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Immunotyping of clinically divergent p.Phe508del homozygous monozygous cystic fibrosis twins
Journal of Cystic Fibrosis ( IF 5.2 ) Pub Date : 2021-01-01 , DOI: 10.1016/j.jcf.2020.06.009
Esther Schamschula 1 , Wolfgang Hagmann 2 , Yassen Assenov 2 , Silke Hedtfeld 3 , Ahmed K Farag 4 , Lennart M Roesner 4 , Lutz Wiehlmann 5 , Frauke Stanke 6 , Sebastian Fischer 3 , Angela Risch 7 , Burkhard Tümmler 6
Affiliation  

Blood of the three clinically most concordant and most discordant p.Phe508del homozygous monozygous twin pairs of the European Cystic Fibrosis Twin and Sibling Study was examined in two postzygotic attributes that generate diversity between monozygous twins, i.e. the repertoire of the CDR3 region of the T-cell receptor ß chains and the DNA methylation at 450,000 genomic CpG sites. Methylation patterns in peripheral blood of twins changed at selected cell-type-independent positions and the immune cells of the twins showed individual profiles of the T cell receptor repertoire reflecting the plasticity of the immune system of genetically identical humans with cystic fibrosis to cope with the environment.

中文翻译:

临床上不同的 p.Phe508del 纯合单合囊性纤维化双胞胎的免疫分型

欧洲囊性纤维化双胞胎和同胞研究的三个临床上最一致和最不一致的 p.Phe508del 纯合单卵双胞胎的血液在两个产生单卵双胞胎之间多样性的后合子属性中进行了检查,即 T-的 CDR3 区域的所有组成部分细胞受体 ß 链和 450,000 个基因组 CpG 位点的 DNA 甲基化。双胞胎外周血中的甲基化模式在选定的细胞类型独立位置发生变化,双胞胎的免疫细胞显示出 T 细胞受体库的个体特征,反映了遗传相同的囊性纤维化人类免疫系统的可塑性,以应对环境。
更新日期:2021-01-01
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