{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T22:46:28Z","timestamp":1757544388494},"reference-count":0,"publisher":"Portland Press Ltd.","issue":"5","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1994,11,1]]},"abstract":"<jats:p>1. Neurofibromatosis type 1 is a common hereditary disorder characterized by the presence of multiple neurofibromas and caf\u00e9-au-lait spots, and is frequently associated with intellectual handicaps and brain tumours. The gene responsible for neurofibromatosis (the NF1 gene) codes for a protein of 2818 amino acids, termed neurofibromin, which has a domain related to mammalian ras GTPase-activating protein.<\/jats:p>\n               <jats:p>2. The NF1 gene gives rise to multiple transcripts generated by alternative splicing, that encode neurofibromin and its isoforms. These include type I mRNA coding for neurofibromin, type II mRNA coding for neurofibromin containing the insertion of 21 amino acids in the GTPase-activating protein-related domain and mRNA coding for an N-terminal isoform lacking the GTPase-activating protein-related domain (N-isoform).<\/jats:p>\n               <jats:p>3. In the present study, the relative levels of mRNAs encoding type I, type II and N-isoform were determined by S1-nuclease mapping analysis in human brain tissue and in primary brain tumours obtained from patients with tumours unrelated to neurofibromatosis type 1.<\/jats:p>\n               <jats:p>4. These three mRNAs were expressed in all ten brain tumours and in every region of the brain examined, with the highest levels found in the cerebellum. Type I mRNA was the predominant form in the human brain except for the pons, whereas type II mRNA was predominantly expressed in eight out of ten primary brain tumours.<\/jats:p>\n               <jats:p>5. In contrast, N-isoform mRNA was similarly expressed in normal brain tissue and brain tumours.<\/jats:p>\n               <jats:p>6. These findings suggest that neurofibromin and its isoforms have important physiological roles in the human brain and that the altered expression of type I and type II mRNAs in brain tumours may be related to the tumorigenesis.<\/jats:p>","DOI":"10.1042\/cs0870481","type":"journal-article","created":{"date-parts":[[2015,8,7]],"date-time":"2015-08-07T11:36:49Z","timestamp":1438947409000},"page":"481-485","update-policy":"http:\/\/dx.doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Multiple Transcripts of the Neurofibromatosis Type I Gene in Human Brain and in Brain Tumours"],"prefix":"10.1042","volume":"87","author":[{"given":"Kazuhiro","family":"Takahashi","sequence":"first","affiliation":[{"name":"Department of Applied Physiology and Molecular Biology, Tohoku University School of Medicine, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Applied Physiology and Molecular Biology, Tohoku University School of Medicine, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takamasa","family":"Kayama","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Tohoku University School of Medicine, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youichi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Miyagi Cancer Centre Hospital, Natori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Yoshimoto","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Tohoku University School of Medicine, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hironobu","family":"Sasano","sequence":"additional","affiliation":[{"name":"Second Department of Pathology, Tohoku University School of Medicine, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeki","family":"Shibahara","sequence":"additional","affiliation":[{"name":"Department of Applied Physiology and Molecular Biology, Tohoku University School of Medicine, Sendai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","container-title":["Clinical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/87\/5\/481\/465208\/cs0870481.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/clinsci\/article-pdf\/87\/5\/481\/465208\/cs0870481.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T22:49:24Z","timestamp":1638398964000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/clinsci\/article\/87\/5\/481\/76234\/Multiple-Transcripts-of-the-Neurofibromatosis-Type"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,11,1]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1994,11,1]]}},"URL":"https:\/\/doi.org\/10.1042\/cs0870481","relation":{},"ISSN":["0143-5221","1470-8736"],"issn-type":[{"value":"0143-5221","type":"print"},{"value":"1470-8736","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,11,1]]}}}