{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:15:34Z","timestamp":1784938534125,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T00:00:00Z","timestamp":1716249600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["#PJT 159683"],"award-info":[{"award-number":["#PJT 159683"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","award":["RGPIN\u20102019\u201005082"],"award-info":[{"award-number":["RGPIN\u20102019\u201005082"]}],"id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"FRQS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Meier\u2013Gorlin syndrome (MGORS) is an autosomal recessive disorder characterized by short stature, microtia, and patellar hypoplasia, and is caused by pathogenic variants of cellular factors involved in the initiation of DNA replication. We previously reported that biallelic variants in\n                    <jats:italic>GINS3<\/jats:italic>\n                    leading to amino acid changes at position 24 (p.Asp24) cause MGORS. Here, we describe the phenotype of a new individual homozygous for the Asp24Asn variant. We also report the clinical characteristics of an individual harboring a novel homozygous\n                    <jats:italic>GINS3<\/jats:italic>\n                    variant (Ile25Phe) and features suggestive of MGORS. Modification of the corresponding residue in yeast Psf3 (Val9Phe) compromised S phase progression compared to a humanized Psf3 Val9Ile variant. Expression of Psf3 Val9Phe in yeast also caused sensitivity to elevated temperature and the replicative stress\u2010inducing drug hydroxyurea, confirming partial loss of function of this variant in vivo and allowing us to upgrade the classification of this variant. Taken together, these data validate the critical importance of the GINS DNA replication complex in the molecular etiology of MGORS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14545","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T02:45:16Z","timestamp":1716345916000},"page":"342-346","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Functional studies in yeast confirm the pathogenicity of a new\n                    <i>GINS3<\/i>\n                    <scp>Meier\u2013Gorlin<\/scp>\n                    syndrome variant"],"prefix":"10.1111","volume":"106","author":[{"given":"Yosra","family":"Mehrjoo","sequence":"first","affiliation":[{"name":"Maisonneuve\u2010Rosemont Hospital Research Center  Montreal Qu\u00e9bec Canada"},{"name":"Molecular Biology Program Universit\u00e9 de Montr\u00e9al  Montreal Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9713-7107","authenticated-orcid":false,"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[{"name":"CHU Sainte\u2010Justine  Montreal Qu\u00e9bec Canada"},{"name":"Department of Medicine Universit\u00e9 de Montr\u00e9al  Montreal Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"Al Abdi","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Aldowaish","sequence":"additional","affiliation":[{"name":"Department of Pediatrics King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Abouyousef","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Codina\u2010Sol\u00e0","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics Vall d'Hebron Barcelona Hospital Campus  Barcelona Catalonia Spain"},{"name":"Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus Autonomous University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Cueto\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics Vall d'Hebron Barcelona Hospital Campus  Barcelona Catalonia Spain"},{"name":"Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus Autonomous University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5733-1711","authenticated-orcid":false,"given":"Hugo","family":"Wurtele","sequence":"additional","affiliation":[{"name":"Maisonneuve\u2010Rosemont Hospital Research Center  Montreal Qu\u00e9bec Canada"},{"name":"Department of Medicine Universit\u00e9 de Montr\u00e9al  Montreal Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.115.186452"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010023\u201001359\u2010z"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102020\u2010107572"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.155648"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410\u2010248"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad989"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/35050000"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90727"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2019.08.024"}],"container-title":["Clinical 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