Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Whole blood DNA methylation arrays of individuals with Sotos syndrome and healthy control subjects

ABSTRACT: Whole blood DNA methylation arrays of individuals with Sotos syndrome and healthy control subjects

PROVIDER: PRJNA790839 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Sotos syndrome and healthy control subjects

Project description:Sotos syndrome and healthy control subjects

| PRJNA790836 | ENA

Whole blood RNA-Seq of individuals with Sotos syndrome and healthy control subjects

Project description:To understand how NSD1 inactivation deregulates transcription, and to explore how this transcriptional deregulation affect human development, we profiled transcription in Sotos syndrome patients and healthy control individuals.

2022-03-01 | GSE191274 | GEO

Whole blood RNA-Seq of individuals with Sotos syndrome and healthy control subjects

Project description:Whole blood RNA-Seq of individuals with Sotos syndrome and healthy control subjects

| PRJNA790828 | ENA

Whole blood DNA methylation arrays of individuals with Sotos syndrome and healthy control subjects

Project description:To understand how NSD1 inactivation deregulates DNA methylation, and to explore how these abnormalities affect human development, we profiled DNA methylation in SS patients and healthy control individuals using the Illumina Infinium EPIC Beadchip array.

2022-03-01 | GSE191276 | GEO

Expression data from Sotos syndrome patients and controls

Project description:Genome-wide expression studies were performed on dermal fibroblasts from Sotos syndrome patients with a confirmed NSD1 abnormality and compared with age-sex matched controls. We used microarrays to detect differentially expressed genes in Sotos syndrome patients and performed a global test with the aim to map NSD1 within a signaling transduction pathway. Dermal fibroblasts were obtained from nine Sotos syndrome patients and nine controls. Since NSD1 is a co-factor of the retinoic acid receptor, cultures were performed both in the presence and absence of retinoic acid.

2014-02-06 | E-GEOD-27200 | biostudies-arrayexpress

Whole blood DNA methylation arrays of individuals with psoriatic arthritis, psoriasis vulgaris, and healthy control subjects

Project description:Whole blood DNA methylation arrays of individuals with psoriatic arthritis, psoriasis vulgaris, and healthy control subjects

| PRJNA824404 | ENA

Sotos syndrome and healthy control subjects

Project description:This SuperSeries is composed of the SubSeries listed below.

2022-03-01 | GSE191277 | GEO

Expression data from Sotos syndrome patients and controls

2014-02-06 | GSE27200 | GEO

Chromatin regulation of transcriptional enhancers and cell fate by the Sotos syndrome gene NSD1 [RRBS]

Project description:Nuclear-receptor-binding SET-domain protein 1 (NSD1), a methyltransferase that catalyzes H3K36me2, is essential for mammalian development and frequently dysregulated in diseases, including Sotos syndrome. Despite impacts of H3K36me2 on H3K27me3 and DNA methylation, a direct role of NSD1 in transcriptional regulation remains largely unknown. Here, we show that NSD1 and H3K36me2 are enriched at cis-regulatory elements, particularly enhancers. NSD1 enhancer association is conferred by a tandem quadruple PHD-PWWP module, which recognizes p300-catalyzed H3K18ac. By combining acute NSD1 depletion with time-resolved epigenomic and nascent transcriptomic analyses, we demonstrate that NSD1 promotes enhancer-dependent gene transcription by facilitating RNA polymerase II pause release. Notably, NSD1 can act as a transcriptional coactivator independent of its catalytic activity. Moreover, NSD1 enables activation of developmental transcriptional programs associated with Sotos syndrome pathophysiology and controls ESC multilineage differentiation. Collectively, we have identified NSD1 as an enhancer-acting transcriptional coactivator that contributes to cell fate transition and Sotos syndrome development.

2023-07-05 | GSE236028 | GEO