Summary data: R117H and WT subjects, top 12 glands; loss-corrected.

Figshare2017-04-19 更新2026-04-29 收录

数据链接：

https://figshare.com/articles/dataset/Summary_data_R117H_and_WT_subjects_top_12_glands_loss-corrected_/4885910 数据链接链接失效反馈

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Summary data: R117H and WT subjects, top 12 glands; loss-corrected.

创建时间：

2017-04-19

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

遗传病机制

Wnt信号通路

Main purpose of the project is to investigate the consequences of de novo CSNK2B variant on transcriptome profiling of the patient compared to control. In this data, we seen differential expression of

NIAID Data Ecosystem90

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication. Homo sapiens

基因组结构变异

遗传病机制

Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex DUP-TRP/INV-DUP rearrangements that contain breakpoint junctions within IRs have been recently

NIAID Data Ecosystem60

BubR1 allelic effects drive phenotypic heterogeneity in MVA progeria syndrome [3 month old RNA-seq]

遗传病机制

RNA测序分析

Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations, increased chromosome missegregation, and a broad spectrum of cl

NIAID Data Ecosystem40

Additional file 7: Table S3. of Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

遗传病机制

干细胞模型基因表达分析

Table of positively enriched gene sets. (XLSB 188Â kb)

Figshare2016-12-15 更新80

Mapping cis-regulatory elements in human excitatory and inhibitory neurons links psychiatric disease heritability and activity-regulated transcriptional programs [ATAC-seq]

神经元表观遗传学

遗传病机制

Genome-wide association studies (GWAS) have identified hundreds of loci associated with psychiatric diseases, yet there is a lack of understanding of disease pathophysiology. Common risk variants can

NIAID Data Ecosystem60

Summary data: R117H and WT subjects, top 12 glands; loss-corrected.

资源简介：

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