Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

ChEBI2011-11-07 更新2026-07-21 收录

iPSC疾病模型

神经发育疾病

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-25542 数据链接链接失效反馈

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Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

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2011-11-07

A Drosophila Model of Pontocerebellar Hypoplasia Reveals a Critical Role for the RNA Exosome in Neurons. A Drosophila Model of Pontocerebellar Hypoplasia Reveals a Critical Role for the RNA Exosome in Neurons

神经发育疾病

RNA外切体

RNA-sequencing analysis reveals increased steady-state levels of key neuronal genes in Rrp40 mutant flies Overall design: Examination of Rrp40 missense mutantions modeled in Drosophila

NIAID Data Ecosystem100

Additional file 1 of Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations

神经发育疾病

转录组分析

Additional file 1: Figure S1. Immunocytochemistry (ICC) of NPCs used in the RNA-seq study (one set) showing Vimentin and Sox2 staining (A and B, respectively) with a nuclear stain (DAPI).

Figshare2024-02-14 更新70

Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in Neurodevelopmental Disorders

神经发育障碍基因

iPSC疾病模型

The cellular and molecular mechanisms underlying neurodevelopmental conditions such as autism spectrum disorders have been studied intensively for decades. The ability to generate patient-specific ind

NIAID Data Ecosystem50

Exome-sequencing of two UFM individuals and their Fragile X family members.

遗传学

神经发育疾病

Fragile X syndrome (FXS) is a monogenic neurodevelopmental disease often caused by a CGG triplet expansion in the 5’UTR of the FMR1 gene, which results in DNA methylation of the FMR1 promoter and its

NIAID Data Ecosystem70

Batten's Disease proteomics using iTRAQ LC-MS/MS

神经退行性疾病蛋白质

iPSC疾病模型

Proteomic analysis using iTRAQ technique to identify global changes in Batten's disease samples using iPSCs derived from keratinocytes and differentiated to iNPCs Three separate mass spectrometry runs

NIAID Data Ecosystem50

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

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