https://scholars.lib.ntu.edu.tw/handle/123456789/594723
標題: | RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients | 作者: | Huang Y.-H. Su T.-C. Wang C.-H. Wong S.-L. YIN-HSIU CHIEN Wang Y.-T. WUH-LIANG HWU NI-CHUNG LEE |
公開日期: | 2021 | 出版社: | Nature Research | 卷: | 8 | 期: | 1 | 起(迄)頁: | 265 | 來源出版物: | Scientific Data | 摘要: | Illumina RNA-seq analysis was used to characterize the whole transcriptomes of peripheral blood mononuclear cells (PBMCs) from patients with congenital generalized lipodystrophy. RNA-seq information for seven patients with type 2 congenital generalized lipodystrophy (CGL2; Berardinelli-Seip congenital lipodystrophy, BSCL2) was obtained and compared with similar information for seven age- and sex-matched healthy control subjects. All seven CGL2 patients carried biallelic pathogenic mutations affecting the BSCL2 gene and had clinical symptoms of varying severity. The findings provide the whole-transcriptome signatures of PBMCs of CGL2 patients, allowing further exploration of gene expression patterns/signatures associated with the various clinical symptoms of patients with this disease. ? 2021, The Author(s). |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85117388377&doi=10.1038%2fs41597-021-01040-4&partnerID=40&md5=7d2f0d861bf65ddb16d3e0547a201466 https://scholars.lib.ntu.edu.tw/handle/123456789/594723 |
ISSN: | 2052-4463 | DOI: | 10.1038/s41597-021-01040-4 | SDG/關鍵字: | transcriptome; adolescent; child; congenital generalized lipodystrophy; female; genetics; high throughput sequencing; human; male; mononuclear cell; preschool child; young adult; Adolescent; Child; Child, Preschool; Female; High-Throughput Nucleotide Sequencing; Humans; Leukocytes, Mononuclear; Lipodystrophy, Congenital Generalized; Male; RNA-Seq; Transcriptome; Young Adult |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。