{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:53:47Z","timestamp":1792799627897,"version":"4.5.0"},"reference-count":35,"publisher":"American Society for Clinical Investigation","issue":"12","license":[{"start":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T00:00:00Z","timestamp":1718582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Science Foundation of China","doi-asserted-by":"crossref","award":["82171835,81800218,82230013"],"award-info":[{"award-number":["82171835,81800218,82230013"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, China","award":["PXM2014-014226-000012"],"award-info":[{"award-number":["PXM2014-014226-000012"]}]},{"name":"Beijing Municipal Public Welfare Development and Reform Pilot Project for Medical Research Institutes","award":["JYY2023-9"],"award-info":[{"award-number":["JYY2023-9"]}]},{"name":"National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung and Blood Institute grant","award":["UM1HG008900"],"award-info":[{"award-number":["UM1HG008900"]}],"id":[{"id":"https:\/\/ror.org\/012pb6c26","id-type":"ROR","asserted-by":"crossref"}]},{"name":"National Human Genome Research Institute grant","award":["R01HG009141"],"award-info":[{"award-number":["R01HG009141"]}],"id":[{"id":"https:\/\/ror.org\/00baak391","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,17]]},"abstract":"<jats:p>\n                    Research advances over the past 30 years have confirmed a critical role for genetics in the etiology of dilated cardiomyopathies (DCMs). However, full knowledge of the genetic architecture of DCM remains incomplete. We identified candidate DCM causal gene,\n                    <jats:italic>\n                      <jats:italic>C10orf71,<\/jats:italic>\n                    <\/jats:italic>\n                    in a large family with 8 patients with DCM by whole-exome sequencing. Four loss-of-function variants of\n                    <jats:italic>\n                      <jats:italic>C10orf71<\/jats:italic>\n                    <\/jats:italic>\n                    were subsequently identified in an additional group of492 patients with sporadic DCM from 2 independent cohorts. C10orf71 was found to be an intrinsically disordered protein specifically expressed in cardiomyocytes.\n                    <jats:italic>\n                      <jats:italic>C10orf71<\/jats:italic>\n                    <\/jats:italic>\n                    -KO mice had abnormal heart morphogenesis during embryonic development and cardiac dysfunction as adults with altered expression and splicing of contractile cardiac genes.\n                    <jats:italic>\n                      <jats:italic>C10orf71<\/jats:italic>\n                    <\/jats:italic>\n                    -null cardiomyocytes exhibited impaired contractile function with unaffected sarcomere structure. Cardiomyocytes and heart organoids derived from human induced pluripotent stem cells with\n                    <jats:italic>\n                      <jats:italic>C10orf71<\/jats:italic>\n                    <\/jats:italic>\n                    frameshift variants also had contractile defects with normal electrophysiological activity. A rescue study using a cardiac myosin activator, omecamtiv mecarbil, restored contractile function in\n                    <jats:italic>\n                      <jats:italic>C10orf71<\/jats:italic>\n                    <\/jats:italic>\n                    -KO mice. These data support\n                    <jats:italic>\n                      <jats:italic>C10orf71<\/jats:italic>\n                    <\/jats:italic>\n                    as a causal gene for DCM by contributing to the contractile function of cardiomyocytes. Mutation-specific pathophysiology may suggest therapeutic targets and more individualized therapy.\n                  <\/jats:p>","DOI":"10.1172\/jci177172","type":"journal-article","created":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T14:00:39Z","timestamp":1718546439000},"source":"Crossref","is-referenced-by-count":16,"title":["Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models"],"prefix":"10.1172","volume":"134","author":[{"given":"Yang","family":"Li","sequence":"first","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Ma","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhujun","family":"Dong","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shijuan","family":"Gao","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Huang","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yang","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangming","family":"Fang","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China."},{"name":"The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujie","family":"Li","sequence":"additional","affiliation":[{"name":"Novogene Co. Ltd., Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaowei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie","family":"Welch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily L.","family":"Griffin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prema","family":"Ramaswamy","sequence":"additional","affiliation":[{"name":"Maimonides Medical Center, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaheer","family":"Valivullah","sequence":"additional","affiliation":[{"name":"Broad Institute, Cambridge, Massachusetts, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuying","family":"Liu","sequence":"additional","affiliation":[{"name":"Changping Laboratory, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianzeng","family":"Dong","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital, Capital Medical University, Beijing, China."},{"name":"Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dao Wen","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 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