{"id":"https://openalex.org/W2968136162","doi":"https://doi.org/10.1055/s-0039-1694829","title":"Novel Variations in \u03b2-Myosin Heavy-Chain Gene (\u03b2-MYH7) and Its Association in South Indian Women with Cardiomyopathies","display_name":"Novel Variations in \u03b2-Myosin Heavy-Chain Gene (\u03b2-MYH7) and Its Association in South Indian Women with Cardiomyopathies","publication_year":2019,"publication_date":"2019-05-01","ids":{"openalex":"https://openalex.org/W2968136162","doi":"https://doi.org/10.1055/s-0039-1694829","mag":"2968136162"},"language":"en","primary_location":{"id":"doi:10.1055/s-0039-1694829","doi":"https://doi.org/10.1055/s-0039-1694829","is_oa":true,"landing_page_url":"https://doi.org/10.1055/s-0039-1694829","pdf_url":"http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0039-1694829.pdf","source":{"id":"https://openalex.org/S4210202714","display_name":"Indian Journal of Cardiovascular Disease in Women","issn_l":"2455-7854","issn":["2455-7854","2835-4982"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310321135","host_organization_name":"Georg Thieme Verlag","host_organization_lineage":["https://openalex.org/P4310321135","https://openalex.org/P4310320000"],"host_organization_lineage_names":["Georg Thieme Verlag","Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Cardiovascular Disease in Women WINCARS","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0039-1694829.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050446429","display_name":"Deepa Selvi Rani","orcid":"https://orcid.org/0000-0002-2248-0397","observed_orcids":["https://orcid.org/0000-0002-2248-0397"]},"institutions":[{"id":"https://openalex.org/I185638415","display_name":"Centre for Cellular and Molecular Biology","ror":"https://ror.org/05shq4n12","country_code":"IN","type":"facility","lineage":["https://openalex.org/I185638415","https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Deepa Selvi Rani","raw_affiliation_strings":["CSIR-Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CSIR-Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India","institution_ids":["https://openalex.org/I185638415"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058584929","display_name":"Pratibha Nallari","orcid":"https://orcid.org/0000-0001-9770-8248","observed_orcids":["https://orcid.org/0000-0001-9770-8248","https://orcid.org/0000-0002-0219-8300"]},"institutions":[{"id":"https://openalex.org/I8975392","display_name":"Osmania University","ror":"https://ror.org/030sjb889","country_code":"IN","type":"education","lineage":["https://openalex.org/I8975392"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Pratibha Nallari","raw_affiliation_strings":["Department of Genetics, Osmania University, Hyderabad, Telangana, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Osmania University, Hyderabad, Telangana, India","institution_ids":["https://openalex.org/I8975392"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108678878","display_name":"Calambur Narasimhan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802469017","display_name":"CARE Hospitals","ror":"https://ror.org/01vka3a64","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2802469017"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Calambur Narasimhan","raw_affiliation_strings":["Department of Cardiology, CARE Hospitals, Hyderabad, Telangana, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, CARE Hospitals, Hyderabad, Telangana, India","institution_ids":["https://openalex.org/I2802469017"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080208431","display_name":"Kumarasamy Thangaraj K","orcid":"https://orcid.org/0000-0002-0075-0106","observed_orcids":["https://orcid.org/0000-0002-0075-0106"]},"institutions":[{"id":"https://openalex.org/I185638415","display_name":"Centre for Cellular and Molecular Biology","ror":"https://ror.org/05shq4n12","country_code":"IN","type":"facility","lineage":["https://openalex.org/I185638415","https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Kumarasamy Thangaraj","raw_affiliation_strings":["CSIR-Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CSIR-Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India","institution_ids":["https://openalex.org/I185638415"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3598,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.65609945,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":92,"max":96},"biblio":{"volume":"04","issue":"02","first_page":"072","last_page":"078"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":1.0,"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":1.0,"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":9.999999747378752e-05,"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/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/beta-myosin-heavy-chain","display_name":"beta-myosin heavy chain","score":0.9070000052452087},{"id":"https://openalex.org/keywords/myh7","display_name":"MYH7","score":0.7900000214576721},{"id":"https://openalex.org/keywords/hypertrophic-cardiomyopathy","display_name":"hypertrophic cardiomyopathy","score":0.8740000128746033},{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":1.0},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.8479999899864197},{"id":"https://openalex.org/keywords/sarcomere-mutations","display_name":"sarcomere gene mutations","score":0.7419999837875366},{"id":"https://openalex.org/keywords/hydrophobic-core","display_name":"hydrophobic core","score":0.7609999775886536},{"id":"https://openalex.org/keywords/cardiac-remodeling","display_name":"cardiac remodeling","score":0.734000027179718},{"id":"https://openalex.org/keywords/women","display_name":"women","score":0.4180000126361847},{"id":"https://openalex.org/keywords/south-indians","display_name":"South Indian population","score":0.628000020980835},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8029999732971191}],"concepts":[{"id":"https://openalex.org/C74581901","wikidata":"https://www.wikidata.org/wiki/Q14876107","display_name":"MYH7","level":4,"score":0.9684526324272156},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5873898863792419},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.5435947179794312},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.515224277973175},{"id":"https://openalex.org/C165525559","wikidata":"https://www.wikidata.org/wiki/Q224180","display_name":"Homology (biology)","level":3,"score":0.4749864637851715},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46840614080429077},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4551245868206024},{"id":"https://openalex.org/C2779962030","wikidata":"https://www.wikidata.org/wiki/Q2151267","display_name":"Restrictive cardiomyopathy","level":4,"score":0.4469713270664215},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.346615195274353},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2913156747817993},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.2557165026664734},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.1387089490890503},{"id":"https://openalex.org/C53345823","wikidata":"https://www.wikidata.org/wiki/Q5531554","display_name":"Gene isoform","level":3,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1055/s-0039-1694829","doi":"https://doi.org/10.1055/s-0039-1694829","is_oa":true,"landing_page_url":"https://doi.org/10.1055/s-0039-1694829","pdf_url":"http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0039-1694829.pdf","source":{"id":"https://openalex.org/S4210202714","display_name":"Indian Journal of Cardiovascular Disease in Women","issn_l":"2455-7854","issn":["2455-7854","2835-4982"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310321135","host_organization_name":"Georg Thieme Verlag","host_organization_lineage":["https://openalex.org/P4310321135","https://openalex.org/P4310320000"],"host_organization_lineage_names":["Georg Thieme Verlag","Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Cardiovascular Disease in Women WINCARS","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:8d8ed9e4793a48d39cf062bd35539d60","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/8d8ed9e4793a48d39cf062bd35539d60","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Indian Journal of Cardiovascular Disease in Women, Vol 04, Iss 02, Pp 072-078 (2019)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1055/s-0039-1694829","doi":"https://doi.org/10.1055/s-0039-1694829","is_oa":true,"landing_page_url":"https://doi.org/10.1055/s-0039-1694829","pdf_url":"http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0039-1694829.pdf","source":{"id":"https://openalex.org/S4210202714","display_name":"Indian Journal of Cardiovascular Disease in Women","issn_l":"2455-7854","issn":["2455-7854","2835-4982"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310321135","host_organization_name":"Georg Thieme Verlag","host_organization_lineage":["https://openalex.org/P4310321135","https://openalex.org/P4310320000"],"host_organization_lineage_names":["Georg Thieme Verlag","Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Cardiovascular Disease in Women WINCARS","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2968136162.pdf","grobid_xml":"https://content.openalex.org/works/W2968136162.grobid-xml"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W29776254","https://openalex.org/W196194830","https://openalex.org/W1901107326","https://openalex.org/W1931164952","https://openalex.org/W1982251587","https://openalex.org/W1983367496","https://openalex.org/W1993286003","https://openalex.org/W2011451134","https://openalex.org/W2013759344","https://openalex.org/W2020106206","https://openalex.org/W2021333248","https://openalex.org/W2021472574","https://openalex.org/W2023893835","https://openalex.org/W2026182775","https://openalex.org/W2033533772","https://openalex.org/W2052853661","https://openalex.org/W2058092320","https://openalex.org/W2059674806","https://openalex.org/W2061302189","https://openalex.org/W2061735545","https://openalex.org/W2083087816","https://openalex.org/W2098450085","https://openalex.org/W2100491746","https://openalex.org/W2117672044","https://openalex.org/W2119228812","https://openalex.org/W2120725832","https://openalex.org/W2127366732","https://openalex.org/W2127423627","https://openalex.org/W2128945680","https://openalex.org/W2129434797","https://openalex.org/W2133067061","https://openalex.org/W2140752009","https://openalex.org/W2149064638","https://openalex.org/W2149422196","https://openalex.org/W2149525061","https://openalex.org/W2159830386","https://openalex.org/W2161676629","https://openalex.org/W2165186407","https://openalex.org/W2169982561","https://openalex.org/W2318201098","https://openalex.org/W2325990028","https://openalex.org/W2346047523","https://openalex.org/W2422638045","https://openalex.org/W2546580166","https://openalex.org/W2768394232","https://openalex.org/W2894583446","https://openalex.org/W2908032063","https://openalex.org/W3010249902","https://openalex.org/W3161216590","https://openalex.org/W3165510353","https://openalex.org/W4206125957","https://openalex.org/W4211001885","https://openalex.org/W4238899010","https://openalex.org/W4243925634","https://openalex.org/W4251155334","https://openalex.org/W4300226248","https://openalex.org/W4410456335"],"related_works":["https://openalex.org/W4415790945","https://openalex.org/W3192622916","https://openalex.org/W2007722226","https://openalex.org/W2973109981","https://openalex.org/W2010087555","https://openalex.org/W3211976685","https://openalex.org/W2127240473","https://openalex.org/W2093486934","https://openalex.org/W2076399493","https://openalex.org/W1895225284"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Mutations":[2],"in":[3,30,38,56,80,129,160,185,201,228,244],"\u03b2-MYH7":[4,31,54,81],"gene":[5,32,55],"is":[6,145],"a":[7,125,173,223],"main":[8],"genetic":[9],"cause":[10],"of":[11,52,61,98,119,209,241],"cardiomyopathy":[12,64,68],"and":[13,33,48,70,109,111,131,194,211,218,230],"sudden":[14],"cardiac":[15,216],"arrest,":[16],"yet":[17],"the":[18,53,117,138,152,161,178,186,202,215,238,249],"molecular":[19],"mechanisms":[20],"have":[21],"not":[22],"been":[23,135],"fully":[24],"understood.":[25],"Objectives":[26],"To":[27],"identify":[28],"variations":[29,79],"their":[34,49],"possible":[35],"mechanistic":[36,239],"role":[37],"cardiomyopathies":[39],"among":[40],"Indian":[41,58],"women.":[42],"Methods":[43],"We":[44,221],"sequenced":[45],"all":[46],"exons":[47],"flanking":[50],"regions":[51],"188":[57],"women":[59],"consisting":[60],"33":[62],"hypertrophic":[63],"(HCM),":[65],"48":[66],"dilated":[67],"(DCM),":[69],"107":[71],"healthy":[72],"controls.":[73],"Results":[74],"Our":[75],"study":[76],"showed":[77],"21":[78],"gene,":[82],"including":[83],"7":[84],"novel":[85,224],"mutations.":[86],"In":[87,142,151],"addition,":[88],"we":[89,123],"compared":[90],"this":[91],"dataset":[92],"with":[93,170],"our":[94],"previously":[95],"studied":[96],"datasets":[97],"seven":[99],"other":[100,182],"sarcomere":[101],"genes":[102],"(ACTC,":[103],"TNNT2,":[104],"MYL2,":[105],"MYBPC3,":[106],"TPM1,":[107],"TNNI3,":[108],"MYL3)":[110],"found":[112],"no":[113],"causative":[114],"mutation,":[115,226],"confirming":[116],"nonexistence":[118],"compound":[120],"heterozygosity.":[121],"Interestingly,":[122],"detected":[124],"Val431Met":[126,225],"mutation":[127],"exclusively":[128,227],"patients,":[130,229],"its":[132,231],"pathogenicity":[133],"has":[134,235],"predicted":[136],"using":[137],"protein":[139],"homology":[140,153,232],"model.":[141],"native,":[143],"Val431":[144],"evolutionarily":[146],"conserved":[147],"across":[148],"many":[149],"species.":[150],"model,":[154],"mutant":[155],"Met431":[156],"gets":[157],"further":[158],"buried":[159],"hydrophobic":[162,168,183,187],"core":[163,188],"by":[164],"creating":[165],"an":[166],"aberrant":[167],"interaction":[169],"Leu352.":[171],"As":[172],"result,":[174],"it":[175],"probably":[176],"reduces":[177],"spatial":[179],"distances":[180],"between":[181],"interactions":[184],"that":[189],"may":[190,197],"produce":[191],"steric":[192],"hindrance":[193],"strain.":[195],"It":[196],"lead":[198],"to":[199,247],"deviation":[200,207],"structure":[203],"(root":[204],"means":[205],"square":[206],"[RMSD]":[208],"~3.9),":[210],"might":[212],"possibly":[213],"causing":[214],"remodeling":[217],"cardiomyopathy.":[219],"Conclusion":[220],"identified":[222],"model":[233],"p.Met431":[234],"profoundly":[236],"increased":[237],"understanding":[240],"disease":[242,250],"specifically":[243],"personalized":[245],"medicine,":[246],"block/inverse/diminish":[248],"phenotype.":[251]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2021,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-08-22T00:00:00"}
