EGAS00001004323-sc-2023-09-20T15:33:33Z - samples
收藏NIAID Data Ecosystem2026-05-01 收录
下载链接：
https://www.omicsdi.org/dataset/ega/EGAD00001011646
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资源简介：
Embryogenesis is a vulnerable time. Mutations in developmental cells can result in the seeding of cells predisposed to disease within mature organs, creating a field effect. We characterise an embryonic cancer mutation that drives multifocal, multiphenotypic renal tumours in a 14-year-old girl. Their shared MTOR mutation, absent from normal tissues, increases protein flexibility which enables a FAT domain hinge to dramatically increase mTORC1 activity. Developmental mutations, not usually detected in traditional genetic screening, have vital clinical importance in guiding prognosis, targeted treatment, and family screening decisions for paediatric tumours.EGA dataset EGAD00001011646
创建时间：
2023-10-11
