硫氧化物9
单倍率不足
细胞外基质
转录因子
生物
纤维化
异位表达
癌症研究
细胞生物学
遗传学
医学
病理
表型
基因
作者
James Pritchett,Varinder Athwal,Neil Roberts,Neil A. Hanley,Karen Piper Hanley
标识
DOI:10.1016/j.molmed.2010.12.001
摘要
The transcription factor SOX9 is crucial for multiple aspects of development. Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder concordant with the expression profile of SOX9 during embryogenesis. The mechanistic understanding of development has revealed roles for SOX9 in regulating cartilage extracellular matrix (ECM) production and cell proliferation, among others. More recently, it transpires that SOX9 becomes expressed and induces destructive ECM components in organ fibrosis and related disorders. Although commonly absent from the parent cell type, SOX9 is expressed in a wide range of cancers, where it regulates cell proliferation. These data have potential diagnostic, prognostic and therapeutic relevance, suggesting that disease mechanisms might result from re-expressing this developmental transcription factor in ectopic locations.
科研通智能强力驱动
Strongly Powered by AbleSci AI