{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T13:27:34Z","timestamp":1740144454939,"version":"3.37.3"},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,6,28]],"date-time":"2018-06-28T00:00:00Z","timestamp":1530144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Science and Technology","award":["2012ZX09103-301-003"],"award-info":[{"award-number":["2012ZX09103-301-003"]}]},{"name":"Science and Technology Development of Jilin Province","award":["20170414022GH"],"award-info":[{"award-number":["20170414022GH"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2018,8]]},"abstract":"Abstract<\/jats:title>Neurofibromatosis type 1 (NF<\/jats:styled-content>1), caused by germ line mutations of the NF<\/jats:styled-content>1 tumor\u2010suppressor gene, is one of the most common autosomal dominant disorders. Here, we reported a NF<\/jats:styled-content>1 patient with the mutation NF<\/jats:styled-content>1 c.4367+1G>C. This sequence change locates at the first nucleotide of NF<\/jats:styled-content>1 intron 32 within the consensus splice site. Compared with NF<\/jats:styled-content>1 c.4367G>C predicted to potentially damage the wild\u2010type donor site at c.4367, the NF<\/jats:styled-content>1 c.4367+1G>C potentially abolishes this wild\u2010type donor site by in silico<\/jats:italic> analysis. In vitro<\/jats:italic> minigene assay revealed that the NF<\/jats:styled-content>1 c.4367+1G>C may cause exon 32 skipping. Our result provides further evidence for its clinical significance of NF<\/jats:styled-content>1 c.4367+1G>C in clinical practise.<\/jats:p>","DOI":"10.1111\/1346-8138.14493","type":"journal-article","created":{"date-parts":[[2018,6,28]],"date-time":"2018-06-28T08:49:50Z","timestamp":1530175790000},"page":"986-988","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1064-3718","authenticated-orcid":false,"given":"Ying","family":"Fu","sequence":"first","affiliation":[{"name":"Jilin Medical University Jilin China"},{"name":"National Engineering Laboratory for AIDS Vaccine School of Life Sciences Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia\u2010qi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Jilin Medical University Jilin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chun\u2010lai","family":"Jiang","sequence":"additional","affiliation":[{"name":"National Engineering Laboratory for AIDS Vaccine School of Life Sciences Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui\u2010yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Jilin Medical University Jilin China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,6,28]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"761","article-title":"Analysis of the neurofibromatosis type 1 (NF1) GAP\u2010related domain by site\u2010directed mutagenesis","volume":"8","author":"Gutmann DH","year":"1993","journal-title":"Oncogene"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2263"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199706123362404"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20493"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100514"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100594"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.145"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20826"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0134(199702)27:2<315::AID-PROT17>3.0.CO;2-P"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.14493","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14493","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T01:56:42Z","timestamp":1695002202000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.14493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,28]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1111\/1346-8138.14493"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.14493","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2018,6,28]]},"assertion":[{"value":"2018-02-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}