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11 results for “LMNA Mutations”
A study of gene expression, structure, and contractility of iPSC-Derived Cardiac Myocytes from a family with heart disease due to LMNA mutation
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Data from: Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations
Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes. As a test case, cultured skin-fibroblast nuclei of individuals possessing LMNA splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon 6, Hutchinson-Gilford Progeria Syndrome, and no LMNA mutations were analyzed. For each cell type, the percentage of dysmorphic nuclei, and other morphological features such as average nuclear area and average eccentricity were obtained. Compared to blind observers, our procedure implemented in Matlab codes possessed similar accuracy to manual counting of dysmorphic nuclei while being significantly more consistent. The automatic quantification of nuclear defects revealed a correlation between in vitro results and age of patients for initial symptom onset. Our results demonstrate the method's utility in experimental studies of diseases affecting nuclear shape through automated, unbiased, and accurate identification of dysmorphic nuclei.
Data from: Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations
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Transcriptome analysis of C2C12 myoblasts with mutations in LMNA gene
GEO Series GSE150365. Mus musculus. 27 samples. Type: Expression profiling by high throughput sequencing.
Gene expression profile at single cell level of C2C12 myoblasts bearing human LMNA gene with mutations WT, R482L
GEO Series GSE260946. Mus musculus. 3 samples. Type: Expression profiling by high throughput sequencing.
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
GEO Series GSE8000. Mus musculus. 21 samples. Type: Expression profiling by array.
Simtuzumab attenuates Loxl2-mediated extracellular matrix remodeling and preserves cardiac function in LMNA mutation-induced dilated cardiomyopathy
GEO Series GSE312730. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Targeted gene correction of LMNA mutations in patient-specific iPSCs
GEO Series GSE28607. Homo sapiens. 10 samples. Type: Expression profiling by array.
Functional and molecular analysis of LMNA mutations related muscular dystrophy in zebrafish
GEO Series GSE242251. Danio rerio. 11 samples. Type: Expression profiling by high throughput sequencing.
High throughput sequencing of atypical progeria caused by LMNA R527C mutation
GEO Series GSE190200. Homo sapiens; Mus musculus. 19 samples. Type: Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing.
Impaired vitamin D signaling causes LMNA mutation-related cardiomyopathy
GEO Series GSE182219. Homo sapiens. 15 samples. Type: Expression profiling by high throughput sequencing.
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