Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
作者信息
Mishra-Gorur Ketu, Barak Tanyeri, Kaulen Leon D, Henegariu Octavian, Jin Sheng Chih, Aguilera Stephanie Marie, Yalbir Ezgi, Goles Gizem, Nishimura Sayoko, Miyagishima Danielle, Djenoune Lydia, Altinok Selin, Rai Devendra K, Viviano Stephen, Prendergast Andrew, Zerillo Cynthia, Ozcan Kent, Baran Burcin, Sencar Leman, Goc Nukte, Yarman Yanki, Ercan-Encicek A Gulhan, Bilguvar Kaya, Lifton Richard P, Moliterno Jennifer, Louvi Angeliki, Yuan Shiaulou, Deniz Engin, Brueckner Martina, Gunel Murat
机构信息
Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06510.
Department of Genetics, Yale School of Medicine, New Haven, CT 06510.
出版信息
Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2319578121. doi: 10.1073/pnas.2319578121. Epub 2024 Mar 11.
Abstract
摘要
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本文引用的文献
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2
TRAF7 is an essential regulator of blood vessel integrity during mouse embryonic and neonatal development.TRAF7是小鼠胚胎和新生儿发育过程中血管完整性的重要调节因子。
iScience. 2023 Jul 25;26(8):107474. doi: 10.1016/j.isci.2023.107474. eCollection 2023 Aug 18.
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Novel mosaic TRAF7 likely pathogenic variant in an African American family.一个非洲裔美国家庭中新型 TRAF7 镶嵌性可能致病变异。
Am J Med Genet A. 2023 Jul;191(7):1990-1993. doi: 10.1002/ajmg.a.63214. Epub 2023 Apr 17.
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Modeling congenital heart disease: lessons from mice, hPSC-based models, and organoids.建模先天性心脏病：从老鼠、基于 hPSC 的模型和类器官中获得的经验教训。
Genes Dev. 2022 Jun 1;36(11-12):652-663. doi: 10.1101/gad.349678.122.
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