{"id":"https://openalex.org/W2039411908","doi":"https://doi.org/10.1016/j.yjmcc.2009.10.011","title":"Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes","display_name":"Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes","publication_year":2009,"publication_date":"2009-10-24","ids":{"openalex":"https://openalex.org/W2039411908","doi":"https://doi.org/10.1016/j.yjmcc.2009.10.011","mag":"2039411908","pmid":"https://pubmed.ncbi.nlm.nih.gov/19854198","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2854248"},"language":"en","primary_location":{"id":"doi:10.1016/j.yjmcc.2009.10.011","doi":"https://doi.org/10.1016/j.yjmcc.2009.10.011","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.yjmcc.2009.10.011","pdf_url":null,"source":{"id":"https://openalex.org/S111163638","display_name":"Journal of Molecular and Cellular Cardiology","issn_l":"0022-2828","issn":["0022-2828","1095-8584"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Molecular and Cellular Cardiology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2854248","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004148174","display_name":"Thomas Z. Armel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I188538660","display_name":"University of Colorado Boulder","ror":"https://ror.org/02ttsq026","country_code":"US","type":"education","lineage":["https://openalex.org/I188538660"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas Z. Armel","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, 347 UCB, University of Colorado, Boulder, CO 80309, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, 347 UCB, University of Colorado, Boulder, CO 80309, USA","institution_ids":["https://openalex.org/I188538660"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085095319","display_name":"Leslie Anne Leinwand","orcid":"https://orcid.org/0000-0003-1470-4810","observed_orcids":["https://orcid.org/0000-0003-1470-4810"]},"institutions":[{"id":"https://openalex.org/I188538660","display_name":"University of Colorado Boulder","ror":"https://ror.org/02ttsq026","country_code":"US","type":"education","lineage":["https://openalex.org/I188538660"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Leslie A. Leinwand","raw_affiliation_strings":["Department of Molecular, Cellular, and Developmental Biology, 347 UCB, University of Colorado, Boulder, CO 80309, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular, Cellular, and Developmental Biology, 347 UCB, University of Colorado, Boulder, CO 80309, USA","institution_ids":["https://openalex.org/I188538660"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5085095319"],"corresponding_institution_ids":["https://openalex.org/I188538660"],"apc_list":{"value":4120,"currency":"USD","value_usd":4120},"apc_paid":null,"fwci":3.0199,"has_fulltext":false,"cited_by_count":33,"citation_normalized_percentile":{"value":0.91744921,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"48","issue":"5","first_page":"1007","last_page":"1013"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9955999851226807,"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":0.9955999851226807,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.00279999990016222,"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"}},{"id":"https://openalex.org/T10044","display_name":"Protein Structure and Dynamics","score":0.00039999998989515007,"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/beta-myosin-heavy-chain","display_name":"beta-myosin heavy chain","score":0.9269999861717224},{"id":"https://openalex.org/keywords/myh7","display_name":"MYH7","score":0.9739999771118164},{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":0.984000027179718},{"id":"https://openalex.org/keywords/skeletal-myopathy","display_name":"skeletal myopathy","score":0.7960000038146973},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"cardiomyopathy","score":0.8579999804496765},{"id":"https://openalex.org/keywords/protein-thermodynamic-stability","display_name":"protein thermodynamic stability","score":0.8069999814033508},{"id":"https://openalex.org/keywords/filament-assembly","display_name":"filament assembly","score":0.765999972820282},{"id":"https://openalex.org/keywords/molecular-phenotypes","display_name":"molecular phenotypes","score":0.6549999713897705},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"clinical phenotype","score":0.6449999809265137}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7348507642745972},{"id":"https://openalex.org/C74581901","wikidata":"https://www.wikidata.org/wiki/Q14876107","display_name":"MYH7","level":4,"score":0.6953729391098022},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6643561720848083},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6538147330284119},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6257287263870239},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.5583505034446716},{"id":"https://openalex.org/C6997183","wikidata":"https://www.wikidata.org/wiki/Q271727","display_name":"Myosin","level":2,"score":0.5556429028511047},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.5223944187164307},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4509744346141815},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.21861478686332703},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.06900018453598022},{"id":"https://openalex.org/C53345823","wikidata":"https://www.wikidata.org/wiki/Q5531554","display_name":"Gene isoform","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000596","descriptor_name":"Amino Acids","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002152","descriptor_name":"Calorimetry, Differential Scanning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002942","descriptor_name":"Circular Dichroism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008841","descriptor_name":"Actin Cytoskeleton","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008841","descriptor_name":"Actin Cytoskeleton","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D008854","descriptor_name":"Microscopy, Electron","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008954","descriptor_name":"Models, Biological","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D013329","descriptor_name":"Structure-Activity Relationship","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013816","descriptor_name":"Thermodynamics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015879","descriptor_name":"Myosin Subfragments","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D049310","descriptor_name":"Distal Myopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055550","descriptor_name":"Protein Stability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.yjmcc.2009.10.011","doi":"https://doi.org/10.1016/j.yjmcc.2009.10.011","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.yjmcc.2009.10.011","pdf_url":null,"source":{"id":"https://openalex.org/S111163638","display_name":"Journal of Molecular and Cellular Cardiology","issn_l":"0022-2828","issn":["0022-2828","1095-8584"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Molecular and Cellular Cardiology","raw_type":"journal-article"},{"id":"pmid:19854198","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19854198","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of molecular and cellular cardiology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2854248","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2854248","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Mol Cell Cardiol","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2854248","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2854248","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Mol Cell Cardiol","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4891076397","display_name":"Interdisciplinary Predoctoral Training in Molecular Biophysics","funder_award_id":"T32GM065103","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G7487370140","display_name":"Mechanisms of myopathy caused by mutations in the myosin rod","funder_award_id":"R01HL085573","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W1520468740","https://openalex.org/W1969279532","https://openalex.org/W1970704071","https://openalex.org/W1972941208","https://openalex.org/W1981847437","https://openalex.org/W1992264344","https://openalex.org/W1996117515","https://openalex.org/W2001596762","https://openalex.org/W2025938842","https://openalex.org/W2032278776","https://openalex.org/W2035931833","https://openalex.org/W2050957868","https://openalex.org/W2063936107","https://openalex.org/W2064272399","https://openalex.org/W2064919114","https://openalex.org/W2073084279","https://openalex.org/W2073360367","https://openalex.org/W2074345274","https://openalex.org/W2092723070","https://openalex.org/W2101036829","https://openalex.org/W2117336448","https://openalex.org/W2123476288","https://openalex.org/W2188637467","https://openalex.org/W2330766099","https://openalex.org/W2341429619"],"related_works":["https://openalex.org/W1970704071","https://openalex.org/W2063692922","https://openalex.org/W2971359394","https://openalex.org/W2797364707","https://openalex.org/W3133029940","https://openalex.org/W1988011537","https://openalex.org/W4237850768","https://openalex.org/W4396507869","https://openalex.org/W1991006980","https://openalex.org/W1998024452"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":8}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
