无意义介导的mRNA衰变通过上变位蛋白1影响眼面心脏牙综合征中的过度活跃根形成

Ryoto Machida1, Takuya Ogawa1, Kyaw Min Soe1

  • 1Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8549, Japan.

PubMed
概括

在BCOR中引起眼面心脏牙 (OFCD) 综合征的突变会影响牙根的生长. UPF1蛋白与突变的BCOR结合,影响BCOR和BMP2基因表达,可能解释OFCD综合征的发展.

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