封面图片,第190卷,第1期,2022年3月

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
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引用次数: 0

摘要

封面图片:RASopathy基因及其编码蛋白在RAS-MAPK信号级联中的作用。卡通列出了与RASopathies有关的基因和它们被发现的年份。在rasopathy的背景下,需要进一步临床描述和/或功能验证的基因用红色表示。还报道了与这些发现有关的里程碑。D和R分别表示显性和隐性。在基因发现时间轴图的下方,展示了RAS-MAPK信号级联(黑色箭头),以及控制该级联的正(蓝色)和负(红色)蛋白。P和Ub分别表示磷酸化和泛素化。有关进一步的解释,请参见图1 Tartaglia等人的论文图例(本期)。图片还显示了一些受RASopathies影响的个体的图片。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Cover Image, Volume 190, Number 1, March 2022

Cover Image, Volume 190, Number 1, March 2022

Cover image: RASopathy genes and the role of their encoded proteins in the RAS-MAPK signaling cascades. Cartoon lists the genes implicated in RASopathies and their year of discovery. Genes requiring further clinical delineation and/or functional validation in the context of the RASopathies are shown in red. Milestones linked to these discoveries are also reported. D and R indicate dominant and recessive, respectively. Below the figure of gene discovery timeline, the RAS-MAPK signaling cascade showing the signal flow through the pathway (black arrows), together with the proteins positively (blue) and negatively (red) controlling the cascade, is presented. P and Ub indicate phosphorylation and ubiquitination, respectively. For further explanations see Figure 1 legend from paper by Tartaglia et al. (present issue). Image also shows pictures of some individuals affected by RASopathies.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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