disease":[11],"causing":[12],"frameshift":[13],"variant":[14,62,200],"(c.5769delG,":[15],"MYH7":[16,202,215],")":[17],"in":[18,131,141,201],"beta-myosin":[20],"heavy":[21],"chain":[22],"gene":[23,119,203],"has":[24],"been":[25,34],"recently":[26],"described.":[27],"However,":[28],"mechanisms":[30],"involved":[31],"have":[32,38,48],"not":[33],"adequately":[35],"defined.":[36],"We":[37,47],"used":[39],"iPSC-CMs":[40,89,171,189],"to":[41,68,117,137,146],"investigate":[42],"underlying":[44],"mechanisms.":[45],"Methods:":[46],"generated":[49],"patient-specific":[50],"iPSCs":[51,69],"from":[52,70,111,122],"clinically":[53],"and":[54,65,79,97,106,155,172,185,207],"genetically":[55],"defined":[56],"HCM":[57,125],"patients":[58],"carrying":[59],"pathogenic":[61,195],"(c.5769delG)":[63],"(n=3)":[64],"compared":[66,145],"them":[67],"healthy":[71],"controls":[72],"(n=3).":[73],"Optical":[74],"mapping":[75],"calcium":[77,132,142,205],"transients":[78],"cell":[80],"action":[81,161],"potential":[82,162],"were":[83,101],"performed":[84,102],"under":[85],"different":[86],"stimulation":[87],"conditions.":[88],"contractility":[90],"was":[91,115,149],"recorded":[92],"via":[93],"widefield":[94],"microscopy.":[95],"Gene":[96],"protein":[98],"expression":[99,120],"analyses":[100],"using":[103],"RT-PCR,":[104],"immunoblotting":[105],"immunocytochemistry.":[107],"RNA":[108],"sequencing":[109],"data":[110,121],"patients\u2019":[112,173],"myocardial":[113,174],"tissues":[114,175],"analyzed":[116],"validate":[118],"iPSC-CMs.":[123],"Results:":[124],"iPSCs-CMs":[126],"showed":[127,164,176],"a":[128,156,177],"significant":[129,166,178],"decrease":[130,140],"release":[133],"duration":[134],"(i.e.,":[135],"time":[136],"peak)":[138],"with":[139,151],"transient":[143],"amplitude,":[144],"controls.":[147],"This":[148],"associated":[150],"an":[152],"accelerated":[153],"contraction":[154,158],"decreased":[157],"amplitude.":[159],"Nonetheless,":[160],"analysis":[163,169],"no":[165],"changes.":[167],"Transcriptome":[168],"down":[179],"regulation":[180],"SERCA/ATP2A2":[182],",":[183,216],"MYH6":[184],"KCNIP2":[186],".":[187],"Conclusion:":[188],"provided":[190],"new":[191],"insights":[192],"consequences":[196],"on":[204],"handling":[206],"contractility.":[208],"Key":[209],"words:":[210],"Hypertrophic":[211],"Cardiomyopathy,":[212],"Disease":[213],"model,":[214],"iPSC-CMs,":[217],"Calcium":[218],"Handling,":[219],"Contractility.":[220]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2023-10-14T00:00:00"}