Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA281233 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Affymetrix SNP Array data for familial coarctation of the aorta (CoA) I
| PRJNA281234 | ENA
Project description:Coarctation of the aorta (CoA) accounts for 5-8% of all congenital heart defects. CoA can be detected in up to 20% of patients with Ullrich-Turner syndrome (UTS), in which a part or all of one of the X chromosomes is absent. The etiology of non-syndromic CoA is poorly understood. In the present work, we test the hypothesis that rare copy number variation (CNV) especially on the gonosomes, contribute to the etiology of non-syndromic CoA. We performed high-resolution genome-wide CNV analysis using the Affymetrix SNP 6.0 microarray platform for 13 individuals from 3 families with familial CoA.
2015-04-16 | E-GEOD-67930 | biostudies-arrayexpress
Project description:Coarctation of the aorta (CoA) accounts for 5-8% of all congenital heart defects. CoA can be detected in up to 20% of patients with Ullrich-Turner syndrome (UTS), in which a part or all of one of the X chromosomes is absent. The etiology of non-syndromic CoA is poorly understood. In the present work, we test the hypothesis that rare copy number variation (CNV) especially on the gonosomes, contribute to the etiology of non-syndromic CoA. We performed high-resolution genome-wide CNV analysis using the Affymetrix SNP 6.0 microarray platform for 70 individuals with sporadic CoA.
2015-04-16 | E-GEOD-67929 | biostudies-arrayexpress
Project description:Affymetrix SNP array data of melanoma cell lines II
| PRJNA379986 | ENA
Project description:Coarctation of the aorta (CoA) is a relatively common congenital heart defect that affects males more often than females. The underlying causes are not known, but a combination of genetic factors and abnormalities linked to embryonic development is suspected. There are only a few studies of the underlying molecular mechanisms in CoA. The aim of the current study was to expand our understanding of the pathogenesis of CoA by characterizing the transcriptome of the coarctation area.
2024-09-19 | GSE263570 | GEO
Project description:Affymetrix SNP array data for rhabdomyosarcoma samples
| PRJNA269634 | ENA
Project description:The objective of the current investigation was to use microarray techniques to quantify differentially expressed genes (DEGs) in the upstream aorta subjected to high arterial BP after surgical induction of CoA, and restoration of normal arterial BP after its correction. DEGs may offer additional insight into potential mechanisms of persistent CV morbidity despite successful surgical repair. Male New Zealand white rabbits ~10 weeks old and weighing ~1.0 kg randomly underwent proximal dAo CoA. A 20 mmHg BP gradient was imposed using silk (permanent) or Vicryl (degradable) suture to mimic untreated CoA and surgically corrected CoA, respectively. Rabbits develop a pronounced stenosis and accompanying elevated BP as a stimulus for arterial remodeling within one week. Degradation of Vicryl suture in the corrected group restores aortic diameter close to normal, but with modest residual narrowing. Non-experimental rabbits were designated as a control group. This results in a statistically significant increase in mean, systolic and pulse BP proximal to the coarctation for CoA as compared to both control and corrected rabbits. A ~4 mm circumferential region from the proximal aorta between the coarctation site and left subclavian artery was excised at harvest (32 weeks of age) and frozen. Frozen samples (n=4/group) were shipped overnight to Arraystar, Inc (Rockville, MD) for microarray analysis.
2015-07-10 | E-GEOD-70687 | biostudies-arrayexpress