相关实验视频
Updated: May 5, 2026

09:58
A Method for Labeling Vasculature in Embryonic Mice
Published on: October 7, 2011
15.4K
血管形发生是由受体氨酸激酶TIE2的激活突变引起的
M Vikkula1, L M Boon, K L Carraway
1Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
Cell
|December 27, 1996
概括
在TIE2的基因突变导致遗传性静脉形 (VMs). 这一发现突出了TIE2信号通路的存在.
科学领域:
- 血管生物学 血管生物学
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 静脉形 (VMs) 是常见的血管发育错误.
- 虚拟机具有扩张的通道与不一致的光滑肌肉.
- 遗传VMs的遗传基础尚未完全理解.
研究的目的:
- 在两个家族中确定遗传VMs的遗传原因.
- 研究TIE2信号通路在静脉形态发生过程中的作用.
主要方法:
- 在受影响家庭中对TIE2基因突变的分离分析.
- 昆虫细胞中的蛋白质表达,以评估TIE2激酶活性.
- 鉴定TIE2突变的功能分析.
主要成果:
- 在TIE2激酶域 (R849W) 中的一种特定的误解突变与遗传VM分离.
- R849W突变导致了TIE2活动的增加.
- 这种激活突变在两个不相关的家族中被确定.
结论:
- 在TIE2的激活突变导致遗传性静脉形.
- TIE2信号通路对于正常的静脉发育至关重要.
- 了解这种途径可能会导致新的VM疗法.
相关概念视频
Enzyme-linked Receptors
64.6K
Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
64.6K
Notch Signaling Pathway
4.6K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.6K
mTOR Signaling and Cancer Progression
3.6K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.6K
Mechanism of Angiogenesis
6.4K
Blood vessel formation starts early during embryonic development, around day 7. In the extraembryonic yolk sac, mesodermal precursor cells called hemangioblast proliferate and differentiate into angioblast. Angioblasts express vascular endothelial growth factor receptor 2 or VEGFR2, which binds VEGF-A, a proangiogenic factor, guiding blood vessel formation. VEGF signaling promotes angioblasts to form a blood island in the developing embryo. Angioblasts further differentiate, giving rise to...
6.4K
Regulation of Angiogenesis and Blood Supply
2.9K
Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits. Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl...
2.9K
Receptor Tyrosine Kinases
15.5K
Receptor tyrosine kinases or RTKs are membrane-bound receptors that phosphorylate specific tyrosine on protein substrates. RTKs regulate cellular growth, differentiation, survival, and migration. They contain an extracellular ligand binding domain, a transmembrane domain, and a cytosolic tail with intrinsic kinase activity. Several extracellular signaling molecules activate RTKs in one or more ways and relay the signal downstream. Ligands such as platelet-derived growth factor (PDGF) or...
15.5K

