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Rett 综合征大脑颞叶和扣带回皮质的转录组数据。

Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain.

机构信息

Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

出版信息

Sci Data. 2020 Jun 19;7(1):192. doi: 10.1038/s41597-020-0527-2.

DOI:10.1038/s41597-020-0527-2
PMID:32561870
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7305197/
Abstract

Rett syndrome is an X-linked neurodevelopmental disorder caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2) in the majority of cases. We describe an RNA sequencing dataset of postmortem brain tissue samples from four females clinically diagnosed with Rett syndrome and four age-matched female donors. The dataset contains 16 transcriptomes, including two brain regions, temporal and cingulate cortex, for each individual. We compared our dataset with published transcriptomic analyses of postmortem brain tissue from Rett syndrome and found consistent gene expression alterations among regions of the cerebral cortex. Our data provide a valuable resource to explore the biology of the human brain in Rett syndrome.

摘要

雷特综合征是一种 X 连锁神经发育障碍,大多数病例是由甲基化CpG 结合蛋白 2 基因(MECP2)突变引起的。我们描述了一个来自四个临床诊断为雷特综合征的女性和四个年龄匹配的女性供体的死后脑组织样本的 RNA 测序数据集。该数据集包含 16 个转录组,每个个体包括两个脑区,颞叶和扣带回皮质。我们将我们的数据集与已发表的雷特综合征死后脑组织的转录组分析进行了比较,发现大脑皮质的不同区域存在一致的基因表达改变。我们的数据为探索雷特综合征患者大脑的生物学特性提供了有价值的资源。

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Mol Genet Genomic Med. 2019 Nov;7(11):e968. doi: 10.1002/mgg3.968. Epub 2019 Sep 11.
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Total RNA Sequencing of Rett Syndrome Autopsy Samples Identifies the M Muscarinic Receptor as a Novel Therapeutic Target.Rett 综合征尸检样本的全转录组测序鉴定出 M 毒蕈碱受体为一个新的治疗靶点。
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Salmon provides fast and bias-aware quantification of transcript expression.
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Neuropsychopharmacology. 2024 Aug;49(9):1392-1401. doi: 10.1038/s41386-024-01835-0. Epub 2024 Mar 5.
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Variable expression of and in the human brain: Implications for gene restorative therapies.在人脑内可变表达的 和 :对基因修复治疗的启示。
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