دورية أكاديمية
Molecular genetic analyses in neurofibromatosis type 1 patients with tumors
| العنوان: | Molecular genetic analyses in neurofibromatosis type 1 patients with tumors |
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| المؤلفون: | Oguzkan, S., Terzi, Y.K., Cinbis, M., Anlar, B., Aysun, S., Ayter, S. |
| سنة النشر: | 2006 |
| المجموعة: | Pamukkale University Repository / Pamukkale Üniversitesi Açık Erişim Arşivi |
| مصطلحات موضوعية: | guanosine triphosphatase activating protein, gene product, neurofibromin, Ras protein, adolescent, adult, allele, article, astrocytoma, autosomal dominant disorder, pathogenesis, mutational analysis, neurofibroma, neurofibromatosis, optic nerve glioma, cancer risk, cell differentiation, cell proliferation, child, clinical article, exon, female, functional assessment, gene deletion, gene function, gene locus, gene mutation, genetic analysis, genetic variability, human |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0165-4608 |
| العلاقة: | Cancer Genetics and Cytogenetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1016/j.cancergencyto.2005.08.029Test; https://hdl.handle.net/11499/4653Test; 165; 167; 171; 2-s2.0-33644761901; WOS:000236193300011 |
| DOI: | 10.1016/j.cancergencyto.2005.08.029 |
| الإتاحة: | https://doi.org/10.1016/j.cancergencyto.2005.08.029Test https://hdl.handle.net/11499/4653Test |
| حقوق: | none |
| رقم الانضمام: | edsbas.BC18F6AC |
| قاعدة البيانات: | BASE |
| تدمد: | 01654608 |
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| DOI: | 10.1016/j.cancergencyto.2005.08.029 |