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Table 1 Functional analysis results of GRMD-induced gene alterations

From: GRMD cardiac and skeletal muscle metabolism gene profiles are distinct

GO Biological Process/Pathway MHG at 6 m LV at 6 m
No NES p val No NES p val
Actin filament organization 36 1.91 0.001 -
Regulation of extrinsic apoptotic pathway 37 1.70 0.001 -
Regulation of cytoskeleton organization 31 1.79 0.0021 -
ECM disassembly 20 1.78 0.0064 -
Endothelial cell differentiation 15 1.77 0.0078 -
Regulation of actin filament organization 57 1.64 0.0081 -
Protein localization to organelle 55 1.58 0.006 -
Inflammatory response 100 1.55 0.002 -
Stem cell differentiation 24 1.54 0.0305 -
Positive regulation of cell-substrate adhesion 24 1.54 0.0369 -
Regulation of ion homeostasis 32 1.52 0.0327 -
Immune system process 369 1.50 0.001 -
Endocytosis 111 1.50 0.006 -
Regeneration 36 1.50 0.0369 -
Muscle structure development 51 1.46 0.0433 -
Regulation of cell-cell adhesion 74 1.45 0.025 -
Angiogenesis 58 1.44 0.0351 -
Cell motility 167 1.43 0.008 -
Regulation of cell proliferation 233 1.39 0.012 19 ns
Regulation of cell differentiation 206 1.38 0.013 20 ns
Cellular macromolecule localization 149 1.35 0.028 -
Oxidation reduction 98 −2.82 0.001 16 ns
Carboxylic acid catabolism 29 −2.58 0.001 -
Generation of precursor metabolites and energy 45 −2.45 0.001 -
Cellular respiration 24 −2.44 0.001 -
Mitochondrion organization 73 −2.35 0.001 -
Organonitrogen compound metabolism 153 −2.24 0.001 28 ns
Coenzyme metabolism 39 −2.23 0.002 -
Small molecule metabolism 176 −2.20 0.001 30 ns
Catabolic process 142 −2.18 0.001 19 ns
Hexose metabolism 22 −2.12 0.0042 -
Glucose metabolism 21 −2.05 0.0058 -
Regulation of ketone metabolism 26 −2.05 0.002 -
Cofactor metabolism 46 −1.93 0.0038 -
Macroautophagy 27 −1.93 0.0039 -
Nitrogen compound transport 31 −1.93 0.0118 -
Protein ubiquitination 63 −1.88 0.0062 -
Organophosphate metabolism 84 −1.86 0.0117 -
Small molecule biosynthesis 48 −1.85 0.0096 -
NTP metabolism 21 −1.82 0.0081 -
Autophagy 33 −1.79 0.022 -
Cellular amino acid catabolism 21 −1.78 0.0135 -
Alpha amino acid catabolism 17 −1.74 0.0259 -
Macromolecule metabolism 60 −1.71 0.0279 -
Anion transmembrane transport 21 −1.63 0.041  
Carbohydrate metabolism 63 −1.62 0.0299 -
Acyl-CoA metabolism 18 −1.62 0.0433 -
Regulation of transport 120 ns 19 −2.11 0.001
  MHG at 12 m LV at 12 m
No NES p val No NES p val
DNA metabolism 18 1.80 0.0045 -
Lipid biosynthesis 15 1.66 0.0216 -
Cell projection organization 37 1.62 0.0249 -
Cellular response to stress 38 1.62 0.0227 -
Cell proliferation 19 1.53 0.0473 -
Regulation of cellular protein localization 22 1.53 0.0378 -
Regulation of organelle organization 33 1.50 0.041 -
Regulation of transport - 19 −1.76 0.013
  1. Functional analysis was performed using GSEA software, as detailed in the methods section. Positive and negative NES values respectively represent pathways enriched or down-regulated in GRMD animals compared to healthy counterparts. Nominal p values (p val) are shown, as are overlapping categories in skeletal (MHG) and left ventricular (LV) tissues for animals aged 6 months (6 m, top part of table) and 12 m (lowermost art of table). GO = gene ontology. No = number of differentially expressed genes in the category listed. NES = normalized (or relative) enrichment score. ns = not significant