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| Status |
Public on Mar 11, 2014 |
| Title |
Gene expression profiling in tibial muscular dystrophy and control skeletal muscle |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscle cells in TMD is largely unknown. To identify these components, we used gene expression profiling of muscle biopsies from TMD patients and healthy controls.
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| Overall design |
5 muscle samples from 2 normal control subjects and muscle samples from 7 TMD subjects.
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| Contributor(s) |
Screen M, Jonson P |
| Citation(s) |
24618559 |
| Submission date |
Dec 07, 2012 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Mark Andrew Screen |
| E-mail(s) |
mark.screen@helsinki.fi
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| Organization name |
Folkhälsan Institute of Genetics, University of Helsinki
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| Department |
Dpt. of Medical Genetics
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| Lab |
Neuromuscular disorders
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| Street address |
Biomedicum1, Haartmaninkatu 8
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| City |
Helsinki |
| ZIP/Postal code |
FI-00290 |
| Country |
Finland |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (12)
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| Relations |
| BioProject |
PRJNA183350 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE42806_RAW.tar |
56.6 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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