{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:23:43Z","timestamp":1790627023342,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,11,2]],"date-time":"2004-11-02T00:00:00Z","timestamp":1099353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The regulatory regions of the neurofibromatosis type 1 (<jats:italic>NF1<\/jats:italic>) gene have scarcely been screened either for mutations of potential pathological importance or for functional polymorphisms. To address this question, a 987 bp sequence spanning the promoter and 5\u2032 flanking sequence of the human <jats:italic>NF1<\/jats:italic> gene was screened for sequence variants in 570 unrelated NF1 patients and 105 controls. Five novel sequence variants were identified, comprising a 14 bp deletion at \u2212142 within the promoter region, three single nucleotide substitutions in the 5\u2032UTR (C\u2009+\u2009247T, C\u2009+\u2009261G, G\u2009+\u2009462C), and a substitution (C\u2009+\u2009514T) at the 5\u2032 end of the coding region that served to generate a Stop codon. The latter is likely to be of pathological significance since it is predicted to lead to the synthesis of a truncated protein. The functional significance of three of the other variants (14 bp del, C\u2009+\u2009261G, G\u2009+\u2009462C) was explored by luciferase reporter gene expression and electrophoretic mobility shift assays. The del14 variant demonstrated allele\u2010specific protein binding without altered reporter gene expression and the G\u2009+\u2009462C allele showed slightly decreased reporter gene expression. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30358","type":"journal-article","created":{"date-parts":[[2004,11,12]],"date-time":"2004-11-12T23:47:59Z","timestamp":1100303279000},"page":"227-231","source":"Crossref","is-referenced-by-count":10,"title":["Functional analysis of polymorphic variation within the promoter and 5\u2032 untranslated region of the neurofibromatosis type 1 (<i>NF1<\/i>) gene"],"prefix":"10.1002","volume":"131A","author":[{"given":"Martin P.","family":"Horan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Osborn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Upadhyaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,11,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90270-N"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.22.9914"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302809"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9658"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1328"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10167"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(87)90418-9"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.9.2482"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-002-4002-5"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20011706"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570308.x"},{"issue":"157","key":"e_1_2_6_14_1","first-page":"888","article-title":"Identification of cis\u2010regulatory elements in the neurofibromatosis 1 gene","volume":"59","author":"Purandare SM","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"key":"e_1_2_6_16_1","first-page":"39","volume-title":"Neurofibromatosis Type 1; from geneotype to phenotype","author":"Viskochil DH","year":"1998"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30358","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:32:02Z","timestamp":1697059922000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,2]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,12,15]]}},"alternative-id":["10.1002\/ajmg.a.30358"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30358","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,2]]}}}