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13 results for “SCN5A;”

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geo24/100

Effect of SCN5A depletion on gene expression in xenograft tumours of MDA-MB-231 breast cancer cells

GEO Series GSE228621. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenSep 2024View details →
geo24/100

Gene expression analysis of cardiac left-ventricle tissue from hybrid mice harboring the Scn5a-1798insD/+ mutation

GEO Series GSE27236. Mus musculus. 120 samples. Type: Expression profiling by array.

openGEO-OpenDec 2012View details →
geo24/100

miR-452-5p mediates SCN5A dependent fibrosis via TGF-beta/SMAD4 axis

GEO Series GSE261598. Homo sapiens. 4 samples. Type: Non-coding RNA profiling by high throughput sequencing.

openGEO-OpenJun 2024View details →
geo24/100

Maturation of hiPSC-derived cardiomyocytes in tri-cellular cardiac microtissues promotes adult alternative splicing of SCN5A revealing effects of mutations in cardiac disease   

GEO Series GSE180290. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenMay 2023View details →
ClinicalTrials.gov24/100

Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A

ClinicalTrials.gov study NCT05274646. IPD Sharing: NO. Countries: 1. Publications: 0.

closedIPD-NOFeb 2026View details →
geo24/100

Genetic background effect on Scn5a mutant cardiac right ventricle gene expression

GEO Series GSE19741. Mus musculus. 12 samples. Type: Expression profiling by array.

openGEO-OpenJan 2010View details →
geo20/100

An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo

GEO Series GSE129067. Mus musculus. 24 samples. Type: Expression profiling by high throughput sequencing; Other.

openGEO-OpenOct 2019View details →
geo20/100

An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo (RNA-Seq)

GEO Series GSE123440. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenOct 2019View details →
geo20/100

An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo (Hi-C)

GEO Series GSE129062. Mus musculus. 18 samples. Type: Other.

openGEO-OpenOct 2019View details →
geo20/100

A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

GEO Series GSE264359. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenJan 2025View details →
geo16/100

Voltage-gated Sodium Channel SCN5A Promotes Tumor Progression and Enhances Chemosensitivity to 5-Fluorouracil in Colorectal Cancer

GEO Series GSE150134. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenMay 2020View details →
geo16/100

MULTIPLE SCN5A ENHANCERS MODULATE CARDIAC GENE EXPRESSION AND QT INTERVAL VARIATION

GEO Series GSE109716. Homo sapiens; Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.

openGEO-OpenApr 2019View details →
zenodo12/100

Data set from Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants. Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186. PMID: 31292628.

<p>Data set from Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Cris&agrave; S, Vecchi M, Borrelli V, Ghiroldi A, D&#39;Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants. Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186. PMID: 31292628.</p> <p>&nbsp;</p> <p>This is the abstract:</p> <p><strong>Aims:&nbsp;</strong>The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres.</p> <p><strong>Methods and results:&nbsp;</strong>Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants.</p> <p><strong>Conclusion:&nbsp;</strong>Future studies are warranted to further characterize the role of these specific SCN10A variants.</p> <p>&nbsp;</p>

restrictedSep 2020View details →

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International Brain Laboratory public data

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OpenNeuro

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