{"title":"Cover Image, Volume 190, Number 1, March 2022","authors":"","doi":"10.1002/ajmg.c.31929","DOIUrl":null,"url":null,"abstract":"<p>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.\n\n <figure>\n <div><picture>\n <source></source></picture><p></p>\n </div>\n </figure></p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"190 4","pages":"i"},"PeriodicalIF":2.8000,"publicationDate":"2023-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31929","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31929","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.