{"id":"https://openalex.org/W4395039749","doi":"https://doi.org/10.1161/circ.132.suppl_3.13033","title":"Abstract 13033: Titin Mutations in IPS Cells Define Sarcomere Insufficiency as a Cause of Dilated Cardiomyopathy (Best of Basic Science Abstract)","display_name":"Abstract 13033: Titin Mutations in IPS Cells Define Sarcomere Insufficiency as a Cause of Dilated Cardiomyopathy (Best of Basic Science Abstract)","publication_year":2015,"publication_date":"2015-11-10","ids":{"openalex":"https://openalex.org/W4395039749","doi":"https://doi.org/10.1161/circ.132.suppl_3.13033","mag":"2610537027"},"language":"en","primary_location":{"id":"doi:10.1161/circ.132.suppl_3.13033","doi":"https://doi.org/10.1161/circ.132.suppl_3.13033","is_oa":false,"landing_page_url":"https://doi.org/10.1161/circ.132.suppl_3.13033","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","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","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","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/A5038400796","display_name":"John Travis Hinson","orcid":"https://orcid.org/0000-0003-1455-113X","observed_orcids":["https://orcid.org/0000-0003-1455-113X"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Travis Hinson","raw_affiliation_strings":["Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","J. Travis Hinson"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"J. Travis Hinson","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038484024","display_name":"Anant Chopra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anant Chopra","raw_affiliation_strings":["Biomedical Engineering, Boston Univ, Boston, MA","Anant Chopra"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomedical Engineering, Boston Univ, Boston, MA","institution_ids":["https://openalex.org/I111088046"]},{"raw_affiliation_string":"Anant Chopra","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060100463","display_name":"Sandra Swist","orcid":"https://orcid.org/0000-0002-1269-2177","observed_orcids":["https://orcid.org/0000-0002-1269-2177"]},"institutions":[{"id":"https://openalex.org/I904495901","display_name":"Ruhr University Bochum","ror":"https://ror.org/04tsk2644","country_code":"DE","type":"education","lineage":["https://openalex.org/I904495901"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sandra Swist","raw_affiliation_strings":["Dept of Cardiovascular Physiology, Ruhr Univ, Bochum, Germany","Sandra Swist"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept of Cardiovascular Physiology, Ruhr Univ, Bochum, Germany","institution_ids":["https://openalex.org/I904495901"]},{"raw_affiliation_string":"Sandra Swist","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017868292","display_name":"Craig C Benson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1316535847","display_name":"Beth Israel Deaconess Medical Center","ror":"https://ror.org/04drvxt59","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316535847"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Craig Benson","raw_affiliation_strings":["Cardiovascular Medicine, BIDMC, Boston, MA","Craig Benson"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Medicine, BIDMC, Boston, MA","institution_ids":["https://openalex.org/I1316535847"]},{"raw_affiliation_string":"Craig Benson","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074722203","display_name":"Calvin Chen Sheng","orcid":"https://orcid.org/0000-0003-2530-9998","observed_orcids":["https://orcid.org/0000-0003-2530-9998"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Calvin Sheng","raw_affiliation_strings":["Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","Calvin Sheng"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Calvin Sheng","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091519310","display_name":"Navid A. Nafissi","orcid":"https://orcid.org/0000-0003-0706-9548","observed_orcids":["https://orcid.org/0000-0003-0706-9548"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Navid Nafissi","raw_affiliation_strings":["Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","Navid Nafissi"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Navid Nafissi","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029656504","display_name":"William J. Polacheck","orcid":"https://orcid.org/0000-0003-2728-0746","observed_orcids":["https://orcid.org/0000-0003-2728-0746"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William Polacheck","raw_affiliation_strings":["Biomedical Engineering, Boston Univ, Boston, MA","William Polacheck"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomedical Engineering, Boston Univ, Boston, MA","institution_ids":["https://openalex.org/I111088046"]},{"raw_affiliation_string":"William Polacheck","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058205173","display_name":"Norbert H\u00fcbner","orcid":"https://orcid.org/0000-0002-1218-6223","observed_orcids":["https://orcid.org/0000-0002-1218-6223"]},"institutions":[{"id":"https://openalex.org/I205582932","display_name":"Max Delbr\u00fcck Center","ror":"https://ror.org/04p5ggc03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I205582932"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Norbert Hubner","raw_affiliation_strings":["Cardiovascular and Metabolic Sciences, Max-Delbruck-Cntr, Berlin, Germany","Norbert Hubner"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular and Metabolic Sciences, Max-Delbruck-Cntr, Berlin, Germany","institution_ids":["https://openalex.org/I205582932"]},{"raw_affiliation_string":"Norbert Hubner","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068650860","display_name":"Wolfgang Albrecht Linke","orcid":"https://orcid.org/0000-0003-0801-3773","observed_orcids":["https://orcid.org/0000-0003-0801-3773"]},"institutions":[{"id":"https://openalex.org/I904495901","display_name":"Ruhr University Bochum","ror":"https://ror.org/04tsk2644","country_code":"DE","type":"education","lineage":["https://openalex.org/I904495901"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Wolfgang Linke","raw_affiliation_strings":["Cardiovascular Physiology, Rurh Univ, Bochum, Germany","Wolfgang Linke"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Physiology, Rurh Univ, Bochum, Germany","institution_ids":["https://openalex.org/I904495901"]},{"raw_affiliation_string":"Wolfgang Linke","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071216592","display_name":"Stuart A. Cook","orcid":"https://orcid.org/0000-0001-6628-194X","observed_orcids":["https://orcid.org/0000-0001-6628-194X"]},"institutions":[{"id":"https://openalex.org/I2800036501","display_name":"Royal Brompton & Harefield NHS Foundation Trust","ror":"https://ror.org/02218z997","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800036501"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Stuart Cook","raw_affiliation_strings":["Cardiovascular Disease, Royal Brompton and Harefield, London, United Kingdom","Stuart Cook"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Disease, Royal Brompton and Harefield, London, United Kingdom","institution_ids":["https://openalex.org/I2800036501"]},{"raw_affiliation_string":"Stuart Cook","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100609547","display_name":"Christopher S. Chen","orcid":"https://orcid.org/0000-0003-2445-8449","observed_orcids":["https://orcid.org/0000-0003-2445-8449"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christopher Chen","raw_affiliation_strings":["Biomedical Engineering, Boston Univ, Boston, MA","Christopher Chen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomedical Engineering, Boston Univ, Boston, MA","institution_ids":["https://openalex.org/I111088046"]},{"raw_affiliation_string":"Christopher Chen","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021544196","display_name":"Jonathan G. Seidman","orcid":"https://orcid.org/0000-0002-9082-3566","observed_orcids":["https://orcid.org/0000-0002-9082-3566"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonathan Seidman","raw_affiliation_strings":["Genetics, Harvard Med Sch, Boston, MA","Jonathan Seidman"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics, Harvard Med Sch, Boston, MA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Jonathan Seidman","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005091829","display_name":"Christine E. Seidman","orcid":"https://orcid.org/0000-0001-6380-1209","observed_orcids":["https://orcid.org/0000-0001-6380-1209"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christine Seidman","raw_affiliation_strings":["Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","Christine Seidman"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Medicine, Brigham and Women\u2019s Hosp, Boston, MA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Christine Seidman","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"132","issue":"suppl_3","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":0.989300012588501,"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":0.989300012588501,"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":0.0038999998942017555,"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":0.001500000013038516,"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/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":0.9829999804496765},{"id":"https://openalex.org/keywords/titin-mutations","display_name":"titin mutations","score":0.9150000214576721},{"id":"https://openalex.org/keywords/titin","display_name":"titin","score":0.6729999780654907},{"id":"https://openalex.org/keywords/induced-pluripotent-stem-cell-derived-cardiomyocytes","display_name":"iPSC-derived cardiomyocytes","score":0.9390000104904175},{"id":"https://openalex.org/keywords/cardiac-microtissues","display_name":"cardiac microtissues","score":0.703000009059906},{"id":"https://openalex.org/keywords/sarcomerogenesis","display_name":"sarcomerogenesis","score":0.7940000295639038},{"id":"https://openalex.org/keywords/cardiomyocyte-contractility","display_name":"cardiomyocyte contractility","score":0.9020000100135803}],"concepts":[{"id":"https://openalex.org/C90671521","wikidata":"https://www.wikidata.org/wiki/Q74314","display_name":"Titin","level":4,"score":0.9847819805145264},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9180649518966675},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.8541195392608643},{"id":"https://openalex.org/C68731436","wikidata":"https://www.wikidata.org/wiki/Q1337087","display_name":"Sarcomere","level":3,"score":0.7795155048370361},{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.6098761558532715},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.5665377974510193},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.5407367944717407},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.45166897773742676},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.38652780652046204},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.3497621715068817},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.21361082792282104},{"id":"https://openalex.org/C207200792","wikidata":"https://www.wikidata.org/wiki/Q428914","display_name":"Myocyte","level":2,"score":0.1836456060409546},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11952242255210876},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.06123968958854675},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1161/circ.132.suppl_3.13033","doi":"https://doi.org/10.1161/circ.132.suppl_3.13033","is_oa":false,"landing_page_url":"https://doi.org/10.1161/circ.132.suppl_3.13033","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","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","raw_type":"journal-article"},{"id":"mag:2610537027","doi":null,"is_oa":false,"landing_page_url":"https://circ.ahajournals.org/content/132/Suppl_3/A13033","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"Circulation","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"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/W2137802443","https://openalex.org/W4236130739","https://openalex.org/W2897278817","https://openalex.org/W2763560152","https://openalex.org/W3216010209","https://openalex.org/W4414491059","https://openalex.org/W7141774458","https://openalex.org/W7169786683","https://openalex.org/W4311767253","https://openalex.org/W7165890572"],"abstract_inverted_index":{"Introduction:":[0],"Dilated":[1],"cardiomyopathy":[2],"(DCM)":[3],"is":[4],"one":[5],"of":[6,15,58,63,73,130,147,166,328],"the":[7,46,53,71,84,123,155,163,194,216,228,286,326],"most":[8,54],"common":[9,55],"cardiovascular":[10,38],"disorders":[11],"with":[12,19,118,150,189,208,261,279],"a":[13,145,158,321],"prevalence":[14],"1:250":[16],"patients.":[17,95],"Patients":[18],"DCM":[20,32,78,103,131,290,329],"develop":[21],"left":[22,230],"ventricular":[23],"dilation,":[24],"systolic":[25],"dysfunction,":[26],"and":[27,89,125,135,157,175,181,196,250,253,259,267,272,300,312],"ultimately":[28],"heart":[29],"failure.":[30],"While":[31],"can":[33,319],"occur":[34],"due":[35],"to":[36,102,178,247,306,308,324],"acquired":[37],"conditions,":[39],"our":[40],"group":[41],"recently":[42],"identified":[43,276],"mutations":[44,69,82,98,119,153,192,263,284],"in":[45,61,70,77,83,93,99,120,122,154,162,193,215,227,235,244,277,285],"giant":[47],"sarcomere":[48,248],"protein":[49,243],"titin":[50],"(TTN)":[51],"as":[52],"genetic":[56],"cause":[57,289],"DCM,":[59],"occurring":[60],"15-20%":[62],"familial":[64],"or":[65],"sporadic":[66],"cases.":[67],"Truncation":[68],"A-band":[72,124,156,287],"TTN":[74,100,121,168,190,213,242,262,282],"are":[75,86,90,218,224,233,297,301],"enriched":[76],"cases,":[79],"while":[80,294],"truncation":[81,152,191,283],"I-band":[85,126,217,222,295],"less":[87,219],"pathogenic":[88,220],"commonly":[91],"found":[92],"normal":[94],"How":[96],"some":[97],"lead":[101,305],"remains":[104],"unclear.":[105],"Hypothesis:":[106],"We":[107,143],"tested":[108],"whether":[109],"myocytes":[110],"derived":[111,264],"from":[112,265],"induced":[113],"pluripotent":[114],"stem":[115],"cells":[116],"(iPS-CMs)":[117],"could":[127],"recapitulate":[128,270],"features":[129],"by":[132,291],"single":[133],"myocyte":[134],"cardiac":[136],"microtissue":[137],"(iPS-CMT)":[138],"assays.":[139],"Methods":[140],"&":[141],"Results:":[142],"engineered":[144],"panel":[146],"patient-specific":[148,266],"iPSc\u2019s":[149],"two":[151],"missense":[159],"mutation,":[160],"W976R,":[161],"Z/I":[164],"junction":[165],"TTN.":[167],"mutant":[169,241],"iPS-CMTs":[170,260],"had":[171,199],"impaired":[172,176,292],"baseline":[173],"contractility":[174,271],"response":[177],"both":[179],"mechanical":[180],"adrenergic":[182],"stress.":[183],"In":[184],"addition,":[185],"isogenic":[186],"iPSc":[187],"lines":[188],"A-":[195],"I-bands":[197],"also":[198],"similarly":[200],"reduced":[201],"contractile":[202],"function.":[203],"By":[204],"combining":[205],"functional":[206],"analyses":[207],"RNAseq,":[209],"we":[210,238],"determine":[211,325],"that":[212,240],"truncations":[214,296],"because":[221],"exons":[223],"spliced":[225,298],"out":[226,299],"adult":[229],"ventricle":[231],"but":[232],"expressed":[234],"iPS-CMs.":[236],"Finally,":[237],"demonstrate":[239],"iPS-CMs":[245,258],"leads":[246],"insufficiency":[249],"growth":[251,310],"factor":[252,311],"cell":[254,313],"signaling":[255,314],"deficiencies.":[256],"Conclusion:":[257],"CRISPR/CAS9-edited":[268],"iPScs":[269],"adaptation":[273],"deficiencies":[274],"often":[275],"patients":[278],"dilated":[280],"cardiomyopathy.":[281],"may":[288],"sarcomerogenesis":[293],"tolerated.":[302],"Sarcomere":[303],"abnormalities":[304],"failure":[307],"activate":[309],"pathways.":[315],"The":[316],"iPS-CMT":[317],"assay":[318],"be":[320],"powerful":[322],"strategy":[323],"pathogenicity":[327],"mutations.":[330]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-04-24T00:00:00"}
