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题目:: Transcription profiling of human congenital disorders of Glycosylation type-1 patients (CDG-I)
ID:
状态:: 发布时间Oct. 18, 2008 , 更新时间 May 2, 2014 , 提交时间 July 11, 2007,
物种:: Homo sapiens
摘要:: Disruption of N-linked glycosylation has a broad impact on proper glycosylation of nascent glycoproteins in the endoplasmic reticulum, which affect multiple signalling pathways( by changing the stability of membrane proteins or the signalling ability of membrane receptors) and may be responsible of the fibrotic stage associated to CDG type-I. We used microarrays to characterize the global changes in gene expression in three distinct groups of CDG-I patients and we identified a common perturbation in the expression of genes encoding for proteins involved in the stress as well as in the fibrotic responses. Experiment Overall Design: Primary fibroblasts, obtained from forearm skin biopsies of healthy control subjects and three distinct groups of CDG-I patients, were cultured in F12 DMEM supplemented with 4.5 g/l glucose and 10% fetal calf serum prior to RNA extraction and Hybridization on human HG 133 A Affymetrix Microarrays. To avoid bias related to the analysis of a specific CDG-I type or to a specific individual expression pattern, we have considered three patients for the CDG-Ic and -Ie group and two patients for the CDG-Ig group. Moreover the total RNA was extracted from three different independent biological replicates.
实验种类:: transcription profiling by array
样本量:: 36
实验设计:
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数据号:: E-GEOD-8440, GSE8440
数据状态:: 无法自动分析，您可以尝试手动分析数据。

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