EGAS00001000001-sc-20120711 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000197 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Exome resequencing of progressive hearing loss.
| EGAS00001000001 | EGA
Project description:Treatment of DBA/2J mice with a combination of L-methionine and valproic acid significantly attenuated progressive hearing loss. We examined gene expression in the whole cochlea of the mice. This study was aimed to detect genes of which change in expression levels were associated with attenuation of progressive hearing loss in the mice. DBA/2J mice at 4 weeks old (untreated_4-weeks, N=5), mice treated with control vehicle (0.1M sodium bicarbonate) for 8 weeks (Control_vehicle_12-weeks, N=5), and mice treated with L-methionine and valproic acid (MET_and_VA_12-weeks, N=6) were analyzed.
2015-04-15 | E-GEOD-62173 | biostudies-arrayexpress
Project description:The aim is to find new candidate genes associated with progressive hearing loss
| EGAS00001000295 | EGA
Project description:Treatment of DBA/2J mice with a combination of L-methionine and valproic acid significantly attenuated progressive hearing loss. We examined gene expression in the whole cochlea of the mice. This study was aimed to detect genes of which change in expression levels were associated with attenuation of progressive hearing loss in the mice.
2015-04-15 | GSE62173 | GEO
Project description:DNA from ten individuals from South Carolina with progressive hearing loss will be subjected to exome sequencing
| EGAS00001000157 | EGA
Project description:Objectives: Despite recent advancements in diagnostic tools, the genomic landscape of hereditary hearing loss remains largely uncharacterized. One strategy to understand genome-wide aberrations includes the analysis of copy number variation that can be mapped using SNP-microarray technology. A growing collection of literature has begun to uncover the importance of copy number variation in hereditary hearing loss. This pilot study underpins a larger effort that involves the stage-wise analysis of hearing loss patients, many of whom have advanced to high-throughput sequencing analysis. Data description: Our data originate from Infinium HumanOmni1-Quad v1.0 SNP-microarrays (Illumina) that provide useful markers for genome-wide association studies and copy number variation analysis. This dataset comprises a cohort of 108 individuals (99 with hearing loss, 9 normal hearing family members) for the purpose of understanding the genetic contribution of copy number variations to hereditary hearing loss.
2018-03-06 | GSE111131 | GEO
Project description:Age-related hearing loss (AHL) is the progressive loss of auditory function with aging. The DBA/2J (DBA) mice have been used as a model of AHL and undergoes progressive, age-related hearing loss by 12 weeks of age. Here we analyzed cochlear gene expression of 7-week-old and 36-week-old DBA mice using microarrays. Auditory brainstem response (ABR) analysis confrimed that severe age-related hearing loss occured in 36-week-old mice, whereas moderate hearing loss occured in 7-week-old mice. Comprehensive gene expression analysis identified genes correlated with AHL and revealeed that 15 mitochondrial process categories, including â??mitochondrial electron transport chainâ??, â??oxidative phosphorylationâ??, â??respiratory chain complex Iâ??, â??respiratory chain complex IVâ??, and â??respiratory chain complex Vâ??, were statistically associated with AHL-correlated genes in the cochlea of 36-week-old DBA mice, and that 25 genes encoding components of the mitochondrial respiratory chain (respiratory chain complex I, IV, and V) were significantly down-regulated in the cochlea. These observations provide evidence that AHL is associated with down-regulation of genes involved in the mitochondrial respiratory chain in the cochlea of DBA mice, and suggest that mitochondrial respiratory chain dysfunction may be a key feature of AHL in mammalian cochlea. Experiment Overall Design: To determine the effects of age-related hearing loss, each 7-week-old sample (n = 3) was compared to each 36-week-old sample (n = 3), generating a total of nine pairwise comparisons. Using DAVIS and EASE, the identified genes were assign to â??GO: Biological Processâ?? categories of Gene Ontology Consortium. Furthermore, we used EASE to determine the total number of genes that were assigned to each biological process category, and to perform Fisher exact test. Quality control measures were not used. No replicates were done. Dye swap was not used.
2008-06-14 | E-GEOD-6045 | biostudies-arrayexpress
Project description:Usher syndrome type III (USH3), caused by mutations in CLRN1 encoding clarin-1, presents with progressive hearing loss, vestibular dysfunction, and retinitis pigmentosa, with striking phenotypic variability even among patients sharing identical mutations. Clarin-1's paralog, clarin-2 (encoded by CLRN2), is similarly implicated in hearing loss, suggesting potential functional interplay between these proteins. To investigate this relationship, we conducted RNA-sequencing of cochlear tissues from Clrn1-/-, Clrn2-/-, and Clrn1-/-Clrn2-/- double-knockout mice, revealing that clarin-1 and clarin-2 cooperatively regulate essential auditory processes, including mechanoelectrical transduction, ionic homeostasis, and synaptic organization. The double knockout mice exhibited synergistic disruption of these pathways, resulting in more severe hearing deficits than either single knockout, demonstrating that these proteins functionally compensate for one another. These findings suggest that CLRN2 variants may influence hearing outcomes in USH3 patients, supporting the integration of CLRN2 analysis into genetic diagnostics. By demonstrating that clarin-1 and clarin-2 share overlapping functional roles in the inner ear, this study redefines USH3 as a network-dependent disorder, offering new insights for therapeutic development. The RNA-seq dataset provides a comprehensive resource for exploring gene interactions in auditory function and advancing precision medicine approaches for hearing loss.
2026-02-24 | GSE312253 | GEO
Project description:Gene Discovery in Age-Related Hearing Loss
| EGAD00001000198 | EGA
Project description:Hearing loss in adults from South Carolina
| EGAD00001000204 | EGA