IR@PKUHSC  > 北京大学第三临床医学院  > 病理科
学科主题临床医学
Classification and Tie2 mutations in spinal and soft tissue vascular anomalies
Zhou, Mei1; Jiang, Renbing2; Zhao, Gang3; Wang, Lisha4,5; Wang, Hua6; Li, Wenting1; Li, Yiqun1; Du, Xiang4,5; Bai, Jingping2
关键词Mutation Tie2 Hemangioma Vascular Malformation Spinal
刊名GENE
2015-10-15
DOI10.1016/j.gene.2015.06.048
571期:1页:91-96
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Genetics & Heredity
关键词[WOS]VERTEBRAL HEMANGIOMAS ; VENOUS MALFORMATIONS ; SOMATIC MUTATIONS ; ANGIOPOIETIN-1 ; DIAGNOSIS ; TERMINOLOGY ; TUMORS ; GENE
英文摘要

Vascular anomalies included hemangiomas and vascular malformations (VMs). VMs are mediated by mutations in the endothelial cell-specific receptor tyrosine kinase Tie2 (TEK),which is essential for angiogenesis and vascular stabilization. We identified five types of Tie2 mutations in 80 patients with soft tissue or spinal VMs by PCR including the previously detected missense mutations 2690A > G (Y897C), 2740C > T (L914F), 2743C > T (R915C), and two nonsense mutations 2763G > A, 2688C > T, we identified Tie2 mutation in primary spinal VMs for the first time. Tie2 mutations were found to be absent in 33 patients with hemangiomas and DNA samples of VMs. In addition, we showed that Tie2 mRNA expression in spinal VMs was similar to soft tissue VMs, but obviously lower than infant hemangiomas (P< 0.01). This study provides new insights into spinal VMs, the association of Tie2 and vascular anomalies needs to be further discussed. (C) 2015 Published by Elsevier B.V.

语种英语
所属项目编号81360282
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000360420500013
Citation statistics
Cited Times:2[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50957
Collection北京大学第三临床医学院_病理科
作者单位1.Xinjiang Med Univ, Tumor Hosp, Dept Pathol, Urumqi 830000, Peoples R China
2.Xinjiang Med Univ, Tumor Hosp, Dept Bone, Urumqi 830000, Peoples R China
3.Xinjiang Med Univ, Tradit Chinese Med Hosp, Dept Ultrasonog, Urumqi 830000, Peoples R China
4.Fudan Univ, Shanghai Canc Ctr, Dept Pathol, Shanghai 200032, Peoples R China
5.Fudan Univ, Shanghai Med Coll, Dept Oncol, Shanghai 200032, Peoples R China
6.Peking Univ, Hosp 3, Dept Pathol, Beijing 100871, Peoples R China
Recommended Citation
GB/T 7714
Zhou, Mei,Jiang, Renbing,Zhao, Gang,et al. Classification and Tie2 mutations in spinal and soft tissue vascular anomalies[J]. GENE,2015,571(1):91-96.
APA Zhou, Mei.,Jiang, Renbing.,Zhao, Gang.,Wang, Lisha.,Wang, Hua.,...&Bai, Jingping.(2015).Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.GENE,571(1),91-96.
MLA Zhou, Mei,et al."Classification and Tie2 mutations in spinal and soft tissue vascular anomalies".GENE 571.1(2015):91-96.
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