Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

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Gene expression profiling in tibial muscular dystrophy and control skeletal muscle


ABSTRACT: 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. 5 muscle samples from 2 normal control subjects and muscle samples from 7 TMD subjects.

ORGANISM(S): Homo sapiens

SUBMITTER: Mark Screen 

PROVIDER: E-GEOD-42806 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

Screen Mark M   Raheem Olayinka O   Holmlund-Hampf Jeanette J   Jonson Per Harald PH   Huovinen Sanna S   Hackman Peter P   Udd Bjarne B  

PloS one 20140311 3


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. In this study we examined the mRNA and protein changes associated with the myopathology of TMD. To identify these components we performed gene expression profiling using muscle biopsies from TMD patients and healthy  ...[more]

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