{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:23:36Z","timestamp":1791296616027,"version":"4.1.0"},"reference-count":12,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2014,8,6]],"date-time":"2014-08-06T00:00:00Z","timestamp":1407283200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0104533","type":"journal-article","created":{"date-parts":[[2014,8,6]],"date-time":"2014-08-06T17:55:37Z","timestamp":1407347737000},"page":"e104533","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":15,"title":["A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL"],"prefix":"10.1371","volume":"9","author":[{"given":"Wei","family":"Ge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanzhe","family":"Kuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Le","family":"Bo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhice","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingshun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deqin","family":"Geng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2014,8,6]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1016\/S0140-6736(95)91557-5","article-title":"Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"346","author":"H Chabriat","year":"1995","journal-title":"Lancet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1002\/ana.410440506","article-title":"The phenotypic spectrum of CADASIL: clinical findings in 102 cases","volume":"44","author":"M Dichgans","year":"1998","journal-title":"Ann Neurol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng0393-256","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12","volume":"3","author":"E Tournier-Lasserve","year":"1993","journal-title":"Nat Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/383707a0","article-title":"Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia","volume":"383","author":"A Joutel","year":"1996","journal-title":"Nature"},{"key":"ref5","first-page":"247","article-title":"Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant","volume":"27","author":"A Bersano","year":"2012","journal-title":"Funct Neurol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1212\/01.wnl.0000324928.44694.f7","article-title":"Cysteine-sparing notch3 mutations: cadasil or cadasil variants?","volume":"71","author":"R Scheid","year":"2008","journal-title":"Neurology"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"2730","DOI":"10.1101\/gad.308904","article-title":"Notch3 is required for arterial identity and maturation of vascular smooth muscle cells","volume":"18","author":"V Domenga","year":"2004","journal-title":"Genes Dev"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1172\/JCI8047","article-title":"The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients","volume":"105","author":"A Joutel","year":"2000","journal-title":"J Clin Invest"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1093\/cvr\/cvs019","article-title":"Notch signalling in smooth muscle cells during development and disease","volume":"95","author":"C Fouillade","year":"2012","journal-title":"Cardiovasc Res"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/S0079-6603(08)60055-0","article-title":"Interaction of epidermal growth factor with its receptor","volume":"49","author":"SR Campion","year":"1994","journal-title":"Prog Nucleic Acid Res Mol Biol"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2533","DOI":"10.1093\/brain\/awh282","article-title":"Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients","volume":"127","author":"C Opherk","year":"2004","journal-title":"Brain"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1110\/ps.041207005","article-title":"Evolution of distinct EGF domains with specific functions","volume":"14","author":"MA Wouters","year":"2005","journal-title":"Protein Sci"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0104533","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T16:40:25Z","timestamp":1589042425000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0104533"}},"subtitle":[],"editor":[{"given":"Xiao-Jiang","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2014,8,6]]},"references-count":12,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2014,8,6]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0104533","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,6]]}}}