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167 results for “myotonic dystrophy”
Data set fromthe article Voellenkle C, Perfetti A, Carrara M, Fuschi P, Renna LV, Longo M, Sain SB, Cardani R, Valaperta R, Silvestri G, Legnini I, Bozzoni I, Furling D, Gaetano C, Falcone G, Meola G, Martelli F. Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. Int J Mol Sci. 2019 Apr 19;20(8):1938. doi: 10.3390/ijms20081938. PMID: 31010208; PMCID: PMC6515344.
<p>Data set from the article Voellenkle C, Perfetti A, Carrara M, Fuschi P, Renna LV, Longo M, Sain SB, Cardani R, Valaperta R, Silvestri G, Legnini I, Bozzoni I, Furling D, Gaetano C, Falcone G, Meola G, Martelli F. Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. Int J Mol Sci. 2019 Apr 19;20(8):1938. doi: 10.3390/ijms20081938. PMID: 31010208; PMCID: PMC6515344.</p> <p>This is the abstract:</p> <p>Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. CircRNAs are generated by "back-splicing", which is the linking covalently of 3'- and 5'-ends of exons. Thus, circRNA levels might be deregulated in conditions associated with altered RNA-splicing. Significantly, growing evidence indicates their role in human diseases. Specifically, myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by expanded CTG repeats in the <em>DMPK</em> gene which results in abnormal mRNA-splicing. In this investigation, circRNAs expressed in DM1 skeletal muscles were identified by analyzing RNA-sequencing data-sets followed by qPCR validation. In muscle biopsies, out of nine tested, four transcripts showed an increased circular fraction: CDYL, HIPK3, RTN4_03, and ZNF609. Their circular fraction values correlated with skeletal muscle strength and with splicing biomarkers of disease severity, and displayed higher values in more severely affected patients. Moreover, Receiver-Operating-Characteristics curves of these four circRNAs discriminated DM1 patients from controls. The identified circRNAs were also detectable in peripheral-blood-mononuclear-cells (PBMCs) and the plasma of DM1 patients, but they were not regulated significantly. Finally, increased circular fractions of RTN4_03 and ZNF609 were also observed in differentiated myogenic cell lines derived from DM1 patients. In conclusion, this pilot study identified circRNA dysregulation in DM1 patients.</p>
Climbing Assay Videos of Drosophila melanogaster DM1 models for Supplementary of project titled "Studying the role of a modifier to suppress Myotonic Dystrophy 1 in the Drosophila melanogaster model"
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Larval Crawling Assay videos of Drosophila melanogaster DM1 models for Supplementary of project titled "Studying the role of a modifier to suppress Myotonic Dystrophy 1 in the Drosophila melanogaster model"
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Rare Disease: Cardiac Risk Assessment With MRI in Patients With Myotonic Dystrophy Type 1
<p>Dataset from the article Alì M, Monti CB, Melazzini L, Cardani R, Fossati B, Cavalli M, Chow K, Secchi F, Meola G, Sardanelli F. Rare Disease: Cardiac Risk Assessment With MRI in Patients With Myotonic Dystrophy Type 1. Front Neurol. 2020 Mar 19;11:192. doi: 10.3389/fneur.2020.00192. PMID: 32265828; PMCID: PMC7098463.</p> <p>Abstract</p> <p><strong>Introduction:</strong> To evaluate myocardial strain and extracellular volume in myotonic dystrophy type 1 (DM1) patients as potential imaging biomarkers of subclinical cardiac pathology. <strong>Materials and methods:</strong> We retrospectively analyzed 9 DM1 patients without apparent cardiac disease who had undergone cardiac magnetic resonance at our center. Patients were age- and sex-matched with healthy controls. The Mann-Whitney U test was used to compare cardiac strain between the two groups. The <em>t</em>-test was used to compare the extracellular volume obtained in DM1 patients with that in healthy subject. Spearman's ρ was used for studying the associations among imaging parameters. <strong>Results:</strong> Global cardiac strain (median -19.1%; IQR -20.5%, -16.5%) in DM1 patients was lower (<em>p</em> = 0.011) than that in controls (median-21.7%; IQR-22.7%,-21.3%). Global extracellular volume in DM1 patients (median 32.3%; IQR 29.3%,36.8%) was significantly (<em>p</em> = 0.008) higher than that reported in literature in healthy subjects (median 25.6%; IQR 19.9%,31.9%). Global cardiac strain showed a strong, positive correlation with septal strain (ρ = 0.767, <em>p</em> = 0.016) and with both global (ρ = 0.733 <em>p</em> = 0.025) and septal extracellular volume (ρ = 0.767, <em>p</em> = 0.016). <strong>Discussion:</strong> The increase in cardiac extracellular volume and decrease in strain are signs of early cardiac pathology in DM1. Physicians dealing with DM1 may take into consideration cardiac magnetic resonance as a screening tool to identify early cardiac involvement in this condition.</p>
MEG3 Upregulation in Myotonic Dystrophy and Its Correction by Antisense Conjugates Targeting Disease-Causing Mutations [mRNA-seq]
GEO Series GSE262163. Homo sapiens. 24 samples. Type: Expression profiling by high throughput sequencing.
Data Set from Renna LV, Bosè F, Brigonzi E, Fossati B, Meola G, Cardani R. Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. PLoS One. 2019 Mar 22;14(3):e0214254. doi: 10.1371/journal.pone.0214254. PMID: 30901379; PMCID: PMC6430513.
<p>Data Set from Renna LV, Bosè F, Brigonzi E, Fossati B, Meola G, Cardani R. Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. PLoS One. 2019 Mar 22;14(3):e0214254. doi: 10.1371/journal.pone.0214254. PMID: 30901379; PMCID: PMC6430513.</p> <p> </p> <p>This is the abstact:</p> <p>Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant multisystemic disorders linked to two different genetic loci and characterized by several features including myotonia, muscle atrophy and insulin resistance. The aberrant alternative splicing of insulin receptor (IR) gene and post-receptor signalling abnormalities have been associated with insulin resistance, however the precise molecular defects that cause metabolic dysfunctions are still unknown. Thus, the aims of this study were to investigate in DM skeletal muscle biopsies if beyond INSR missplicing, altered IR protein expression could play a role in insulin resistance and to verify if the lack of insulin pathway activation could contribute to skeletal muscle wasting. Our analysis showed that DM skeletal muscle exhibits a lower expression of the insulin receptor in type 1 fibers which can contribute to the defective activation of the insulin pathway. Moreover, the aberrant insulin signalling activation leads to a lower activation of mTOR and to an increase in MuRF1 and Atrogin-1/MAFbx expression, possible explaining DM skeletal muscle fiber atrophy. Taken together our data indicate that the defective insulin signalling activation can contribute to skeletal muscle features in DM patients and are probably linked to an aberrant specific-fiber type expression of the insulin receptor.</p>
Data set from Bosè F, Renna LV, Fossati B, Arpa G, Labate V, Milani V, Botta A, Micaglio E, Meola G, Cardani R. TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2. Front Neurol. 2019 Sep 27;10:992. doi: 10.3389/fneur.2019.00992. PMID: 31611837; PMCID: PMC6776629.
<p>Data set from Bosè F, Renna LV, Fossati B, Arpa G, Labate V, Milani V, Botta A, Micaglio E, Meola G, Cardani R. TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2. Front Neurol. 2019 Sep 27;10:992. doi: 10.3389/fneur.2019.00992. PMID: 31611837; PMCID: PMC6776629.</p> <p> </p> <p>This is the abstract:</p> <p> </p> <p>Cardiac involvement is one of the most important manifestations of the multisystemic phenotype of patients affected by myotonic dystrophy (DM) and represents the second cause of premature death. Molecular mechanisms responsible for DM cardiac defects are still unclear; however, missplicing of the cardiac isoform of troponin T (<em>TNNT2</em>) and of the cardiac sodium channel (<em>SCN5A</em>) genes might contribute to the reduced myocardial function and conduction abnormalities seen in DM patients. Since, in DM skeletal muscle, the <em>TNNT2</em> gene shows the same aberrant splicing pattern observed in cardiac muscle, the principal aim of this work was to verify if the <em>TNNT2</em> aberrant fetal isoform expression could be secondary to myopathic changes or could reflect the DM cardiac phenotype. Analysis of alternative splicing of <em>TNNT2</em> and of several genes involved in DM pathology has been performed on muscle biopsies from patients affected by DM type 1 (DM1) or type 2 (DM2) with or without cardiac involvement. Our analysis shows that missplicing of muscle-specific genes is higher in DM1 and DM2 than in regenerating control muscles, indicating that these missplicing could be effectively important in DM skeletal muscle pathology. When considering the <em>TNNT2</em> gene, missplicing appears to be more evident in DM1 than in DM2 muscles since, in DM2, the <em>TNNT2</em> fetal isoform appears to be less expressed than the adult isoform. This evidence does not seem to be related to less severe muscle histopathological alterations that appear to be similar in DM1 and DM2 muscles. These results seem to indicate that the more severe <em>TNNT2</em> missplicing observed in DM1 could not be related only to myopathic changes but could reflect the more severe general phenotype compared to DM2, including cardiac problems that appear to be more severe and frequent in DM1 than in DM2 patients. Moreover, <em>TNNT2</em> missplicing significantly correlates with the QRS cardiac parameter in DM1 but not in DM2 patients, indicating that this splicing event has good potential to function as a biomarker of DM1 severity and it should be considered in pharmacological clinical trials to monitor the possible effects of different therapeutic approaches on skeletal muscle tissues.</p> <p><strong>Keywords: </strong> alternative splicing; cardiac involvement; cardiac troponin T; myotonic dystrophies; skeletal muscle.</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)
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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.