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Updated: Jun 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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单胞胎三胞胎具有青春期开始的自身免疫和18p微删除,涉及PTPRM

Morten Krogh Herlin1, Jens Magnus Bernth Jensen2,3, Lotte Andreasen1

  • 1Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

Frontiers in genetics
|October 3, 2024
PubMed
概括

基因剂量异常,如18p删除综合征,可以增加自身免疫性疾病的风险. 这项研究将PTPRM基因半复合性与增加的STAT3激活和Th17细胞水平联系起来,这表明18p删除中的自身免疫机制.

关键词:
18p删除删除的方法这是一个PTPRM.转录因子STAT3的转录因子在Th17细胞中.这是自身免疫力.细胞遗传学 细胞遗传学

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