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Arid1a regulates neural stem/progenitor cell proliferation and differentiation during cortical development
Cell Proliferation ( IF 5.9 ) Pub Date : 2021-09-25 , DOI: 10.1111/cpr.13124
Xiao Liu 1, 2, 3, 4 , Shang‐Kun Dai 1, 2, 3, 4 , Pei‐Pei Liu 1, 3, 4 , Chang‐Mei Liu 1, 2, 3, 4
Affiliation  

Neurodevelopmental diseases are common disorders caused by the disruption of essential neurodevelopmental processes. Recent human exome sequencing and genome-wide association studies have shown that mutations in the subunits of the SWI/SNF (BAF) complex are risk factors for neurodevelopmental diseases. Clinical studies have found that ARID1A (BAF250a) is the most frequently mutated SWI/SNF gene and its mutations lead to mental retardation and microcephaly. However, the function of ARID1A in brain development and its underlying mechanisms still remain elusive.

中文翻译:

Arid1a 在皮质发育过程中调节神经干/祖细胞增殖和分化

神经发育疾病是由基本神经发育过程中断引起的常见疾病。最近的人类外显子组测序和全基因组关联研究表明,SWI/SNF (BAF) 复合体亚基的突变是神经发育疾病的危险因素。临床研究发现,ARID1A(BAF250a)是最常发生突变的SWI/SNF基因,其突变导致智力低下和小头畸形。然而,ARID1A 在大脑发育中的功能及其潜在机制仍然难以捉摸。
更新日期:2021-11-03
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