{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T02:08:52Z","timestamp":1768874932034,"version":"3.49.0"},"reference-count":32,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2013,11,22]],"date-time":"2013-11-22T00:00:00Z","timestamp":1385078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0080548","type":"journal-article","created":{"date-parts":[[2013,11,22]],"date-time":"2013-11-22T23:02:06Z","timestamp":1385161326000},"page":"e80548","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":26,"title":["FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst"],"prefix":"10.1371","volume":"8","author":[{"given":"Yoji","family":"Ogura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoji","family":"Yabuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aritoshi","family":"Iida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuyo","family":"Kou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Kano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaaki","family":"Shiina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Kikuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiaki","family":"Toyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiro","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaya","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morio","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2013,11,22]]},"reference":[{"key":"ref1","first-page":"93","article-title":"Idiopathic (\u201ccongenital\u201d) spinal arachnoid diverticula. Clinical diagnosis and surgical results","volume":"56","author":"JM Cilluffo","year":"1981","journal-title":"Mayo Clin Proc"},{"key":"ref2","first-page":"116","article-title":"Multiple extradural arachnoid cysts as a cause of spinal cord compression in a child. Case report","volume":"91","author":"LM Myles","year":"1999","journal-title":"J Neurosurg"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/ajmg.a.31669","article-title":"Spinal extradural arachnoid cysts associated with distichiasis and lymphedema","volume":"143A","author":"S Yabuki","year":"2007","journal-title":"Am J Med Genet A"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1159\/000078911","article-title":"Spinal cord compression caused by extradural arachnoid cysts. Clinical examples and review","volume":"40","author":"IC Chang","year":"2004","journal-title":"Pediatr Neurosurg"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1177\/08830738020170101802","article-title":"Cervicothoracic extradural arachnoid cyst: possible association with obstetric brachial plexus palsy","volume":"17","author":"E Miravet","year":"2002","journal-title":"J Child Neurol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"204","DOI":"10.2214\/ajr.101.1.204","article-title":"Congenital spinal extradural cyst in two siblings","volume":"101","author":"KY Chynn","year":"1967","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"495","DOI":"10.3171\/jns.1968.28.5.0495","article-title":"Congenital intraspinal extradural cyst. Report of three cases in one family","volume":"28","author":"RM Bergland","year":"1968","journal-title":"J Neurosurg"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1097\/GIM.0b013e3181e5c7ea","article-title":"Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome","volume":"12","author":"R Sanchez-Carpintero","year":"2010","journal-title":"Genet Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/S1091-8531(03)00144-7","article-title":"Mutation of the FOXC2 gene in familial distichiasis","volume":"7","author":"BP Brooks","year":"2003","journal-title":"J AAPOS"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.39.7.478","article-title":"Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24","volume":"39","author":"G Brice","year":"2002","journal-title":"J Med Genet"},{"key":"ref11","first-page":"85","article-title":"Congenital heart disease in patients with primary lymphedemas","volume":"15","author":"CR Corbett","year":"1982","journal-title":"Lymphology"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1001\/archderm.135.3.347","article-title":"Lymphedema-distichiasis syndrome: report of a case and review","volume":"135","author":"SM Johnson","year":"1999","journal-title":"Arch Dermatol"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ana.410070410","article-title":"Hereditary spinal arachnoid cysts, distichiasis, and lymphedema","volume":"7","author":"JF Schwartz","year":"1980","journal-title":"Ann Neurol"},{"key":"ref14","first-page":"1","article-title":"Lymphedema-distichiasis and FOXC2 gene mutations","volume":"34","author":"RP Erickson","year":"2001","journal-title":"Lymphology"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1086\/316915","article-title":"Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome","volume":"67","author":"J Fang","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1159\/000323484","article-title":"Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency","volume":"48","author":"RH Mellor","year":"2011","journal-title":"J Vasc Res"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.gene.2012.01.098","article-title":"Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome","volume":"498","author":"E Sutkowska","year":"2012","journal-title":"Gene"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"W382","DOI":"10.1093\/nar\/gki387","article-title":"The FoldX web server: an online force field","volume":"33","author":"J Schymkowitz","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1086\/318792","article-title":"Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1","volume":"68","author":"RA Saleem","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1136\/jmg.38.11.761","article-title":"Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations","volume":"38","author":"RP Erickson","year":"2001","journal-title":"J Med Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1093\/hmg\/10.11.1185","article-title":"Truncating mutations in FOXC2 cause multiple lymphedema syndromes","volume":"10","author":"DN Finegold","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"7628","DOI":"10.1073\/pnas.90.16.7628","article-title":"Six members of the mouse forkhead gene family are developmentally regulated","volume":"90","author":"KH Kaestner","year":"1993","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/S0014-5793(00)01285-0","article-title":"MFH-1 is required for bone morphogenetic protein-2-induced osteoblastic differentiation of C2C12 myoblasts","volume":"470","author":"XL Yang","year":"2000","journal-title":"FEBS Lett"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1093\/hmg\/ddg123","article-title":"FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome","volume":"12","author":"BM Kriederman","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1002\/ajmg.a.35229","article-title":"Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation","volume":"158A","author":"MG Butler","year":"2012","journal-title":"Am J Med Genet A"},{"key":"ref26","first-page":"98","article-title":"Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review","volume":"41","author":"MT Dellinger","year":"2008","journal-title":"Lymphology"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"98","DOI":"10.3109\/13816811003620517","article-title":"A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation","volume":"31","author":"A Fabretto","year":"2010","journal-title":"Ophthalmic Genet"},{"key":"ref28","first-page":"14","article-title":"A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome","volume":"43","author":"AL Fauret","year":"2010","journal-title":"Lymphology"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1111\/j.1399-0004.2011.01674.x","article-title":"Identification of de novo mutations and rare variants in hypoplastic left heart syndrome","volume":"81","author":"M Iascone","year":"2012","journal-title":"Clin Genet"},{"key":"ref30","first-page":"3","article-title":"Clinical and genetic study of 46 Italian patients with primary lymphedema","volume":"45","author":"S Michelini","year":"2012","journal-title":"Lymphology"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/jid.2008.246","article-title":"Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema","volume":"129","author":"VL Verstraeten","year":"2009","journal-title":"J Invest Dermatol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"4627","DOI":"10.1242\/dev.124.22.4627","article-title":"Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis","volume":"124","author":"K Iida","year":"1997","journal-title":"Development"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0080548","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,17]],"date-time":"2022-03-17T05:05:35Z","timestamp":1647493535000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0080548"}},"subtitle":[],"editor":[{"given":"Andrea C.","family":"LeBlanc","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2013,11,22]]},"references-count":32,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2013,11,22]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0080548","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,22]]}}}