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Dataset results
190 results for “Inner ear”
Studying Inner ear development through the use of the CARLIN mouse model to label progenitor cells, identifying the potency of early cell types in the otocyst
GEO Series GSE296898. Mus musculus. 2 samples. Type: Expression profiling by high throughput sequencing.
Gene expression profiles in the inner ears of Fscn2 knockout mice compared with the control mice
GEO Series GSE252226. Mus musculus. 6 samples. Type: Expression profiling by array; Non-coding RNA profiling by array.
MicroRNAs as Regulators of Aging Processes in the Cochlear Lateral Wall of the Mouse Inner Ear
GEO Series GSE98072. Mus musculus; synthetic construct. 12 samples. Type: Expression profiling by array; Non-coding RNA profiling by array.
MicroRNAs as Regulators of Aging Processes in the Cochlear Lateral Wall of the Mouse Inner Ear (mRNA data set)
GEO Series GSE98070. Mus musculus. 6 samples. Type: Expression profiling by array.
Mutation of PAX3 gene impairs otic vesicles via inhibiting the Wnt1/β-catenin signaling pathway in inner ear organoids of Waardenburg syndrome type I
GEO Series GSE225031. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
MicroRNAs as Regulators of Aging Processes in the Cochlear Lateral Wall of the Mouse Inner Ear (microRNA data set)
GEO Series GSE98071. Mus musculus; synthetic construct. 6 samples. Type: Non-coding RNA profiling by array.
CHD7 functions upstream of the retinoic acid synthetase ALDH1A3 to regulate inner ear development
GEO Series GSE103288. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Effect of PD0325901 on gene expression during inner ear organoids differentiation
GEO Series GSE261682. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Dataset raw data related to article "In-depth genetic and molecular characterization of Diaphanous Related Formin 2 (DIAPH2) and its role in the inner ear"
<p>This record contains the raw data (Exome sequencing) related to article "In-depth genetic and molecular characterization of DIAPH2 as a novel candidate gene for hearing loss"</p> <p><strong>ABSTRACT </strong></p> <p>Hereditary hearing loss is characterized by an extreme genetic heterogeneity. Nowadays, whole-exome sequencing represents a reasonably cost-effective approach for both mutational screening of known deafness genes and novel disease-gene identification. Here, we investigate the role of Diaphanous-related formin 2 (DIAPH2), coding for a protein involved in actin filament elongation, in nonsyndromic hearing loss. Using whole-exome sequencing, we found a predicted pathogenic missense variant at a conserved site in <em>DIAPH2</em>, which segregated with nonsyndromic X-linked hearing loss in an Italian family. Our immunohistochemical studies indicated that the mouse ortholog protein Diaph2 is expressed during development in the cochlea, specifically in the actin-rich stereocilia of the sensory outer hair cells. <em>In-vitro</em> studies showed a possible functional impairment of the mutant DIAPH2 protein upon RhoA-dependent activation. Finally, <em>Diaph2</em> knock-out and knock-in mice were generated by CRISPR/Cas9 technology and auditory brainstem response measurements performed at 4, 8 and 14 weeks. However, no hearing impairment was detected, possibly due to functional redundancy/compensation by other diaphanous proteins. Our findings indicate that <em>DIAPH2</em> may play a role in the inner ear; further studies are however needed to clarify the contribution of <em>DIAPH2</em> to deafness.</p> <p> </p>
Dataset related to article "In-depth genetic and molecular characterization of Diaphanous Related Formin 2 (DIAPH2) and its role in the inner ear"
<p>This record contains data (Table S1 to S4, Figure S1 to S12, File S1) related to article “In-depth genetic and molecular characterization of Diaphanous Related Formin 2 (<em>DIAPH2</em>) and its role in the inner ear” . </p> <p>Specifically, the record contains the following supplementary information to the article:</p> <p>Table S1. Coding sequence coverage of known autosomal recessive and X-linked NSHL-causing genes in exome data.</p> <p>Table S2. Prioritized variants shared between affected siblings III1 and III3.</p> <p>Table S3. CNVs shared between affected siblings III1 and III3.</p> <p>Table S4. Primers used for genetic screening of candidate genes/variants.</p> <p>Figure S1. Analysis of auditory brainstem evoked potentials in proband III3.</p> <p>Figure S2. Expression of mouse <em>Diaph2 </em>mRNA in P4 organ of Corti by RT-PCR. </p> <p>Figure S3. Diaph2 expression in E14.5 and E16.5 wild-type mouse cochlea.</p> <p>Figure S4. Evaluation of Diaph2 expression in whole-mount mouse cochleas.</p> <p>Figure S5. Diaph2 expression in P7 and P14 wild-type mouse cochlea.</p> <p>Figure S6. <em>In-silico</em> analysis of the impact of c.868A>G variant on <em>DIAPH2</em> pre-mRNA splicing.</p> <p>Figure S7. <em>In-vitro</em> analysis of the impact of c.868A>G variant on <em>DIAPH2</em> pre-mRNA splicing.</p> <p>Figure S8. <em>In-vitro</em> characterization of the effect of the c.868A>G variation on splicing using a <em>DIAPH2</em>minigene spanning exons 6 to 9.</p> <p>Figure S9. Analysis of <em>DIAPH2</em> exon 8 splicing in blood from NSHL3 family subjects.</p> <p>Figure S10. <em>In-vivo</em> analysis of <em>Diaph2</em> exon 8 splicing in the mouse cochlea.</p> <p>Figure S11. Pathogenicity prediction of the p.I290V missense variant with 8 commonly used software.</p> <p>Figure S12. DIAPH2 immunolocalization studies in basal conditions.</p> <p>File S1. Supplementary Methods</p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.