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.
75
datasets available to search
ShareScore release 0.9.0
Dataset results
75 results for “FSHD”
Efficacy and Safety of Losmapimod in Treating Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (REACH)
ClinicalTrials.gov study NCT05397470. IPD Sharing: YES. Countries: 9. Publications: 4.
FSHD Molecular Characterization
ClinicalTrials.gov study NCT06096441. IPD Sharing: UNDECIDED. Countries: 1. Publications: 5.
Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE)
ClinicalTrials.gov study NCT04264442. IPD Sharing: NO. Countries: 4. Publications: 7.
Study of Testosterone and rHGH in FSHD
ClinicalTrials.gov study NCT03123913. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)
ClinicalTrials.gov study NCT04003974. IPD Sharing: NO. Countries: 4. Publications: 9.
Data from: Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHD
DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). While DUX4's transcriptional activity has been extensively characterized, the DUX4-induced proteome remains undescribed. Here, we report concurrent measurement of RNA and protein levels in DUX4-expressing cells via RNA-seq and quantitative mass spectrometry. DUX4 transcriptional targets were robustly translated, confirming the likely clinical relevance of proposed FSHD biomarkers. However, a multitude of mRNAs and proteins exhibited discordant expression changes upon DUX4 expression. Our dataset revealed unexpected proteomic, but not transcriptomic, dysregulation of diverse molecular pathways, including Golgi apparatus fragmentation, as well as extensive post-transcriptional buffering of stress response genes. Key components of RNA degradation machineries, including UPF1, UPF3B, and XRN1, exhibited suppressed protein, but not mRNA, levels, explaining the build-up of aberrant RNAs that characterizes DUX4-expressing cells. Our results provide a resource for the FSHD community and illustrate the importance of post-transcriptional processes to DUX4-induced pathology.
Digital Biotyping of FSHD Patients and Controls
ClinicalTrials.gov study NCT04999735. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD)
ClinicalTrials.gov study NCT01596803. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD
ClinicalTrials.gov study NCT02948244. IPD Sharing: NO. Countries: 1. Publications: 0.
Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study
ClinicalTrials.gov study NCT04038138. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
ClinicalTrials.gov study NCT03458832. IPD Sharing: UNDECIDED. Countries: 6. Publications: 1.
Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
ClinicalTrials.gov study NCT01970735. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Data from: Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHD
Open the record for dataset details and reuse information.
Supplemental table from: CLIA laboratory testing for Facioscapulohumeral Dystrophy (FSHD): a retrospective analysis
<p><span><span><span><span><span><span><span><span><span><span><span><b>Objective:</b> To summarize facioscapulohumeral muscular dystrophy (FSHD) diagnostic testing results from the University of Iowa Molecular Pathology Laboratory. </span></span></span></span></span></span></span></span></span></span></span></p> <p><span><span><span><span><span><span><span><span><span><span><span><b>Methods:</b> All FSHD tests performed in the diagnostic laboratory January 2015-July 2019 were retrospectively reviewed. Testing was by restriction enzyme digestion and Southern blot analysis with sequencing of <i>SMCHD1,</i> if indicated. Cases were classified as FSHD1 (4q35 EcoRI size ≤40kb; 1-10 D4Z4 repeats), FSHD2 (permissive 4q35A allele, D4Z4 hypomethylation, and pathogenic <i>SMCHD1</i> variant), or non-FSHD1,2. We also noted cases with borderline EcoRI fragment size (41-43kb; 11 D4Z4 repeats), cases that meet criteria for both FSHD1 and FSHD2, somatic mosaicism, and cases with hybrid alleles that add complexity to test interpretation. </span></span></span></span></span></span></span></span></span></span></span></p> <p><span><span><span><span><span><span><span><span><span><span><span><b>Results:</b> Of the 1594 FSHD tests included in the analysis, 703 (44.1%) were diagnosed with FSHD. Among these positive tests, 664 (94.5%) met criteria for FSHD1 and 39 (5.5%) met criteria for FSHD2. Of all 1594 cases, 20 (1.3%) had a 4q35 allele of borderline size, 23 (1.5%) were somatic mosaics, and 328 (20.9%) had undergone translocation events. Considering only cases with at least one 4q35A allele, D4Z4 repeat number differed significantly among groups: FSHD1 cases median of 6.0 (IQR: 4-7) repeats, FSHD2 cases 15.0 (IQR: 12-22) repeats, and non-FSHD1,2 cases 28.0 (IQR: 19-40) repeats. </span></span></span></span></span></span></span></span></span></span></span></p> <p><strong>Conclusion: </strong>FSHD1 accounts for 94.5% of genetically confirmed cases of FSHD. The data show a continuum of D4Z4 repeat numbers with FSHD1 samples having the fewest, FSHD2 an intermediate number, and non-FSHD1,2 the most.</p>
Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)
ClinicalTrials.gov study NCT02927080. IPD Sharing: Not stated. Countries: 3. Publications: 0.
Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Participants With Limb Girdle and Facioscapulohumeral Muscular Dystrophy (FSHD)
ClinicalTrials.gov study NCT02836418. IPD Sharing: NO. Countries: 3. Publications: 0.
Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
ClinicalTrials.gov study NCT03943290. IPD Sharing: Not stated. Countries: 3. Publications: 0.
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Facioscapulohumeral Muscular Dystrophy (FSHD)
ClinicalTrials.gov study NCT02579239. IPD Sharing: Not stated. Countries: 3. Publications: 0.
Ultrasound Detection of Early Facial Muscle Changes in FSHD: Thickness and Echo Intensity Findings
ClinicalTrials.gov study NCT07331025. IPD Sharing: NO. Countries: 1. Publications: 0.
Supplemental table from: CLIA laboratory testing for Facioscapulohumeral Dystrophy (FSHD): a retrospective analysis
Open the record for dataset details and reuse information.
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.