Article
Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate NKX2-5 in model zebrafish embryos.
The Journal of biological chemistry - 14 Aug 2020
Zhang Qinxin, Liang Dong, Yue Yunyun, He Luqingqing, Li Nan, Jiang Dongya, Hu Ping, Zhao Qingshun
Abstract excerpt
FOXC1 is a member of the forkhead family of transcription factors, and whose function is poorly understood. A variety of FOXC1 mutants have been identified in patients diagnosed with the autosomal dominant disease Axenfeld-Rieger syndrome, which is mainly characterized by abnormal development of the eyes, particularly those who also have accompanying congenital heart defects (CHD). However, the role of FOXC1 in...
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