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| Status |
Public on Sep 08, 2023 |
| Title |
Functional and molecular analysis of LMNA mutations related muscular dystrophy in zebrafish |
| Organism |
Danio rerio |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
LMNA mutations cause laminopathies, a group of rare genetic diseases with no known cure, only symptomatic treatment and supportive care. In this study, we characterized five LMNA mutations (LMNA(L35P), LMNA(A539V), LMNA(W520G), LMNA(E358K), and LMNA(R453W)) identified from patients diagnosed with muscular laminopathy in the zebrafish model.
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| Overall design |
We established transgenic fish overexpressing wild-type LMNA and each of the five LMNA mutants in the skeletal muscle and monitored swimming behavior, muscle endurance, and histopathological changes. We also used the LMNA zebrafish models for drug screening. Gene expression profiles of the muscle from the transgenic fish were studied through RNAseq.
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| Contributor(s) |
Pan S, Yuh C |
| Citation(s) |
38834813 |
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| Submission date |
Sep 04, 2023 |
| Last update date |
Jun 26, 2024 |
| Contact name |
Chiou Hwa Yuh |
| E-mail(s) |
chyun@nhri.edu.tw
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| Organization name |
National Health Research Institutes
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| Department |
Institute of Molecular and Genomic Medicine
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| Street address |
35, Keyan Road
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| City |
Zhunan |
| ZIP/Postal code |
350 |
| Country |
Taiwan |
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| Platforms (1) |
| GPL24995 |
Illumina NovaSeq 6000 (Danio rerio) |
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| Samples (11)
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| Relations |
| BioProject |
PRJNA1012699 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE242251_DESeq2_T9M_A_C9M_WT.xlsx |
4.4 Mb |
(ftp)(http) |
XLSX |
| GSE242251_DESeq2_T9M_E_C9M_WT.xlsx |
3.8 Mb |
(ftp)(http) |
XLSX |
| GSE242251_DESeq2_T9M_L_C9M_WT.xlsx |
4.3 Mb |
(ftp)(http) |
XLSX |
| GSE242251_DESeq2_T9M_R_C9M_WT.xlsx |
4.1 Mb |
(ftp)(http) |
XLSX |
| GSE242251_RAW.tar |
16.5 Mb |
(http)(custom) |
TAR (of TAB) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
| Processed data are available on Series record |
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