{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T22:05:10Z","timestamp":1774389910114,"version":"3.50.1"},"reference-count":12,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2019,3]]},"DOI":"10.1016\/j.ejmg.2018.07.007","type":"journal-article","created":{"date-parts":[[2018,7,10]],"date-time":"2018-07-10T21:00:22Z","timestamp":1531256422000},"page":"182-185","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Further delineation of the phenotype caused by loss of function mutations in PRMT7"],"prefix":"10.1016","volume":"62","author":[{"given":"Irene","family":"Valenzuela","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Segura-Puimedon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1167-3852","authenticated-orcid":false,"given":"Benjam\u00edn","family":"Rodr\u00edguez-Santiago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Fern\u00e1ndez-Alvarez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Vendrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Llu\u00eds","family":"Armengol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.07.007_bib1","article-title":"Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review","author":"Agolini","year":"2017","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.07.007_bib2","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1038\/ng.3410","article-title":"Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families","volume":"47","author":"Akawi","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2018.07.007_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.molcel.2008.12.013","article-title":"Protein arginine methylation in mammals: who, what, and why","volume":"33","author":"Bedford","year":"2009","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ejmg.2018.07.007_bib4","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1038\/srep00805","article-title":"Dishevelled3 is a novel arginine methyl transferase substrate","volume":"2","author":"Bikkavilli","year":"2012","journal-title":"Sci. Rep."},{"issue":"6","key":"10.1016\/j.ejmg.2018.07.007_bib5","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1016\/j.celrep.2016.01.022","article-title":"PRMT7 preserves satellite cell regenerative capacity","volume":"14","author":"Blanc","year":"2016","journal-title":"Cell Rep."},{"issue":"24","key":"10.1016\/j.ejmg.2018.07.007_bib6","doi-asserted-by":"crossref","first-page":"2749","DOI":"10.1101\/gad.203356.112","article-title":"Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4","volume":"26","author":"Dhar","year":"2012","journal-title":"Genes Dev."},{"issue":"47","key":"10.1016\/j.ejmg.2018.07.007_bib7","doi-asserted-by":"crossref","first-page":"32604","DOI":"10.1074\/jbc.M114.609271","article-title":"Substrate specificity of human protein arginine methyltransferase 7 (PRMT7): the importance of acidic residues in the double E loop","volume":"289","author":"Feng","year":"2014","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2018.07.007_bib8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.0040355","article-title":"The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation","volume":"4","author":"Jelinic","year":"2006","journal-title":"PLoS Biol."},{"issue":"7","key":"10.1016\/j.ejmg.2018.07.007_bib9","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.2337\/db15-1500","article-title":"Prmt7 deficiency causes reduced skeletal muscle oxidative metabolism and age-related obesity","volume":"65","author":"Jeong","year":"2016","journal-title":"Diabetes"},{"issue":"5","key":"10.1016\/j.ejmg.2018.07.007_bib10","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1111\/cge.12884","article-title":"Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly","volume":"91","author":"Kernohan","year":"2017","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.07.007_bib11","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/jcp.21180","article-title":"Interplay between chromatin remodelers and protein arginine methyltransferases","volume":"213","author":"Pal","year":"2007","journal-title":"J. Cell. Physiol."},{"issue":"4","key":"10.1016\/j.ejmg.2018.07.007_bib12","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.4049\/jimmunol.1500224","article-title":"Histone arginine methylation by PRMT7 controls germinal center formation via regulating Bcl6 transcription","volume":"195","author":"Ying","year":"2015","journal-title":"J. Immunol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306912?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306912?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:46:41Z","timestamp":1761709601000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217306912"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["S1769721217306912"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.07.007","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2019,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Further delineation of the phenotype caused by loss of function mutations in PRMT7","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.07.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}]}}