Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
6
datasets available to search
ShareScore release 0.9.0
Dataset results
6 results for “RYR2”
Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants
<p class="MsoNormal"><span>We illustrate the use of induced pluripotent stem cells (iPSCs) as platforms for investigating cardiomyocyte phenotypes in a human family pedigree exemplified by novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants occurring alone and in combination. The proband, a four-month-old boy, presented with </span><span>polymorphic</span><span> ventricular tachycardia (</span><span>P</span><span>VT). Genetic tests revealed double novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants inherited from his father (F) and mother (M) respectively. His father showed ventricular premature beats (VPB); his mother was asymptomatic. Molecular biological characterisations demonstrated greater <em>TNNT2</em> mRNA expression in the iPSCs-induced cardiomyocytes (iPS-CMs) than in the iPSCs</span><span>.</span><span> </span><span>c</span><span>TNTs became progressively organised, but cytoplasmic RYR2 and SCN10A aggregations occurred in the iPS-CMs. Proband-specific iPS-CMs showed decreased <em>RYR2</em> and <em>SCN10A</em> mRNA expression. The RYR2-A1855D variant resulted in premature spontaneous sarcoplasmic reticular (SR) Ca<sup>2+</sup> transients (PCTs), Ca<sup>2+</sup> oscillations (COs), and increased action potential durations (APDs). SCN10A-Q1362H did not confer any specific phenotype. However, the </span><span>combined </span><span>heterozygous RYR2-A1855D and SCN10A-Q1362H variants in the proband iPS-CMs resulted in accentuated Ca<sup>2+</sup> homeostasis disorders, AP prolongation and susceptibility to early afterdepolarisations (EADs) at high stimulus frequencies. These findings attribute the clinical phenotype in the proband to effects of the heterozygous <em>RYR2</em> variant exacerbated by heterozygous <em>SCN10A</em> modification. </span></p>
Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants
Open the record for dataset details and reuse information.
Attempts to create transgenic mice carrying the Q3925E mutation in RyR2 Ca2+ binding site
GEO Series GSE276596. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
RyR2 regulates store-operated Ca2+ entry, phospholipase C activity, and electrical excitability in the insulinoma cell line INS-1
<p>These are the minimal data files required for deposit by PLoS One before publication.</p>
RyR2 inhibitor attenuates cardiac hypertrophy by downregulating TNF-α/NF-κB/NLRP3 signaling pathway
GEO Series GSE184769. Mus musculus. 12 samples. Type: Expression profiling by high throughput sequencing.
CD38-RyR2 axis mediated signaling impedes CD8+ T cell response to anti-PD1 therapy in cancer
GEO Series GSE251829. Homo sapiens. 1 samples. Type: Expression profiling by high throughput sequencing.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
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.