Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/4653
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dc.contributor.authorOguzkan, S.-
dc.contributor.authorTerzi, Y.K.-
dc.contributor.authorCinbis, M.-
dc.contributor.authorAnlar, B.-
dc.contributor.authorAysun, S.-
dc.contributor.authorAyter, S.-
dc.date.accessioned2019-08-16T11:35:56Z-
dc.date.available2019-08-16T11:35:56Z-
dc.date.issued2006-
dc.identifier.issn0165-4608-
dc.identifier.urihttps://hdl.handle.net/11499/4653-
dc.identifier.urihttps://doi.org/10.1016/j.cancergencyto.2005.08.029-
dc.description.abstractNeurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 gene product, neurofibromin, has a GTPase-activating protein domain (GRD) that interacts with the Ras protein, which is crucial in regulating signal transduction and cell proliferation/differentiation. We performed mutation analyses in the NF1-GRD region (exons 21-27a) and in exons 4b, 16, 29, and 37, and intron 28 in 17 NF1 patients with tumors. We identified a large deletion in the NF1 gene in a patient with a rhabdomyosarcoma as well as a variation in intron 22 in a patient with an optic glioma. We also found a 4-base pair deletion in another patient with optic glioma. In addition, allelic loss of the NF1 locus was shown in a pilocytic astrocytoma. Functional analyses of mutations in the NF1 gene may provide further insights into the pathogenesis of NF1 tumors. © 2006 Elsevier Inc. All rights reserved.en_US
dc.language.isoenen_US
dc.relation.ispartofCancer Genetics and Cytogeneticsen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectgene producten_US
dc.subjectguanosine triphosphatase activating proteinen_US
dc.subjectneurofibrominen_US
dc.subjectRas proteinen_US
dc.subjectadolescenten_US
dc.subjectadulten_US
dc.subjectalleleen_US
dc.subjectarticleen_US
dc.subjectastrocytomaen_US
dc.subjectautosomal dominant disorderen_US
dc.subjectcancer risken_US
dc.subjectcell differentiationen_US
dc.subjectcell proliferationen_US
dc.subjectchilden_US
dc.subjectclinical articleen_US
dc.subjectexonen_US
dc.subjectfemaleen_US
dc.subjectfunctional assessmenten_US
dc.subjectgene deletionen_US
dc.subjectgene functionen_US
dc.subjectgene locusen_US
dc.subjectgene mutationen_US
dc.subjectgenetic analysisen_US
dc.subjectgenetic variabilityen_US
dc.subjecthumanen_US
dc.subjectintronen_US
dc.subjectmaleen_US
dc.subjectmalignant neoplastic diseaseen_US
dc.subjectmolecular geneticsen_US
dc.subjectmutational analysisen_US
dc.subjectneurofibromaen_US
dc.subjectneurofibromatosisen_US
dc.subjectoptic nerve gliomaen_US
dc.subjectpathogenesisen_US
dc.subjectpigment disorderen_US
dc.subjectpriority journalen_US
dc.subjectprotein domainen_US
dc.subjectprotein protein interactionen_US
dc.subjectrhabdomyosarcomaen_US
dc.subjectrisk factoren_US
dc.subjectsignal transductionen_US
dc.subjectAdolescenten_US
dc.subjectChilden_US
dc.subjectChild, Preschoolen_US
dc.subjectExonsen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectIntronsen_US
dc.subjectLoss of Heterozygosityen_US
dc.subjectMaleen_US
dc.subjectMiddle Ageden_US
dc.subjectMutationen_US
dc.subjectNeurofibromatosis 1en_US
dc.subjectPolymerase Chain Reactionen_US
dc.subjectPolymorphism, Single-Stranded Conformationalen_US
dc.titleMolecular genetic analyses in neurofibromatosis type 1 patients with tumorsen_US
dc.typeArticleen_US
dc.identifier.volume165en_US
dc.identifier.issue2en_US
dc.identifier.startpage167
dc.identifier.startpage167en_US
dc.identifier.endpage171en_US
dc.identifier.doi10.1016/j.cancergencyto.2005.08.029-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid16527612en_US
dc.identifier.scopus2-s2.0-33644761901en_US
dc.identifier.wosWOS:000236193300011en_US
dc.identifier.scopusqualityQ3-
dc.ownerPamukkale_University-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeArticle-
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.grantfulltextnone-
item.cerifentitytypePublications-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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