{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T17:13:11Z","timestamp":1775754791448,"version":"3.50.1"},"reference-count":47,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T00:00:00Z","timestamp":1673308800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ben-Gurion University of the Negev, Faculty of Health Sciences","award":["3359218700"],"award-info":[{"award-number":["3359218700"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Dilated cardiomyopathy (DCM) with left ventricular non-compaction (LVNC) is a primary myocardial disease leading to contractile dysfunction, progressive heart failure, and excessive risk of sudden cardiac death. Using whole-exome sequencing to investigate a possible genetic cause of DCM with LVNC in a consanguineous child, a homozygous nucleotide change c.1532G&gt;A causing p.Arg511His in PHACTR2 was found. The missense change can affect the binding of PHACTR2 to actin by eliminating the hydrogen bonds between them. The amino acid change does not change PHACTR2 localization to the cytoplasm. The patient\u2019s fibroblasts showed a decreased globular to fibrillary actin ratio compared to the control fibroblasts. The re-polymerization of fibrillary actin after treatment with cytochalasin D, which disrupts the actin filaments, was slower in the patient\u2019s fibroblasts. Finally, the patient\u2019s fibroblasts bridged a scar gap slower than the control fibroblasts because of slower and indirect movement. This is the first report of a human variation in this PHACTR family member. The knock-out mouse model presented no significant phenotype. Our data underscore the importance of PHACTR2 in regulating the monomeric actin pool, the kinetics of actin polymerization, and cell movement, emphasizing the importance of actin regulation for the normal function of the human heart.<\/jats:p>","DOI":"10.3390\/ijms24021388","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T02:06:03Z","timestamp":1673402763000},"page":"1388","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1282-9081","authenticated-orcid":false,"given":"Pierre","family":"Majdalani","sequence":"first","affiliation":[{"name":"The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"},{"name":"The National Institute for Biotechnology in the Negev, Marcus Campus, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2340-1822","authenticated-orcid":false,"given":"Aviva","family":"Levitas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Krymko","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonel","family":"Slanovic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2802-1148","authenticated-orcid":false,"given":"Alex","family":"Braiman","sequence":"additional","affiliation":[{"name":"The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uzi","family":"Hadad","sequence":"additional","affiliation":[{"name":"The Ilse Katz Institute for Nanoscale Science and Technology, Marcus Campus, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0939-5953","authenticated-orcid":false,"given":"Salam","family":"Dabsan","sequence":"additional","affiliation":[{"name":"The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"},{"name":"The National Institute for Biotechnology in the Negev, Marcus Campus, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6646-9061","authenticated-orcid":false,"given":"Amir","family":"Horev","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Service, Soroka University Medical Center, Beer-Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6543-0296","authenticated-orcid":false,"given":"Raz","family":"Zarivach","sequence":"additional","affiliation":[{"name":"The National Institute for Biotechnology in the Negev, Marcus Campus, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"},{"name":"Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0656-3096","authenticated-orcid":false,"given":"Ruti","family":"Parvari","sequence":"additional","affiliation":[{"name":"The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel"},{"name":"The National Institute for Biotechnology in the Negev, Marcus Campus, Ben-Gurion University of the Negev, Beer-Sheva 84105, 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