{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T14:47:45Z","timestamp":1764859665433,"version":"3.37.3"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T00:00:00Z","timestamp":1717027200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,1]]},"DOI":"10.1093\/qjmed\/hcae108","type":"journal-article","created":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T14:21:07Z","timestamp":1716992467000},"page":"681-684","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a De novo pathogenic missense variant (c.559G&amp;gt;A) in CASZ1 associated with dilated cardiomyopathy"],"prefix":"10.1093","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4680-364X","authenticated-orcid":false,"given":"R -L","family":"Liu","sequence":"first","affiliation":[{"name":"The Clinical Center for Gene Diagnosis and Therapy, The Second Xiangya Hospital of Central South University, Central South University , Changsha,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Plastic and Aesthetic (Burn) Surgery, The Second Xiangya Hospital, Central South University , Changsha,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W -H","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Chenzhou No.1 people\u2019s hospital of Hunan province , Chenzhou,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y -F","family":"Yang","sequence":"additional","affiliation":[{"name":"The Clinical Center for Gene Diagnosis and Therapy, The Second Xiangya Hospital of Central South University, Central South University , Changsha,","place":["China"]},{"name":"Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University , Changsha,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2634-6187","authenticated-orcid":false,"given":"L","family":"Xie","sequence":"additional","affiliation":[{"name":"The Clinical Center for Gene Diagnosis and Therapy, The Second Xiangya Hospital of Central South University, Central South University , Changsha,","place":["China"]},{"name":"Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University , Changsha,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Blood Transflusion, The Second Xiangya Hospital of Central South University, Central South University , Changsha,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,5,30]]},"reference":[{"key":"2024110519564995400_hcae108-B1","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1128\/MCB.06039-11","article-title":"Characterization of critical domains within the tumor suppressor CASZ1 required for transcriptional regulation and growth suppression","volume":"32","author":"Virden","year":"2012","journal-title":"Mol Cell Biol"},{"key":"2024110519564995400_hcae108-B2","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2024110519564995400_hcae108-B3","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1515\/cclm-2016-0612","article-title":"CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy","volume":"55","author":"Qiu","year":"2017","journal-title":"Clin Chem Lab Med"},{"key":"2024110519564995400_hcae108-B4","doi-asserted-by":"crossref","first-page":"e828","DOI":"10.1002\/mgg3.828","article-title":"A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy","volume":"7","author":"Guo","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"2024110519564995400_hcae108-B5","doi-asserted-by":"crossref","first-page":"12506","DOI":"10.3390\/ijms232012506","article-title":"Identification of a novel de novo variant in the CASZ1 causing a rare type of dilated cardiomyopathy","volume":"23","author":"Orlova","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2024110519564995400_hcae108-B6","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/onc.2016.179","article-title":"Identification of CASZ1 NES reveals potential mechanisms for loss of CASZ1 tumor suppressor activity in neuroblastoma","volume":"36","author":"Liu","year":"2017","journal-title":"Oncogene"}],"container-title":["QJM: An International Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/qjmed\/advance-article-pdf\/doi\/10.1093\/qjmed\/hcae108\/58307148\/hcae108.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/117\/9\/681\/60431474\/hcae108.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/117\/9\/681\/60431474\/hcae108.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T19:57:02Z","timestamp":1730836622000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/qjmed\/article\/117\/9\/681\/7685394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,30]]},"references-count":6,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2024,5,30]]},"published-print":{"date-parts":[[2024,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/qjmed\/hcae108","relation":{},"ISSN":["1460-2725","1460-2393"],"issn-type":[{"type":"print","value":"1460-2725"},{"type":"electronic","value":"1460-2393"}],"subject":[],"published-other":{"date-parts":[[2024,9]]},"published":{"date-parts":[[2024,5,30]]}}}