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Updated: May 8, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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一种常见的TBP结合部位突变通过竞争性全球蛋白切换改变β-thalassemia的γ-globin水平升高

Mengyang Song1, Xiaolei Wei2, Hualei Luo1

  • 1Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, Guangdong, China, Guangzhou, China.

Blood advances
|April 8, 2025
PubMed
概括

在beta-thalassemia患者中,一种特定的HBB基因突变 (c.-78A>G) 显著增加胎儿血红蛋白 (HbF) 水平. 这通过减少TBP与HBB TATA-Box的结合而发生,从而促进$\gamma$-globin基因表达.

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A Novel Saturation Mutagenesis Approach: Single Step Characterization of Regulatory Protein Binding Sites in RNA Using Phosphorothioates11:49

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General Transcription Factors

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