RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Authors:
Open Access
- 24 August 2021
- journal article
- research article
- Published by Elsevier in Human Genetics and Genomics Advances
- Vol. 3 (1) , 100054
Abstract
No abstract availableKeywords
Funding Information
- Limb Girdle Muscular Dystrophy 2I (GTB12001D)
- Sarepta Therapeutics
- European Commission (779257)
- Telethon Foundation
This publication has 66 references indexed in Scilit:
- Melanocytes—A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophyJournal of Cellular Physiology, 2012
- Generation of human induced pluripotent stem cells from urine samplesNature Protocols, 2012
- STAR: ultrafast universal RNA-seq alignerBioinformatics, 2012
- Measuring mitochondrial respiration in intact single muscle fibersAmerican Journal of Physiology-Regulatory, Integrative and Comparative Physiology, 2012
- Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractile apparatus organizationBMC Genomics, 2010
- edgeR: a Bioconductor package for differential expression analysis of digital gene expression dataBioinformatics, 2009
- Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral FunctionsPLOS ONE, 2009
- Exon skipping-mediated dystrophin reading frame restoration for small mutationsHuman Mutation, 2009
- Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptomsAmerican Journal of Medical Genetics Part A, 2009
- Identification of a Signaling Network in Lateral Nucleus of Amygdala Important for Inhibiting Memory Specifically Related to Learned FearCell, 2002