{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:30:22Z","timestamp":1761733822843,"version":"build-2065373602"},"reference-count":23,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003329","name":"MINECO","doi-asserted-by":"publisher","award":["SAF2012-30871"],"award-info":[{"award-number":["SAF2012-30871"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the Comunidad de Madrid","award":["ENDOSCREEN S2010\/BMD-2396"],"award-info":[{"award-number":["ENDOSCREEN S2010\/BMD-2396"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2016,8]]},"DOI":"10.1016\/j.ejmg.2016.06.002","type":"journal-article","created":{"date-parts":[[2016,6,6]],"date-time":"2016-06-06T15:51:46Z","timestamp":1465228306000},"page":"363-366","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient"],"prefix":"10.1016","volume":"59","author":[{"given":"Jimena","family":"Barraza-Garc\u00eda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos I.","family":"Rivera-Pedroza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberta","family":"Belinch\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlota","family":"Fern\u00e1ndez-Camblor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blanca","family":"Valenciano-Fuente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5816-7044","authenticated-orcid":false,"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejmg.2016.06.002_bib1","first-page":"245","article-title":"SMARCAL1 and replication stress: an explanation for SIOD?","volume":"1","author":"Bansbach","year":"2010","journal-title":"Nucleus"},{"issue":"11","key":"10.1016\/j.ejmg.2016.06.002_bib2","doi-asserted-by":"crossref","first-page":"2572","DOI":"10.1093\/hmg\/dds083","article-title":"Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression","volume":"21","author":"Baradaran-Heravi","year":"2012","journal-title":"Hum. Mol. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2016.06.002_bib3","doi-asserted-by":"crossref","first-page":"2609","DOI":"10.1002\/ajmg.a.36111","article-title":"Bone marrow transplantation in Schimke immuno-osseous dysplasia","volume":"161A","author":"Baradaran-Heravi","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"9","key":"10.1016\/j.ejmg.2016.06.002_bib4","doi-asserted-by":"crossref","first-page":"2204","DOI":"10.1002\/ajmg.a.35532","article-title":"SMARCAL1 deficiency predisposes to non-hodgkin lymphoma and hypersensitivity to genotoxic agents in\u00a0vivo","volume":"158A","author":"Baradaran-Heravi","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"issue":"15","key":"10.1016\/j.ejmg.2016.06.002_bib5","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1002\/ajmg.a.32406","article-title":"Clinical and genetic distinction of schimke immuno-osseous dysplasia and cartilage-hair hypoplasia","volume":"146A","author":"Baradaran-Heravi","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.ejmg.2016.06.002_bib6","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1101\/gad.178459.111","article-title":"SMARCAL1 catalyzes fork regression and holiday junction migration to maintain genome stability during DNA replication","volume":"26","author":"B\u00e9tous","year":"2012","journal-title":"Genes Dev."},{"issue":"7","key":"10.1016\/j.ejmg.2016.06.002_bib7","doi-asserted-by":"crossref","first-page":"4110","DOI":"10.1074\/jbc.M114.627083","article-title":"High-affinity DNA-binding domains of replication protein A (RPA) direct SMARCAL1-dependent replication fork remodeling","volume":"290","author":"Bhat","year":"2015","journal-title":"J.\u00a0Biol. Chem."},{"issue":"1\u20132","key":"10.1016\/j.ejmg.2016.06.002_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004310050001","article-title":"Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature","volume":"159","author":"Boerkoel","year":"2000","journal-title":"Eur. J. Pediatr."},{"issue":"2","key":"10.1016\/j.ejmg.2016.06.002_bib9","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/ng821","article-title":"Mutant chromatin remodeling protein SMARCAL1 causes schimke immuno-osseous dysplasia","volume":"30","author":"Boerkoel","year":"2002","journal-title":"Nat. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2016.06.002_bib10","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1002\/ajmg.a.37146","article-title":"A\u00a0novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia","volume":"167A","author":"Carroll","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.ejmg.2016.06.002_bib11","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jmg.2006.044313","article-title":"Schimke immuno-osseous dysplasia: a clinicopathological correlation","volume":"44","author":"Clewing","year":"2007","journal-title":"J.\u00a0Med. Genet."},{"issue":"14","key":"10.1016\/j.ejmg.2016.06.002_bib12","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1101\/gad.214080.113","article-title":"ATR phosphorylates SMARCAL1 to prevent replication fork collapse","volume":"27","author":"Couch","year":"2013","journal-title":"Genes Dev."},{"issue":"6","key":"10.1016\/j.ejmg.2016.06.002_bib13","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1097\/NEN.0b013e3181772777","article-title":"Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1","volume":"67","author":"Deguchi","year":"2008","journal-title":"J.\u00a0Neuropathol. Exp. Neurol."},{"issue":"4","key":"10.1016\/j.ejmg.2016.06.002_bib14","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1203\/PDR.0b013e31816721cc","article-title":"Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype","volume":"63","author":"Dekel","year":"2008","journal-title":"Pediatr. Res."},{"issue":"1","key":"10.1016\/j.ejmg.2016.06.002_bib15","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1136\/jmg.2008.060095","article-title":"Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation","volume":"46","author":"Elizondo","year":"2009","journal-title":"J.\u00a0Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2016.06.002_bib16","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ajmg.a.31089","article-title":"Schimke immuno-osseous dysplasia: a cell autonomous disorder?","volume":"140","author":"Elizondo","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"issue":"18","key":"10.1016\/j.ejmg.2016.06.002_bib17","doi-asserted-by":"crossref","first-page":"3052","DOI":"10.1021\/bi500252w","article-title":"Structural analysis of replication protein A recruitment of the DNA damage response protein SMARCAL1","volume":"53","author":"Feldkamp","year":"2014","journal-title":"Biochemistry"},{"issue":"13","key":"10.1016\/j.ejmg.2016.06.002_bib18","doi-asserted-by":"crossref","first-page":"6359","DOI":"10.1093\/nar\/gkv621","article-title":"Smarcal1 promotes double-strand-break repair by nonhomologous end-joining","volume":"43","author":"Keka","year":"2015","journal-title":"Nucleic Acids Res."},{"issue":"21","key":"10.1016\/j.ejmg.2016.06.002_bib19","doi-asserted-by":"crossref","first-page":"7618","DOI":"10.1073\/pnas.1324143111","article-title":"A\u00a0structure-specific nucleic acid-binding domain conserved among DNA repair proteins","volume":"111","author":"Mason","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"7","key":"10.1016\/j.ejmg.2016.06.002_bib20","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/ejhg.2014.205","article-title":"Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants","volume":"23","author":"Paumard-Hern\u00e1ndez","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"issue":"48","key":"10.1016\/j.ejmg.2016.06.002_bib21","doi-asserted-by":"crossref","first-page":"14864","DOI":"10.1073\/pnas.1510750112","article-title":"SMARCAL1 maintains telomere integrity during DNA replication","volume":"112","author":"Poole","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ejmg.2016.06.002_bib22","first-page":"15","article-title":"A\u00a0novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)","volume":"3","author":"Santangelo","year":"2014","journal-title":"BMC Nephrol."},{"issue":"10","key":"10.1016\/j.ejmg.2016.06.002_bib23","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1136\/jmg.36.10.786","article-title":"Schimke immuno-osseous dysplasia: case report and review of 25 patients","volume":"36","author":"Saraiva","year":"1999","journal-title":"J.\u00a0Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216301124?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216301124?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:21Z","timestamp":1761709401000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216301124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8]]},"references-count":23,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["S1769721216301124"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.06.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2016,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.06.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}