 |
 |
GEO help: Mouse over screen elements for information. |
|
| 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
|
| 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.
|
| |
|
| Overall design |
We performed transcriptomics on these three differently affected muscles in 16 male LGMD-R12 patients and 15 age-matched male controls.
|
| |
|
| Contributor(s) |
Claeys KG, Depuydt CE, Janky R |
| Citation(s) |
35563815 |
| |
| Submission date |
May 11, 2022 |
| Last update date |
May 16, 2022 |
| Contact name |
Rekin's Janky |
| E-mail(s) |
Nucleomics.Bioinformatics@vib.be
|
| Organization name |
VIB
|
| Department |
Nucleomics Core
|
| Street address |
Herestraat 49 Box 816
|
| City |
Leuven |
| ZIP/Postal code |
B-3000 |
| Country |
Belgium |
| |
|
| Platforms (1) |
| GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
| Samples (84)
|
| 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 |
|
| 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 |
|
|
|
|
 |
Less...
More...