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129 results for “Gain-of-Function”
Up-regulation of ERG11 is prevalent among azole-resistant clinical isolates of Candida albicans and is only partially explained by gain-of-function mutations in UPC2
GEO Series GSE39201. Candida albicans. 10 samples. Type: Expression profiling by array.
HoxA13 gain-of-function in chicken embryo PSM progenitors.
GEO Series GSE38107. Gallus gallus. 4 samples. Type: Expression profiling by array.
Pro-Inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING
GEO Series GSE111198. Mus musculus. 13 samples. Type: Expression profiling by array.
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice
<p>The E3 ubiquitin ligase Ube3a is biallelically expressed in mitotic cells, including neural progenitors and glial cells, raising the possibility that UBE3A gain-of-function mutations might cause neurodevelopmental disorders irrespective of parent-of-origin. To test this possibility, we engineered a mouse line that harbors an autism-linked UBE3A-T485A (T508A in mouse) gain-of-function mutation and evaluated phenotypes in animals that inherited the mutant allele paternally, maternally, or from both parents. We found that both paternally and maternally expressed UBE3A-T485A resulted in elevated UBE3A activity in neural progenitors and glial cells where Ube3a is biallelically expressed. Expression of UBE3A-T485A from the maternal allele, but not the paternal one, led to a persistent elevation of UBE3A activity in postmitotic neurons. Maternal, paternal, or biparental inheritance of the mutant allele promoted embryonic expansion of Zcchc12 lineage interneurons which mature into Sst and Calb2 expressing interneurons, and caused a spectrum of behavioral phenotypes that differed by parent-of-origin. Phenotypes were distinct from those observed in Angelman syndrome model mice that harbor a Ube3a maternal loss-of-function allele. Our study shows that the UBE3A-T485A gain-of-function mutation causes distinct neurodevelopmental phenotypes when inherited maternally or paternally. These findings have clinical implications for a growing number of disease-linked UBE3A gain-of-function mutations.</p> <p>Single-cell RNA-seq (drop-seq) of mouse cerebral cortex from Ube3a-WT, Ube3a-T485A homozygotes, assessed at two ages: E14.5 and P0</p>
Dataset (II) related to publication: A cancer-associated K-RAS mutant protein that preferentially binds GDP displays gain-of-function and atypical signaling
<p>Dataset (II) related to publication:</p> <blockquote> <p>A cancer-associated K-RAS mutant protein that preferentially binds GDP displays gain-of-function and atypical signaling</p> </blockquote> <p>Includes raw trajectories of MD-simulations: K-RAS(M67L)+GDP replicas 11–20 (each replica 10 micros.)</p> <ul> <li>Individual .zip files contain raw-desmond trajectories (-out.cms files and trj-files)</li> </ul> <p>Other datasets related to this publication: 10.5281/zenodo.5506845 and 10.5281/zenodo.5507131</p>
Dataset (III) related to publication: A cancer-associated K-RAS mutant protein that preferentially binds GDP displays gain-of-function and atypical signaling
<p>Dataset (III) related to publication:</p> <blockquote> <p>A cancer-associated K-RAS mutant protein that preferentially binds GDP displays gain-of-function and atypical signaling</p> </blockquote> <p>Includes raw trajectories of MD-simulations: K-RAS(WT)+GDP replicas 1–10 (each replica 10 micros.)</p> <ul> <li>Individual .zip files contain raw-desmond trajectories (-out.cms files and trj-files)</li> </ul> <p>Other datasets related to this publication: 10.5281/zenodo.5506845 and 10.5281/zenodo.5507212</p>
Dataset (I) related to publication: A cancer-associated K-RAS mutant protein that preferentially binds GDP displays gain-of-function and atypical signaling
<p>Dataset (I) related to publication:</p> <blockquote> <p>A cancer-associated K-RAS mutant protein that preferentially binds GDP displays gain-of-function and atypical signaling</p> </blockquote> <p>Includes raw trajectories of MD-simulations: K-RAS(M67L)+GDP replicas 1–10 (each replica 10 micros.) and K-RAS(M67L)+GDP in complex with RALGDS (1 micros.; SI Movie trajectory)</p> <ul> <li>Individual .zip files contain raw-desmond trajectories (-out.cms files and trj-files)</li> </ul> <p>Other datasets related to this publication: 10.5281/zenodo.5507131 and 10.5281/zenodo.5507212</p>
Gain-of-function mutants of SOC1 vs soc1-2
GEO Series GSE3279. Arabidopsis thaliana. 7 samples. Type: Expression profiling by array.
Microarray data Ptf1a gain-of-function Xenopus pancreas development
GEO Series GSE34193. Xenopus laevis. 14 samples. Type: Expression profiling by array.
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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.