دورية أكاديمية
Mutations increased overexpression of Notch1 in T-cell acute lymphoblastic leukemia
العنوان: | Mutations increased overexpression of Notch1 in T-cell acute lymphoblastic leukemia |
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المؤلفون: | Lin Chunlan, Zheng Haitao, Wang Chunyan, Yang Lijian, Chen Shaohua, Li Bo, Zhou Yubing, Tan Huo, Li Yangqiu |
المصدر: | Cancer Cell International, Vol 12, Iss 1, p 13 (2012) |
بيانات النشر: | BMC, 2012. |
سنة النشر: | 2012 |
المجموعة: | LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens LCC:Cytology |
مصطلحات موضوعية: | Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671 |
الوصف: | Abstract Background The Notch signaling pathway is crucial in T-cell development, Notch1 mutations are frequently present in T-cell acute lymphoblastic leukemia (T-ALL). To investigate the feature of Notch1 mutation and its corresponding expression level in Chinese patients with T-ALL, detection of mutation and the expression level of Notch1 gene was preformed using RT-PCR, sequencing and real-time PCR respectively. Results Two Notch1 point mutations (V1578E and L1593P) located on HD-N domain were identified in three cases out of 13 T-ALL patients. The mutation on 4733 position (V1578E) found in two cases was a novel mutation. The overexpression of Notch1 was detected in all samples with T-ALL, moreover, significantly higher expression of Notch1 was detected in the T-ALL with Notch1 mutation group compared with T-ALL with WT Notch1 group (p = 0.0192). Conclusions Higher expression of Notch1 was associated with Notch1 mutation, more novel mutation of this gene might be identified in different populations and its contribution to the molecular pathogenesis of T-ALL is needed further research. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 1475-2867 |
Relation: | http://www.cancerci.com/content/12/1/13; https://doaj.org/toc/1475-2867 |
DOI: | 10.1186/1475-2867-12-13 |
URL الوصول: | https://doaj.org/article/e2ec05d1c5bb47e68c0ba40eb972612f |
رقم الأكسشن: | edsdoj.2ec05d1c5bb47e68c0ba40eb972612f |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 14752867 |
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DOI: | 10.1186/1475-2867-12-13 |