Role of Mutation and Pharmacologic Block of Human KCNH2 in Vasculogenesis and Fetal Mortality: Partial Rescue by Transforming Growth Factor-β

BACKGROUND—N629D KCNH2 is a human missense long-QT2 mutation. Previously, we reported that the N629D/N629D mutation embryos disrupted cardiac looping, right ventricle development, and ablated IKr activity at E9.5. The present study evaluates the role of KCNH2 in vasculogenesis. METHODS AND RESULTS—N...

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Veröffentlicht in:	Circulation. Arrhythmia and electrophysiology 2015-04, Vol.8 (2), p.420-428
Hauptverfasser:	Teng, Guoqi, Zhao, Xiang, Lees-Miller, James P, Belke, Darrell, Shi, Chunhua, Chen, Yongxiang, O’Brien, Edward R, Fedak, Paul W, Bracey, Nathan, Cross, James C, Duff, Henry J
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Drug-Induced - embryology Abnormalities, Drug-Induced - genetics Abnormalities, Drug-Induced - metabolism Abnormalities, Drug-Induced - prevention & control Animals Cells, Cultured Embryo Culture Techniques Embryonic Stem Cells - drug effects Embryonic Stem Cells - metabolism ERG1 Potassium Channel Ether-A-Go-Go Potassium Channels - antagonists & inhibitors Ether-A-Go-Go Potassium Channels - genetics Ether-A-Go-Go Potassium Channels - metabolism Fetal Death Gene Expression Regulation, Developmental Genotype Heart Defects, Congenital - chemically induced Heart Defects, Congenital - embryology Heart Defects, Congenital - genetics Heart Defects, Congenital - metabolism Heart Defects, Congenital - prevention & control Humans Mice, 129 Strain Mice, Transgenic Morphogenesis - drug effects Mutation, Missense Neovascularization, Physiologic - drug effects Phenethylamines - toxicity Phenotype Potassium Channel Blockers - toxicity Signal Transduction Sulfonamides - toxicity Transforming Growth Factor beta - pharmacology Vascular Malformations - chemically induced Vascular Malformations - embryology Vascular Malformations - genetics Vascular Malformations - metabolism Vascular Malformations - prevention & control
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