Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.
作者信息
Andelfinger Gregor, Marquis Christopher, Raboisson Marie-Josée, Théoret Yves, Waldmüller Stephan, Wiegand Gesa, Gelb Bruce D, Zenker Martin, Delrue Marie-Ange, Hofbeck Michael
出版信息
J Am Coll Cardiol. 2019 May 7;73(17):2237-2239. doi: 10.1016/j.jacc.2019.01.066.
Abstract
摘要
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本文引用的文献
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K-RasV14I recapitulates Noonan syndrome in mice.K-RasV14I在小鼠中重现了努南综合征。
Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16395-400. doi: 10.1073/pnas.1418126111. Epub 2014 Oct 30.
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Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.努南综合征合并肥厚型心肌病患儿的结局：来自儿科心肌病登记处的研究。
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MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.MEK-ERK 通路调节改善了伴有 Raf1(L613V)突变的诺南综合征小鼠模型的疾病表型。
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Age-specific reference intervals for indexed left ventricular mass in children.儿童左心室质量指数的年龄特异性参考区间
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