{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:31:12Z","timestamp":1787776272045,"version":"build-2784847793"},"reference-count":141,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the\n                    <jats:italic toggle=\"yes\">NF1<\/jats:italic>\n                    gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin. Neurofibromin plays a critical role in regulating the RAS signaling pathway, and its loss leads to uncontrolled cell proliferation and tumor development. Clinically, NF1 presents with variable manifestations, including caf\u00e9-au-lait spots, neurofibromas, optic gliomas, skeletal abnormalities, and cognitive deficits. The updated diagnostic criteria now incorporate genetic testing and choroidal anomalies, facilitating earlier and more accurate diagnoses. Recent molecular insights have revealed that neurofibromin interacts with multiple cellular pathways, contributing to diverse clinical presentations such as plexiform neurofibromas, which may transform into malignant peripheral nerve sheath tumors, and developmental issues such as scoliosis and learning disabilities. Current therapeutic approaches focus on targeting specific signaling molecules involved in tumorigenesis. This review aims to summarize the recent findings on the clinical features, molecular mechanisms, and potential treatments of NF1, offering a comprehensive understanding of the disorder\u2019s complexities and highlighting future research directions.\n                  <\/jats:p>","DOI":"10.4103\/ant.ant-d-24-00042","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T12:00:32Z","timestamp":1748001632000},"page":"64-75","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Recent Advancement of Neurofibromatosis Type 1: A Narrative Review"],"prefix":"10.4103","volume":"34","author":[{"given":"Po-Yuan","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Society for Neurological Rare Disorders-Taiwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Jen","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,5,23]]},"reference":[{"key":"R1-20250613","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1186\/2047-783X-14-3-102","article-title":"Neurofibromatosis","volume":"14","author":"Gerber","year":"2009","journal-title":"Eur J Med Res"},{"key":"R2-20250613","doi-asserted-by":"crossref","first-page":"17004","DOI":"10.1038\/nrdp.2017.4","article-title":"Neurofibromatosis type 1","volume":"3","author":"Gutmann","year":"2017","journal-title":"Nat Rev Dis 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