BMP I 型受体 ACVR1 是早期发育中趾和关节形成的关键调节因子。 ACVR1 中的 R206H 突变引起的 BMP 信号失调,是人类遗传疾病 FOP 中的一种常见突变,其结果抑制了小鼠多个趾关节的发育,并且发育中的生长板会诱导异常的软骨内骨化。 ACVR1-R206H异常调节了BMP通路信号的时空限制、关节内部空间的形成和Gdf5表达细...
ACVR1BMP信号通路骨重塑BMSCssRANKL目的:下颌骨具有独特的生理结构和重要的生理功能.BMP信号通路通过调控成骨细胞和破骨细胞的分化,维持骨稳态.ACVR1作为I型BMP受体介导BMP信号通路调控骨重塑,而ACVR1基因的点突变导致配体非依赖性ACVR1持续性激活,与进行性骨化性纤维结构不良密切相关,表明ACVR1在生理和病理性骨重塑...
研究表明,在间充质细胞细胞中条件性敲除Acvr1,则小鼠成牙本质细胞在形成牙本质的过程中难以维持其极性。本实验旨在研究I型BMP受体ACVR1在成牙本质细胞极性维持中的作用。材料与方法:通过Cre-loxP系统构建条件性基因敲除的C57小鼠,对照组为(Acvr1f...
We therefore assessed the role of BMP Type I receptor AcvR1 in anterior second heart field-derived cell development, and compared it with that of BmpR1a. By removing Acvr1 using the driver Mef2c[AHF]-Cre, we show that AcvR1 plays an essential role in arterial pole morphogenesis, ...
(great toe malformations and progressive heterotopic ossification) have previously been found to carry the same heterozygous mutation (c.617G>A; p.R206H) in the GS activation domain of activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I...
We identify ACVR1 as a target of miR-130a and demonstrate that through regulating ACVR1, it regulates BMP/SMAD1 signaling pathway and acts as a tumor suppressor in cSCC. Our results showing that miR-130a is suppressed in cSCC but not in precancerous skin lesions suggested that it may be ...
BMP‐ACVR1 Axis is Critical for Efficacy of PRC2 Inhibitors in B‐Cell Lymphomadoi:10.1002/advs.202306499Liu, DongdongLi, ZhenTan, DongxiaAn, YangChu, LipingChen, TianchengLi, WeijiaZhou, AilinXiang, RuijieZhang, LiyeAdvanced Science
We previously found that lenses lacking theAcvr1gene, which encodes a bone morphogenetic protein (BMP) receptor, had abnormal proliferation and cell death in epithelial and cortical fiber cells. We tested whether the tumor suppressor protein p53 (encoded byTrp53) affected this phenotype.Acvr1conditio...
We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined. Protein modeling predicts destabilization of the...
Alk2/ACVR1 and Alk3/BMPR1A provide essential function for bone morphogenetic protein-induced retinal angiogenesis. Arterioscler Thromb Vasc Biol. 2017;37:657-663. doi: 10.1161/ATVBAHA.116.308422.Lee, H.W.; Chong, D.C.; Ola, R.; Dunworth, W.P.; Meadows, S.; Ka, J.; Kaartinen, V...