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TranscriptomicsTranscription profiling of human leg muscle subjected to different exercise regimens
The study has been described in the following paper: Gianni Parise, Stuart M. Phillips, Jan J. Kaczor and Mark A. Tarnopolsky (2005). Antioxidant enzyme activity is up-regulated after unilateral resistance exercise training in older adults. Free Radical Biology and Medicine, Volume 39, Issue 2, 15 ...
ORGANISM(S): Homo sapiens 
2007-06-07 | E-MEXP-740 | biostudies-arrayexpress
TranscriptomicsLimb immobilization induces a coordinate down-regulation of mitochondrial and other metabolic pathways in men and women
Advancements in animal models and cell culture techniques have been invaluable in the elucidation of molecular events and mechanisms regulating muscle atrophy. However, few studies have examined muscle atrophy in humans using modern experimental techniques. The purpose of this study was to examine a...
ORGANISM(S): Homo sapiens 
2009-02-21 | E-GEOD-14901 | biostudies-arrayexpress
TranscriptomicsEccentric exercise activates novel transcriptional regulation of hypertrophic signaling pathways
Full title: Eccentric exercise activates novel transcriptional regulation of hypertrophic signaling pathways not affected by hormone changes. Unaccustomed eccentric exercise damages muscle tissue stimulating mechanisms of recovery and remodeling that may be affected by cellular protection by the sex...
ORGANISM(S): Homo sapiens 
2009-12-16 | E-GEOD-19062 | biostudies-arrayexpress
TranscriptomicsTranscriptome and translational signaling following endurance exercise in trained skeletal muscle: impact of dietary protein
Impact of protein ingestion following 1 h intense cycling on the induced transcriptome and signaling in biopsy samples from endurance-trained men, relative to isocaloric control Single blind, randomized, crossover design comprising two experimental blocks. During the blocks, exercise and diet were c...
ORGANISM(S): Homo sapiens 
2011-11-21 | E-GEOD-27285 | biostudies-arrayexpress
UnknownSevere neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Not available
S-EPMC6481655 | biostudies-literature
TranscriptomicsGenome wide DNA methylation changes with age in disease free human skeletal muscle
A decline in skeletal muscle mass and function with aging is well recognized, but remains poorly characterized at the molecular level. Here we report for the first time a genome-wide study of DNA methylation dynamics in skeletal muscle of healthy male individuals during normal human aging. We predom...
ORGANISM(S): Homo sapiens 
2013-12-03 | E-GEOD-50498 | biostudies-arrayexpress
TranscriptomicsExercise-induced mitochondrial translocation of p53 repairs mitochondrial DNA mutations
Exercise is a fundamental component of human health that is associated with greater life expectancy and reduced risk of chronic diseases. While the beneficial effects of endurance exercise on human health are well established, the molecular mechanisms responsible for these observations remain unclea...
ORGANISM(S): Mus musculus 
2015-12-11 | E-GEOD-75869 | biostudies-arrayexpress
GenomicNAMDC Patient Registry and Biorepository

Mitochondrial diseases are caused by dysfunction of the mitochondria, which are specialized compartments that are present in every cell of the body except red blood cells. Mitochondria generate more than 90% of the energy that the body needs to sustain life and support growth. When they fail, les...

phs001538 | dbGaP
UnknownProximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Not available
S-EPMC3376272 | biostudies-literature
UnknownComprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
Not available
S-SCDT-10_1038-S44321-026-00497-3 | biostudies-other
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