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https://hdl.handle.net/11499/4653
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Oguzkan, S. | - |
dc.contributor.author | Terzi, Y.K. | - |
dc.contributor.author | Cinbis, M. | - |
dc.contributor.author | Anlar, B. | - |
dc.contributor.author | Aysun, S. | - |
dc.contributor.author | Ayter, S. | - |
dc.date.accessioned | 2019-08-16T11:35:56Z | - |
dc.date.available | 2019-08-16T11:35:56Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 0165-4608 | - |
dc.identifier.uri | https://hdl.handle.net/11499/4653 | - |
dc.identifier.uri | https://doi.org/10.1016/j.cancergencyto.2005.08.029 | - |
dc.description.abstract | Neurofibromatosis 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.iso | en | en_US |
dc.relation.ispartof | Cancer Genetics and Cytogenetics | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | gene product | en_US |
dc.subject | guanosine triphosphatase activating protein | en_US |
dc.subject | neurofibromin | en_US |
dc.subject | Ras protein | en_US |
dc.subject | adolescent | en_US |
dc.subject | adult | en_US |
dc.subject | allele | en_US |
dc.subject | article | en_US |
dc.subject | astrocytoma | en_US |
dc.subject | autosomal dominant disorder | en_US |
dc.subject | cancer risk | en_US |
dc.subject | cell differentiation | en_US |
dc.subject | cell proliferation | en_US |
dc.subject | child | en_US |
dc.subject | clinical article | en_US |
dc.subject | exon | en_US |
dc.subject | female | en_US |
dc.subject | functional assessment | en_US |
dc.subject | gene deletion | en_US |
dc.subject | gene function | en_US |
dc.subject | gene locus | en_US |
dc.subject | gene mutation | en_US |
dc.subject | genetic analysis | en_US |
dc.subject | genetic variability | en_US |
dc.subject | human | en_US |
dc.subject | intron | en_US |
dc.subject | male | en_US |
dc.subject | malignant neoplastic disease | en_US |
dc.subject | molecular genetics | en_US |
dc.subject | mutational analysis | en_US |
dc.subject | neurofibroma | en_US |
dc.subject | neurofibromatosis | en_US |
dc.subject | optic nerve glioma | en_US |
dc.subject | pathogenesis | en_US |
dc.subject | pigment disorder | en_US |
dc.subject | priority journal | en_US |
dc.subject | protein domain | en_US |
dc.subject | protein protein interaction | en_US |
dc.subject | rhabdomyosarcoma | en_US |
dc.subject | risk factor | en_US |
dc.subject | signal transduction | en_US |
dc.subject | Adolescent | en_US |
dc.subject | Child | en_US |
dc.subject | Child, Preschool | en_US |
dc.subject | Exons | en_US |
dc.subject | Female | en_US |
dc.subject | Humans | en_US |
dc.subject | Introns | en_US |
dc.subject | Loss of Heterozygosity | en_US |
dc.subject | Male | en_US |
dc.subject | Middle Aged | en_US |
dc.subject | Mutation | en_US |
dc.subject | Neurofibromatosis 1 | en_US |
dc.subject | Polymerase Chain Reaction | en_US |
dc.subject | Polymorphism, Single-Stranded Conformational | en_US |
dc.title | Molecular genetic analyses in neurofibromatosis type 1 patients with tumors | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 165 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.startpage | 167 | |
dc.identifier.startpage | 167 | en_US |
dc.identifier.endpage | 171 | en_US |
dc.identifier.doi | 10.1016/j.cancergencyto.2005.08.029 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 16527612 | en_US |
dc.identifier.scopus | 2-s2.0-33644761901 | en_US |
dc.identifier.wos | WOS:000236193300011 | en_US |
dc.identifier.scopusquality | Q3 | - |
dc.owner | Pamukkale_University | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.languageiso639-1 | en | - |
item.openairetype | Article | - |
item.fulltext | No Fulltext | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
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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