{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:29:46Z","timestamp":1790800186252,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R35GM136295"],"award-info":[{"award-number":["R35GM136295"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["1S10OD025033\u201001"],"award-info":[{"award-number":["1S10OD025033\u201001"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Individuals carrying pathogenic variants in\n                    <jats:italic>ACTC1<\/jats:italic>\n                    present with several cardiac phenotypes, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and left ventricular noncompaction cardiomyopathy. In the current work, we expand the clinical and genetic spectrum of phenotypes caused by\n                    <jats:italic>ACTC1<\/jats:italic>\n                    genetic variants by describing two individuals with heterozygous variants involving residues Gly57 or Glu101. These individuals presented with facial dysmorphism, short stature, and skeletal anomalies in addition to hypertrophic and left ventricular noncompaction cardiomyopathies. Protein structure analysis showed these variants alter the ATP binding or putative protein\u2013protein interactions, while in\u00a0vivo zebrafish analysis validated the pathogenicity of these\n                    <jats:italic>ACTC1<\/jats:italic>\n                    variants and their impact on the development of the cranial tissues. Combined with recent reports of other individuals with\n                    <jats:italic>ACTC1<\/jats:italic>\n                    variants and extracardiac phenotypes, this study provides further evidence of the extensive molecular and clinical diversity related to ACTC1.\n                  <\/jats:p>","DOI":"10.1111\/cge.14775","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T06:46:45Z","timestamp":1748328405000},"page":"713-719","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>\n                      <i>ACTC1<\/i>\n                    <\/scp>\n                    Variants Result in Isolated and Syndromic Cardiac Phenotypes"],"prefix":"10.1111","volume":"108","author":[{"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism University of Kentucky  Lexington Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Abdelmoti","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biochemistry University of Kentucky  Lexington Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seungjae","family":"Oh","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biochemistry University of Kentucky  Lexington Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreya","family":"White","sequence":"additional","affiliation":[{"name":"Bellarmine University  Louisville Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Starks","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism University of Kentucky  Lexington Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret G.","family":"Au","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism University of Kentucky  Lexington Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Biomedical Informatics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole K.","family":"Weaver","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantin V.","family":"Korotkov","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biochemistry University of Kentucky  Lexington Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8743-026X","authenticated-orcid":false,"given":"Emilia","family":"Galperin","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biochemistry University of Kentucky  Lexington Kentucky USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm302"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm239"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.119.002491"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0127903"},{"issue":"3","key":"e_1_2_9_6_1","article-title":"Variants in ACTC1 Underlie Distal Arthrogryposis Accompanied by Congenital Heart Defects","volume":"4","author":"Chong J. X.","year":"2023","journal-title":"HGG Advances"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14490"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31851"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2122641119"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pbiomolbio.2018.06.007"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.9.4406"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00486-12"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14775","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14775","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14775","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T11:25:19Z","timestamp":1777721119000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14775"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,27]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1111\/cge.14775"],"URL":"https:\/\/doi.org\/10.1111\/cge.14775","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14775\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14775\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14775\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14775\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14775\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14775\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14775\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,27]]},"assertion":[{"value":"2025-02-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}