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Status |
Public on May 13, 2022 |
Title |
RNA-seq study on muscles of LGMD-R12 patients and controls |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing
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Summary |
Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by two recessive mutations in the anoctamin-5 gene. Our main aim was to identify genes and pathways that underlie LGMD-R12 and explain differences in the molecular predisposition and susceptibility between three different thigh muscles that are severely (semimembranosus), moderately (vastus lateralis) or mildly (rectus femoris) affected in this disease.
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Overall design |
We performed transcriptomics on these three differently affected muscles in 16 male LGMD-R12 patients and 15 age-matched male controls.
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Contributor(s) |
Claeys KG, Depuydt CE, Janky R |
Citation(s) |
35563815 |
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Submission date |
May 11, 2022 |
Last update date |
May 16, 2022 |
Contact name |
Rekin's Janky |
E-mail(s) |
Nucleomics.Bioinformatics@vib.be
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Organization name |
VIB
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Department |
Nucleomics Core
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Street address |
Herestraat 49 Box 816
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City |
Leuven |
ZIP/Postal code |
B-3000 |
Country |
Belgium |
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Platforms (1) |
GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
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Samples (84)
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GSM6132081 |
Disease,semimembranosus muscle, patient 1 |
GSM6132082 |
Healthy,semimembranosus muscle, patient C1 |
GSM6132083 |
Healthy,vastus lateralis muscle, patient C1 |
GSM6132084 |
Healthy,rectus femoris muscle, patient C1 |
GSM6132085 |
Healthy,semimembranosus muscle, patient C2 |
GSM6132086 |
Healthy,vastus lateralis muscle, patient C2 |
GSM6132087 |
Healthy,rectus femoris muscle, patient C2 |
GSM6132088 |
Healthy,semimembranosus muscle, patient C3 |
GSM6132089 |
Healthy,vastus lateralis muscle, patient C3 |
GSM6132090 |
Healthy,rectus femoris muscle, patient C3 |
GSM6132091 |
Healthy,semimembranosus muscle, patient C4 |
GSM6132092 |
Healthy,vastus lateralis muscle, patient C4 |
GSM6132093 |
Healthy,rectus femoris muscle, patient C4 |
GSM6132094 |
Healthy,semimembranosus muscle, patient C5 |
GSM6132095 |
Healthy,vastus lateralis muscle, patient C5 |
GSM6132096 |
Healthy,rectus femoris muscle, patient C5 |
GSM6132097 |
Healthy,semimembranosus muscle, patient C6 |
GSM6132098 |
Healthy,rectus femoris muscle, patient C6 |
GSM6132099 |
Healthy,semimembranosus muscle, patient C7 |
GSM6132100 |
Healthy,vastus lateralis muscle, patient C7 |
GSM6132101 |
Healthy,rectus femoris muscle, patient C7 |
GSM6132102 |
Healthy,vastus lateralis muscle, patient C8 |
GSM6132103 |
Healthy,rectus femoris muscle, patient C8 |
GSM6132104 |
Healthy,semimembranosus muscle, patient C9 |
GSM6132105 |
Healthy,vastus lateralis muscle, patient C9 |
GSM6132106 |
Healthy,rectus femoris muscle, patient C9 |
GSM6132107 |
Healthy,semimembranosus muscle, patient C10 |
GSM6132108 |
Healthy,vastus lateralis muscle, patient C10 |
GSM6132109 |
Healthy,rectus femoris muscle, patient C10 |
GSM6132110 |
Healthy,semimembranosus muscle, patient C11 |
GSM6132111 |
Healthy,vastus lateralis muscle, patient C11 |
GSM6132112 |
Healthy,rectus femoris muscle, patient C11 |
GSM6132113 |
Healthy,semimembranosus muscle, patient C12 |
GSM6132114 |
Healthy,vastus lateralis muscle, patient C12 |
GSM6132115 |
Healthy,rectus femoris muscle, patient C12 |
GSM6132116 |
Healthy,semimembranosus muscle, patient C13 |
GSM6132117 |
Healthy,vastus lateralis muscle, patient C13 |
GSM6132118 |
Healthy,rectus femoris muscle, patient C13 |
GSM6132119 |
Healthy,semimembranosus muscle, patient C14 |
GSM6132120 |
Healthy,vastus lateralis muscle, patient C14 |
GSM6132121 |
Healthy,rectus femoris muscle, patient C14 |
GSM6132122 |
Healthy,semimembranosus muscle, patient C15 |
GSM6132123 |
Healthy,vastus lateralis muscle, patient C15 |
GSM6132124 |
Healthy,rectus femoris muscle, patient C15 |
GSM6132126 |
Disease,semimembranosus muscle, patient 2 |
GSM6132128 |
Disease,rectus femoris muscle, patient 2 |
GSM6132130 |
Disease,vastus lateralis muscle, patient 2 |
GSM6132132 |
Disease,semimembranosus muscle, patient 3 |
GSM6132134 |
Disease,vastus lateralis muscle, patient 3 |
GSM6132136 |
Disease,rectus femoris muscle, patient 3 |
GSM6132138 |
Disease,vastus lateralis muscle, patient 1 |
GSM6132139 |
Disease,rectus femoris muscle, patient 1 |
GSM6132141 |
Disease,semimembranosus muscle, patient 4 |
GSM6132143 |
Disease,vastus lateralis muscle, patient 4 |
GSM6132145 |
Disease,rectus femoris muscle, patient 4 |
GSM6132147 |
Disease,semimembranosus muscle, patient 5 |
GSM6132149 |
Disease,vastus lateralis muscle, patient 5 |
GSM6132151 |
Disease,rectus femoris muscle, patient 5 |
GSM6132153 |
Disease,vastus lateralis muscle, patient 6 |
GSM6132154 |
Disease,rectus femoris muscle, patient 6 |
GSM6132156 |
Disease,vastus lateralis muscle, patient 7 |
GSM6132158 |
Disease,rectus femoris muscle, patient 7 |
GSM6132160 |
Disease,semimembranosus muscle, patient 8 |
GSM6132161 |
Disease,rectus femoris muscle, patient 8 |
GSM6132162 |
Disease,semimembranosus muscle, patient 9 |
GSM6132163 |
Disease,vastus lateralis muscle, patient 9 |
GSM6132164 |
Disease,rectus femoris muscle, patient 9 |
GSM6132165 |
Disease,semimembranosus muscle, patient 10 |
GSM6132166 |
Disease,vastus lateralis muscle, patient 10 |
GSM6132167 |
Disease,rectus femoris muscle, patient 10 |
GSM6132168 |
Disease,semimembranosus muscle, patient 11 |
GSM6132169 |
Disease,vastus lateralis muscle, patient 11 |
GSM6132170 |
Disease,rectus femoris muscle, patient 11 |
GSM6132171 |
Disease,semimembranosus muscle, patient 12 |
GSM6132172 |
Disease,vastus lateralis muscle, patient 12 |
GSM6132173 |
Disease,semimembranosus muscle, patient 13 |
GSM6132174 |
Disease,vastus lateralis muscle, patient 13 |
GSM6132175 |
Disease,rectus femoris muscle, patient 13 |
GSM6132176 |
Disease,semimembranosus muscle, patient 14 |
GSM6132177 |
Disease,vastus lateralis muscle, patient 14 |
GSM6132178 |
Disease,rectus femoris muscle, patient 14 |
GSM6132179 |
Disease,semimembranosus muscle, patient 15 |
GSM6132180 |
Disease,vastus lateralis muscle, patient 15 |
GSM6132181 |
Disease,rectus femoris muscle, patient 15 |
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Relations |
BioProject |
PRJNA837196 |
Supplementary file |
Size |
Download |
File type/resource |
GSE202745_exp3105-x2-switched-RawCountsTable.txt.gz |
5.7 Mb |
(ftp)(http) |
TXT |
SRA Run Selector |
Raw data are available in SRA |
Processed data are available on Series record |
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