评估带有 NIPBL 致病变体的诱导多能干细胞的转录组后果和 MAU2 蛋白水平

{"title":"评估带有 NIPBL 致病变体的诱导多能干细胞的转录组后果和 MAU2 蛋白水平","authors":"Kévin Cassinari, Anne Rovelet-Lecrux, Céline Derambure, Myriam Vezain, Sophie Coutant, Anne-Claire Richard, Nathalie Drouot, Juliette Coursimault, Gabriella Vera, Alice Goldenberg, Pascale Saugier-Veber, Camille Charbonnier, Gaël Nicolas","doi":"10.1016/j.gendis.2024.101386","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"78 1","pages":""},"PeriodicalIF":6.9000,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants\",\"authors\":\"Kévin Cassinari, Anne Rovelet-Lecrux, Céline Derambure, Myriam Vezain, Sophie Coutant, Anne-Claire Richard, Nathalie Drouot, Juliette Coursimault, Gabriella Vera, Alice Goldenberg, Pascale Saugier-Veber, Camille Charbonnier, Gaël Nicolas\",\"doi\":\"10.1016/j.gendis.2024.101386\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":12689,\"journal\":{\"name\":\"Genes & Diseases\",\"volume\":\"78 1\",\"pages\":\"\"},\"PeriodicalIF\":6.9000,\"publicationDate\":\"2024-08-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genes & Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.gendis.2024.101386\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes & Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.gendis.2024.101386","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}