Data sources which record neurodevelopmental disorders.
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Data sources which record neurodevelopmental disorders.
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2022-10-14
相关数据集
Supplementary Material for: MeCP2 270 Mutant Protein Is Expressed in Astrocytes as well as in Neurons and Localizes in the Nucleus
The MECP2 gene, located at Xq28, encodes methyl-CpG-binding protein 2 (MeCP2), which is frequently mutated (up to 90%) in Rett syndrome (RTT). RTT is a progressive neurodevelopmental disorder,
DataCite Commons2020-09-02 更新270
An Analysis of the Correlation Between Poor Short-Term Memory and Behavior in Children and Adolescents with Prader Willi Syndrome, 1996
The purpose of the “An Analysis of the Correlation Between Poor Short-term Memory and Behavior in Children and Adolescents with Prader Willi Syndrome, 1996” was to investigate whether there were any c
DataCite Commons2023-02-28 更新50
Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice [CD90.2+ T cells, RNA-seq]
Many Mendelian developmental disorders caused by coding variants in epigenetic regulators have now been discovered. Epigenetic regulators are broadly expressed, and each of these disorders typically e
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Reduced CYFIP1 in human neural progenitors as 15q11.2 deletion model: donor specific dysregulation of schizophrenia/epilepsy genes
Deletions at 15q11.2 have been established to increase risk for multiple neurodevelopmental disorders (NDDs) including schizophrenia and epilepsy, yet show variable expressivity between individuals. T
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NSD1 deposits Histone H3 lysine 36 dimethylation to pattern non-CG DNA methylation in neurons [WGBS in vivo]
During postnatal development the DNA methyltransferase DNMT3A deposits high levels of nonCG cytosine methylation in neurons. This unique methylation is critical for transcriptional regulation in the m
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