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Article

Activation of γ-globin expression by a common variant disrupting IKAROS-binding motif in β-thalassemia.

Journal of genetics and genomics = Yi chuan xue bao - 1 Feb 2025

Luo Hualei, Wang Jueheng, Qin Lang, Zhang Xinhua, Liu Hailiang, Niu Chao, Song Mengyang, Shao Congwen, Xu Peng, Yu Miao, Zhang Haokun, Ye Yuhua, Xu Xiangmin

Abstract excerpt

Programmed silencing of γ-globin genes in adult erythropoiesis is mediated by several chromatin remodeling complexes, which determine the stage-specific genome architecture in this region. Identification of cis- or trans-acting mutations contributing to the diverse extent of fetal hemoglobin (Hb F) might illustrate the underlying mechanism of γ-β-globin switching. Here, we recruit a cohort of 1142 β-thalassemia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39521044
DOI: 10.1016/j.jgg.2024.10.015

Genes

CD34

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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