Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

RNA sequencing and pathway analysis identify important pathways involved in hypertrichosis and intellectual disability in patients with Wiedemann-Steiner syndrome

ABSTRACT: RNAseq in Wiedemann Steiner syndrome

ORGANISM(S): Homo sapiens

PROVIDER: GSE115969 | GEO | 2018/06/19

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

RNA sequencing and pathway analysis identify important pathways involved in hypertrichosis and intellectual disability in patients with Wiedemann-Steiner syndrome

Project description:RNA sequencing and pathway analysis identify important pathways involved in hypertrichosis and intellectual disability in patients with Wiedemann-Steiner syndrome

| PRJNA476599 | ENA

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

Project description: Not available

| S-EPMC4823641 | biostudies-literature

Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

| PRJNA764786 | ENA

Co-occurrence of Beckwith–Wiedemann Syndrome and colorectal cancer in a young woman

Project description:Beckwith-Wiedemann Spectrum (BWSp) is a disorder predisposing to tumors of embryonic origin that arise during childhood. Little is known concerning the tumor risk and histotype prevalence in adult BWSp patients. However, several studies report cases of co-occurrence of BWSp and tumors in early adulthood, suggesting that the cancer risk in BWSp could be relevant also later than childhood. Here, we report for the first time a case of co-occurrence of BWSp and early-onset colorectal cancer (EO-CRC). The results disclosed genetic and epigenetic molecular lesions of the patient at both somatic and germline levels, providing support to the hypothesis that epigenetic changes contribute to cancer initiation in tissues where a genetic insult is already present, acting in a cooperative manner to stimulate tumorigenesis.

2023-04-01 | GSE224222 | GEO

Ceratitis capitata strain:Wiedemann

Project description:Ceratitis capitata strain:Wiedemann Raw sequence reads

| PRJNA556440 | ENA

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Project description:The use of assisted reproductive technologies (ART) can induce a congenital overgrowth condition in humans and ruminants, namely Beckwith-Wiedemann syndrome (BWS) and large offspring syndrome (LOS), respectively. Shared phenotypes and epigenotypes have been found between BWS and LOS. We have observed global misregulation of transcripts in bovine foetuses with LOS. microRNAs (miRNAs) are important post-transcriptional gene expression regulators. We hypothesize that there is miRNA misregulation in LOS and that this misregulation is shared with BWS. In this study, small RNA sequencing was conducted to investigate miRNA expression profiles in bovine and human samples. We detected 407 abundant known miRNAs and predicted 196 putative miRNAs from the bovine sequencing results and identified 505 abundant miRNAs in human tongue. Differentially expressed miRNAs (DE-miRNAs) were identified between control and LOS groups in all tissues analysed as well as between BWS and control human samples. DE-miRNAs were detected from several miRNA clusters including DLK1-DIO3 genomic imprinted cluster in LOS and BWS. DNA hypermethylation was associated with downregulation of miRNAs in the DLK1-DIO3. mRNA targets of the DE-miRNAs were predicted and signalling pathways associated with control of organ size (including the Hippo signalling pathway), cell proliferation, apoptosis, cell survival, cell cycle, and cell adhesion were found to be enriched with these genes. Yes associated protein 1 (YAP1) is the core effector of the Hippo signalling pathway, and increased level of active (non-phosphorylated) YAP1 protein was detected in skeletal muscle of LOS foetuses. Overall, our data provide evidence of miRNA misregulation in LOS and BWS.

2019-07-30 | GSE117015 | GEO

Whole-genome gene expression profiles of peripheral blood cells in an individual with Long QT syndrome and Beckwith-Wiedemann syndrome

Project description:We report RNAseq profiles of an individual carrying a maternally inherited splice variant in the first intron of the KCNQ1 gene and displaying complete loss of methylation at KCNQ1OT1:TSS DMR, the Imprinting Control Region of the centromeric domain of the Beckwith-Wiedemann locus. The half-sister was used as control. We show that the most 5’ 10 kb of KCNQ1 is about 2-3-fold more abundant than the rest of the gene in the proband, while RNA level was homogeneously distributed along the entire gene in the control. These results are consistent with data obtained from locus-specific analyses and overall suggest that premature termination of the KCNQ1 gene is occurring in cis with the splice variant and is associated with lack of methylation of the KCNQ1OT1:TSS DMR on the maternal chromosome.

2018-10-23 | GSE121578 | GEO

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Project description: Not available

| S-EPMC7713511 | biostudies-literature

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Project description:Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

| PRJNA526557 | ENA

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Project description:Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

| PRJNA526558 | ENA