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1,921 results for “onset”
Pediatric Reporting of Adult-Onset Genomic Results
ClinicalTrials.gov study NCT03832985. IPD Sharing: YES. Countries: 1. Publications: 22.
Data from: Repeated evolution of reduced visual investment at the onset of ecological speciation in high-altitude <em>Heliconius</em> butterflies
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Data for: Faster growth and larger size at crèche onset are associated with higher offspring survival in Adélie Penguins
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UNO experimental dataset for: Multiscale bedform reorganization at the onset of substantial suspended sediment transport
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Data for: Multiscale bedform reorganization at the onset of substantial suspended sediment transport
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Size-associated energetic constraints on the seasonal onset of reproduction in a species with indeterminate growth
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Novel DMD mouse model carrying a multi-exonic Dmd deletion exhibit progressive muscular dystrophy and early-onset cardiomyopathy
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which is the primary cause of death in DMD. While there has been extensive effort in creating animal models to study treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. Here, we generated a mouse model mirroring a patient deletion mutation of exons 52-54 (<i>Dmd &[Delta]52-54</i>). The <i>Dmd &[Delta]52-54</i> mutation led to the absence of dystrophin, resulting in progressive muscle deterioration with weakened muscle strength. Moreover, <i>Dmd &[Delta]52-54</i> present with early-onset cardiomyopathy which is absent in current pre-clinical dystrophin deficient mouse models. Therefore, <i>Dmd &[Delta]52-54</i> presents itself as an excellent pre-clinical model to evaluate the impact on skeletal and cardiac muscles for both mutation dependent and independent approaches.
Calcareous nannofossil size and abundance response to the Messinian Salinity Crisis onset and paleoenvironmental dynamics
<p>The file contains calcareous nannofossils (<em>Helicosphaera carteri, Sphenolithus abies, Umbilicosphaera rotula, Coccolithus pelagicus, Reticulofenestra minuta</em>) biometry data collected in the Messinian Perales section (Sorbas Basin, Spain) and in the Banengo and Pollenzo sections (Piedmont Basin, Italy)</p>
Genome-wide association results from: Transcriptomic stratification of late-onset Alzheimer's cases reveals novel genetic modifiers of disease pathology
<p>Late-Onset Alzheimer's disease (LOAD) is a common, complex genetic disorder well-known for its heterogeneous pathology. The genetic heterogeneity underlying common, complex diseases poses a major challenge for targeted therapies and the identification of novel disease-associated variants. Case-control approaches are often limited to examining a specific outcome in a group of heterogenous patients with different clinical characteristics. Here, we developed a novel approach to define relevant transcriptomic endophenotypes and stratify decedents based on molecular profiles in three independent human LOAD cohorts. By integrating post-mortem brain gene co-expression data from 2114 human samples with LOAD, we developed a novel quantitative, composite phenotype that can better account for the heterogeneity in genetic architecture underlying the disease. We used iterative weighted gene co-expression network analysis (WGCNA) to reduce data dimensionality and to isolate gene sets that are highly co-expressed within disease subtypes and represent specific molecular pathways. We then performed single variant association testing using whole genome-sequencing data for the novel composite phenotype in order to identify genetic loci that contribute to disease heterogeneity. Distinct LOAD subtypes were identified for all three study cohorts (two in ROSMAP, three in Mayo Clinic, and two in Mount Sinai Brain Bank). Single variant association analysis identified a genome-wide significant variant in <i>TMEM106B</i> (p-value < 5´10<sup>-8</sup>, rs1990620<sup><span><span>G</span></span></sup>) in the ROSMAP cohort that confers protection from the inflammatory LOAD subtype. Taken together,<b> </b>our novel approach can be used to stratify LOAD into distinct molecular subtypes based on affected disease pathways.</p>
A rare entity - percutaneous lead extraction in a very late onset pacemaker endocarditis - case report and review of literature
<p><strong>Video 1.</strong> Transthoracic two-dimensional echocardiography apical 4-chamber view: large hypoechogenic hyper-pedunculated mobile mass at the level of tricuspid valve; <strong>Video 2.</strong> Transesophageal two-dimensional echocardiography: low echogenicity pedunculated mass attached to the pacemaker lead, with multiple sites of binding, with no supplementary involvement of the tricuspid valve and myxomatous appearance of the posterior leaflet with hypermobility and rupture of chordae; <strong>Video 3. </strong>Fluoroscopy during the lead extraction procedure, after freeing the lead from adhesions: traction of the lead from the right ventricular apex, through the tricuspid valve, right atrium, superior vena cava and left subclavian vein, to complete lead removal; <strong>Video 4.</strong> Postprocedural transesophageal two-dimensional echocardiography: posterior leaflet chordae rupture, no residual vegetation, no pericardial effusion; <strong>Video 5.</strong> Transthoracic two-dimensional echocardiography parasternal short axis, no additional cardiac masses, posterior leaflet chordae rupture of the tricuspid valve; <strong>Video 6.</strong> Transthoracic two-dimensional echocardiography parasternal short axis, color Doppler: mild tricuspid regurgitation, with two small thin jets.</p>
Tomato Protein Phosphatase 2C (SlPP2C3) influences fruit ripening onset and fruit glossiness
<p><span>Abscisic acid (ABA) plays a vital role in coordinating physiological processes during fresh fruit ripening. ABA can bind to ABA receptors which interacts and inhibits their co-receptors type 2C phosphatases (PP2Cs). However, the dissected mechanism of PP2C during fruit ripening is unclear. In this study, we identify the role of SlPP2C3, a tomato type 2C phosphatase, as a negative regulator of ABA signaling and fruit ripening. SlPP2C3 selectively interacted with monomeric ABA receptors and SlSnRK2.8 kinase in both yeast and tobacco epidermal cells. Expressions of <i>SlPP2C3 </i>were observed in all tissues, and it negatively correlated with the fruit ripening which was induced by exogenous ABA. Tomato plants with suppressed <i>SlPP2C3</i> expression exhibited enhanced sensitivity to ABA, while <i>SlPP2C3</i> over-expressed plants were less sensitive to ABA. Meaningfully, lack of <i>SlPP2C3</i> expression causes the acceleration of fruit ripening onset via the alternation of ABA signaling activity, and the fruit gloss is affected by the changes of outer epidermis structure. RNA-seq analysis found significant different expression of cuticle-related genes in pericarp between wild-type and <i>SlPP2C3</i> suppressed lines. Taken together, our finding demonstrate that SlPP2C3 plays an important role in the regulation of fruit ripening and fruit appearance quality in tomato. </span></p>
Early Onset TAAD cohort logR Ratio and B allele frequency data
<p>Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections</p> <p>Abstract:</p> <p>Thoracic Aortic Aneurysms and Dissections (TAAD) are a major cause of death in the United States. The spectrum of TAAD ranges from genetic disorders, such as Marfan syndrome, to sporadic isolated disease of unknown cause. We hypothesized that genomic copy number variants (CNVs) contribute causally to early onset TAAD (ETAAD). We conducted a genome-wide SNP array analysis of ETAAD patients of European descent who were enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Genotyping was performed on the Illumina Omni-Express platform, using PennCNV, Nexus and CNVPartition for CNV detection. ETAAD patients (n = 108, 100% European American, 28% female, average age 20 years, 55% with bicuspid aortic valves) were compared to 7013 dbGAP controls without a history of vascular disease using downsampled Omni 2.5 data. For comparison, 805 sporadic TAAD patients with late onset aortic disease (STAAD cohort) and 192 affected probands from families with at least two affected relatives (FTAAD cohort) from our institution were screened for additional CNVs at these loci with SNP arrays. We identified 47 recurrent CNV regions in the ETAAD, FTAAD and STAAD groups that were absent or extremely rare in controls. Nine rare CNVs that were either very large (>1 Mb) or shared by ETAAD and STAAD or FTAAD patients were also identified. Four rare CNVs involved genes that cause arterial aneurysms when mutated. The largest and most prevalent of the recurrent CNVs were at Xq28 (two duplications and two deletions) and 17q25.1 (three duplications). The percentage of individuals harboring rare CNVs was significantly greater in the ETAAD cohort (32%) than in the FTAAD (23%) or STAAD (17%) cohorts. We identified multiple loci affected by rare CNVs in one-third of ETAAD patients, confirming the genetic heterogeneity of TAAD. Alterations of candidate genes at these loci may contribute to the pathogenesis of TAAD.</p> <p> </p>
LRP predicts smooth pursuit eye movement onset during the ocular tracking of self-generated movements
<p>Dataset relative to the following publication:</p> <p>Chen, J., Valsecchi, M. & Gegenfurtner, K.R. (2016). LRP predicts smooth pursuit eye movement onset during the ocular tracking of self-generated movements. <em>Journal of Neurophysiology, </em>in press</p> <p>Each folder contains the data relative to one experiment and the script that was used to generate them. Please refer to "Description on data format.txt" for the usage of the data.</p> <p>Additional information can be deducted from the experimental scripts.</p>
Spatial variation and inconsistency between estimates of onset of muscle activation from EMG and ultrasound
<p>Study abstract: Delayed onset of muscle activation is a descriptor of impaired motor control. Activation<br> onset can be estimated from electromyography (EMG)-registered muscle excitation and<br> from ultrasound-registered muscle motion, which enables non-invasive measurements in<br> deep muscles. However, in voluntary activation, EMG- and ultrasound-detected activation<br> onsets may not correspond. To evaluate this, ten healthy men performed isometric elbow<br> flexion at 20% to 70% of their maximal force. Utilising a multi-channel electrode<br> transparent to ultrasound, EMG and M(otion)-mode ultrasound were recorded<br> simultaneously over the biceps brachii muscle. The time intervals between automated and<br> visually estimated activation onsets were correlated with the regional variation of EMG<br> and muscle motion onset, contraction level and speed. Automated and visual onsets<br> indicated variable time intervals between EMG- and motion onset, median (interquartile<br> range) 96 (121) ms and 48 (72) ms, respectively. In 17% of trials (computed analysis) or<br> 23% (visual analysis), motion onset was detected before local EMG onset. Multi-channel<br> EMG and M-mode ultrasound revealed regional differences in activation onset, which<br> decreased with higher contraction speed (Spearman ρ≥0.45, P<0.001). In voluntary<br> activation the heterogeneous motor unit recruitment together with immediate motion<br> transmission may explain the high variation of the time intervals between local EMG- and<br> ultrasound-detected activation onset.</p> <p>Data description:</p> <p><strong>EMG data:</strong> folder includes the EMG, torque and synchronization signal data as .otb files. The respective program can be downloaded without costs from http://www.otbioelettronica.it/index.php?lang=en. Data consist of two series (Misome2 and Misome3) of isometric trials at different force levels. The first three digits refer to the subject number.</p> <p><strong>M-mode ultrasound data</strong>: folder includes the M-mode clips of all recorded trials in .tvd format. The respective program can be downloaded for free at http://www.telemedultrasound.com/download/software-downloads/?lang=en. In addition, images of activation onset in DICOM format are provided. The data are sorted for subjects and series (Misome2 and Misome3). The following explanation refers to the filenames of the DICOM images. Usually, the M-mode trace started at the left side synchronously with the synch signal. In this case the rightmost frame of the trace is missing to indicate that the left edge represents the start of the trace. If the file name includes “ons50”, the frame includes the 50. frame = the rightmost frame, still starting with the synch signal. If the filename includes on100, the rightmost frame is the 100. frame and the duration of 50 frames must be added to the visible onset time. Filenames that include “basel” refer to frames that represent a proper delineation of the baseline.</p> <p><strong>Excel data sheet</strong>: Data sheet that includes the computed and visual EMG, M-mode ultrasound and torque onsets, the rate of torque development and the differences between the different types of onsets. The column headers explain the data type, most comprehensively in the first computed data sheet. The colors facilitate the orientation with blue columns referring to torque onsets and green columns referring to ultrasound onsets. The violet EMG channels are those in vicinity to the ultrasound beam. In the second version of each sheet the 5% slowest trials are separated.</p>
Supplemental Movie for "The basis of sharp spike onset in standard biophysical models"
<p>Simulation of extracellular field during action potential.</p>
miRNA counts identified by RNA seq in the caudate nucleus of patients neuropathologically diagnosed with late-onset Alzheimer's disease (non-carriers and carriers of intermediate expansions in the HTT gene) and healthy subjects.
<p>These data include the raw miRNA counts identified by RNA-seq in <em>post mortem</em> caudate nucleus samples. Samples with identifier <strong>A</strong> belong to patients with a neuropathological diagnosis of late-onset Alzheimer's disease. Group <strong>B</strong> samples belong to patients with the same neuropathological diagnosis, but carrying CAG expansions in the intermediate range (27-35 CAG) in the <em>HTT</em> gene. Finally, group <strong>C </strong>samples belong to healthy subjects without neuropathological diagnosis. </p> <p> </p>
Immunosuppressive niche engineering at the onset of human colorectal cancer
<p>Dataset used in "Immunosuppressive niche engineering at the onset of human colorectal cancer" by Gatenbee et al. 2022. </p>
Configuration of magnetotail current sheet prior to magnetic reconnection onset
<p>Data repository for "Configuration of magnetotail current sheet prior to magnetic reconnection onset". This repository contains the following files: (1) "xyarray" is the main dataset; (2) "read_pritchett_pic_2d.py" is the python module that reads xyarray; (3) "simulation_params2.py" is the auxiliary python module that stores simulation parameters; (3) The python scripts with prefix "prod2_" plot the production figures; (4) "plt_style.py" is the plotting style sheet; (5) "movie-prod2_ratio-force.mp4" shows the evolution of different terms in the momentum equation prior to magnetic reconnection (The gray lines stand for the sum of all terms).</p>
Onset of electron captures and shallow heating in magnetars
<p>The loss of magnetic pressure accompanying the decay of the magnetic field in a magnetar may trigger exothermic electron captures by nuclei in the shallow layers of the outer crust. The threshold density and pressure, as well as the maximum amount of heat that can be possibly released were calculated for different nuclei. The Landau-Rabi quantization of electron motion was taken into account using approximate analytical formulas. Results were obtained using experimental atomic masses and the <span class="math-tex">\(Q_\beta\)</span> values (included recommended ones) from the <a href="http://amdc.in2p3.fr/web/masseval.html">2016 Atomic Mass Evaluation</a> supplemented with the atomic mass model <a href="https://link.aps.org/doi/10.1103/PhysRevC.88.024308">HFB-24</a> available on the <a href="http://www.astro.ulb.ac.be/bruslib/">BRUSLIB</a> database.</p> <p>Each file contains data for electron captures by nuclei with the specified charge number Z and mass number A. The columns are as follows: </p> <ul> <li>magnetic field strengh in units of <span class="math-tex">\(B_{\rm rel}=\dfrac{m_e^2 c^3}{e \hbar}\approx 4.41\times 10^{13}\, \rm G\)</span></li> <li>the pressure in dyn cm<sup>-2</sup></li> <li>the mass density in g cm<sup>-3</sup></li> <li>the heat per nucleon in MeV.</li> </ul> <p>The files with (without) label 'ex' contain results for ground state to excited state (ground state) transitions.</p>
Relative importance of meridional and zonal sea surface temperature gradients for the onset of the ice ages and Pliocene-Pleistocene climate evolution
<p>Climatologies from the 3 different model simulations performed for the paper published in Paleoceanography (2010, v25, issue 2, <a href="https://doi.org/10.1029/2009PA001809">https://doi.org/10.1029/2009PA001809</a>). This table shows how the names of the simulations provided here relate to the names in the paper:</p> <table align="center"> <caption>Simulation names for cross-referencing</caption> <thead> <tr> <th scope="col">Name of Files</th> <th scope="col">Name in Article</th> </tr> </thead> <tbody> <tr> <td>EPSST_T_85.*.nc</td> <td>Early Pliocene Simulation</td> </tr> <tr> <td>New_MZSST_T_85.*.nc</td> <td>Modern Zonal Simulation</td> </tr> <tr> <td>ctl_85_Kerry.*.nc</td> <td>Modern Control Simulation</td> </tr> </tbody> </table> <p>Additionally the NCL script originally used to create all the figures is included. It is called paleoc_onsetNHG_rev.ncl. The abstract of the paper is below:</p> <p>"During the early Pliocene (roughly 4 Myr ago), the ocean warm water pool extended over most of the tropics. Subsequently, the warm pool gradually contracted toward the equator, while midlatitudes and subpolar regions cooled, establishing a meridional sea surface temperature (SST) gradient comparable to the modern about 2 Myr ago (as estimated on the eastern side of the Pacific). The zonal SST gradient along the equator, virtually nonexistent in the early Pliocene, reached modern values between 1 and 2 Myr ago. Here, we use an atmospheric general circulation model to investigate the relative roles of the changes in the meridional and zonal temperature gradients for the onset of glacial cycles and for Pliocene-Pleistocene climate evolution in general. We show that the increase in the meridional SST gradient reduces air temperature and increases snowfall over most of North America, both factors favorable to ice sheet inception. The impacts of changes in the zonal gradient, while also important over North America, are somewhat weaker than those caused by meridional temperature variations. The establishment of the modern meridional and zonal SST distributions leads to roughly 3.2°C and 0.6°C decreases in global mean temperature, respectively. Changes in the two gradients also have large regional consequences, including aridification of Africa (both gradients) and strengthening of the Indian monsoon (zonal gradient). Ultimately, this study suggests that the growth of Northern Hemisphere ice sheets is a result of the global cooling of Earth's climate since 4 Myr rather than its initial cause. Thus, reproducing the correct changes in the SST distribution is critical for a model to simulate the transition from the warm early Pliocene to a colder Pleistocene climate."</p> <p> </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.