Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1149778 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Here we aimed to contribute to the description of the genetic architecture of Congenital heart defect (CHD) in Down syndrome (DS), and report the results of a genome-wide association study using samples from DS individuals with and without CHD. CHD is a common developmental defect of DS occurring in 40% of cases. This case-control GWAS includes 187 DS with CHD as cases, and 151 DS without CHD as controls.
| EGAS00000000129 | EGA
Project description:Congenital heart defects (CHDs) are very frequent in children with Down syndrome (DS), the genetic condition caused by trisomy of chromosome 21 (T21). However, the mechanisms by which T21 causes susceptibility to CHDs are poorly understood. Here, using a combination of human induced pluripotent stem cell (iPSC)-based model and Dp(16)1Yey/+ (Dp16) a mouse model of DS, we identified downregulation of canonical Wnt signaling that is caused by increased dosage of interferon (IFN) receptors encoded on chromosome 21 (HSA21) as a causative factor of CHDs in DS. We differentiated human iPSCs derived from individuals with DS as well as CHDs (DS/CHD iPSCs), and controls (control iPSCs) into cardiac cells. We observed that T21 upregulates IFN signaling, downregulates the canonical WNT pathway, and impairs cardiac differentiation. Furthermore, genetic and pharmacological normalization of IFN pathways restored canonical WNT signaling and rescued defects during cardiac differentiation of DS/CHD iPSCs. Strikingly, treatment with an inhibitor of Janus kinase, which is activated by IFN receptor engagement normalized the canonical Wnt pathway and ameliorated CHDs in Dp16 embryos. Our findings provide new mechanisms underlying CHDs in DS, ultimately aiding the development of novel therapeutic strategies.
2023-06-28 | GSE217557 | GEO
Project description:Whole exome sequencing of cancer tissues and proteomic data of cancer, CTD-EV, urine EV
2026-03-10 | PXD061615 | JPOST Repository
Project description:Through whole-exome sequencing of 800 patients with asthenozoospermia, we identified biallelic TEX44 variants in six individuals, all of whom exhibited defective mitochondrial sheath assembly and impaired sperm motility. Using Tex44 knockout mice, we demonstrated that TEX44 interacts with carnitine palmitoyltransferase 1B (CPT1B) to form a mitochondrial glue, anchoring adjacent mitochondria and facilitating the assembly of the sperm-specific mitochondrial sheath.
2025-02-20 | PXD060989 |
Project description:Purpose: There are three goals of this study: 1. To compare the genomic, exome and chromatin accessiblity profiles of the specific engineered fallopian tube cells of high-grade serous tubo-ovarian cancer (HGSC) models (this study) using whole-exome, whole-genome and ATAC-seq sequencing. Methods: For whole-exome analysis, genomic DNA was extracted from the cell lines mentioned below. Conclusions: We conclude that whole-exome, whole-genome and ATAC-seq characterization would expedite genetic network analyses and permit the dissection of complex biological functions.
2020-11-17 | GSE159253 | GEO
Project description:FCHL is a common, complex genetic lipid disorder with a largely unknown aetiology. Altered adipose tissue metabolism has been implicated as contributing to FCHL. We used microarrays to investigate the mRNA profiles of FCHL patients with CHD and non-FCHL patients with CHD in comparison with non-FCHL, non-CHD patients to define a core set of genes that were differentially expressed in FCHL and to provide a reasonable launch-pad for examining the direct contribution of one of this gene set to the development of adipose tissue. Adipose tissue was obtained from the same anatomical site - the subcutaneous, upper abdominal region - of white British males, either at coronary artery bypass surgery (designated as: FCHL-CHD (13 individuals, subdivided on TG response to statins into Group 1 (n=4), Group 2 (n=7) and unclassified (n=2)) and non-FCHL-CHD patients (6 individuals)), or at heart valve replacement: non-FCHL, non-CHD subjects (5 individuals; controls).
2013-10-29 | E-GEOD-51625 | biostudies-arrayexpress
Project description:Agilent whole exome hybridisation capture was performed on genomic DNA derived from Chondrosarcoma cancer and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to re find and validate the findings of those exome libraries using bespoke pulldown methods and sequencing the products.
2016-05-17 | E-ERAD-37 | biostudies-arrayexpress
Project description:Tumor heterogeneity may reduce the efficacy of molecularly guided systemic therapy for cancers that have metastasized. To determine whether the genomic alterations in a single metastasis provide a reasonable assessment of the major oncogenic drivers of other dispersed metastases in an individual, we analyzed multiple tumors from men with disseminated prostate cancer through whole-exome sequencing, array comparative genomic hybridization (CGH) and RNA transcript profiling, and we compared the genomic diversity within and between individuals.
2016-02-16 | GSE77930 | GEO
Project description:Paired end whole exome sequencing for patient 10, matched normal and tumor
2020-02-01 | E-MTAB-8127 | biostudies-arrayexpress