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| Status |
Public on Sep 19, 2012 |
| Title |
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. In order to develop mRNA-based biomarkers of affected muscles, we used GeneChip Gene 1.0 ST arrays for global analysis of gene expression in muscle biopsy specimens obtained from FSHD subjects and their unaffected first degree relatives.
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| Overall design |
FSHD typically affects biceps muscles more severely than deltoid muscles. To examine muscle-specific expression changes associated with FSHD while controlling for background genetic variation, we analyzed RNA extracted from both biceps and deltoids of FSHD subjects and unaffected first-degree relatives.
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| Contributor(s) |
Rahimov F |
| Citation(s) |
22988124 |
| Submission date |
Mar 09, 2012 |
| Last update date |
Jul 26, 2018 |
| Contact name |
Fedik Rahimov |
| E-mail(s) |
frahimov@enders.tch.harvard.edu
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| Phone |
617-355-4042
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| Fax |
617-730-0253
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| Organization name |
Boston Children's Hospital
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| Department |
Genetics
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| Lab |
Kunkel
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| Street address |
3 Blackfan Circle, CLS 15030.4
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| City |
Boston |
| State/province |
MA |
| ZIP/Postal code |
02115 |
| Country |
USA |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (50)
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| GSM892341 |
Deltoid, FSHD, cohort 03, subject 03A |
| GSM892342 |
Biceps, FSHD, cohort 03, subject 03A |
| GSM892343 |
Deltoid, control, cohort 03, subject 03U |
| GSM892344 |
Biceps, control, cohort 03, subject 03U |
| GSM892345 |
Biceps, FSHD, cohort 07, subject 07A |
| GSM892346 |
Deltoid, FSHD, cohort 07, subject 07A |
| GSM892347 |
Biceps, control, cohort 07, subject 07U |
| GSM892348 |
Deltoid, control, cohort 07, subject 07U |
| GSM892349 |
Biceps, FSHD, cohort 09, subject 09A |
| GSM892350 |
Deltoid, FSHD, cohort 09, subject 09A |
| GSM892351 |
Biceps, control, cohort 09, subject 09U |
| GSM892352 |
Deltoid, control, cohort 09, subject 09U |
| GSM892353 |
Biceps, FSHD, cohort 12, subject 12A |
| GSM892354 |
Deltoid, FSHD, cohort 12, subject 12A |
| GSM892355 |
Biceps, FSHD, cohort 12, subject 12B |
| GSM892356 |
Deltoid, FSHD, cohort 12, subject 12B |
| GSM892357 |
Biceps, control, cohort 12, subject 12U |
| GSM892358 |
Deltoid, control, cohort 12, subject 12U |
| GSM892359 |
Biceps, control, cohort 12, subject 12V |
| GSM892360 |
Deltoid, control, cohort 12, subject 12V |
| GSM892361 |
Biceps, FSHD, cohort 13, subject 13B |
| GSM892362 |
Deltoid, FSHD, cohort 13, subject 13B |
| GSM892363 |
Biceps, control, cohort 13, subject 13U |
| GSM892364 |
Deltoid, control, cohort 13, subject 13U |
| GSM892365 |
Biceps, FSHD, cohort 18, subject 18A |
| GSM892366 |
Deltoid, FSHD, cohort 18, subject 18A |
| GSM892367 |
Biceps, control, cohort 18, subject 18U |
| GSM892368 |
Deltoid, control, cohort 18, subject 18U |
| GSM892369 |
Biceps, FSHD, cohort 19, subject 19A |
| GSM892370 |
Deltoid, FSHD, cohort 19, subject 19A |
| GSM892371 |
Biceps, control, cohort 19, subject 19U |
| GSM892372 |
Deltoid, control, cohort 19, subject 19U |
| GSM892373 |
Biceps, FSHD, cohort 15, subject 15A |
| GSM892374 |
Deltoid, FSHD, cohort 15, subject 15A |
| GSM892375 |
Biceps, control, cohort 15, subject 15V |
| GSM892376 |
Deltoid, control, cohort 15, subject 15V |
| GSM892377 |
Biceps, FSHD, cohort 20, subject 20A |
| GSM892378 |
Deltoid, FSHD, cohort 20, subject 20A |
| GSM892379 |
Biceps, control, cohort 20, subject 20U |
| GSM892380 |
Deltoid, control, cohort 20, subject 20U |
| GSM892381 |
Biceps, FSHD, cohort 21, subject 21A |
| GSM892382 |
Deltoid, FSHD, cohort 21, subject 21A |
| GSM892383 |
Biceps, FSHD, cohort 21, subject 21B |
| GSM892384 |
Deltoid, FSHD, cohort 21, subject 21B |
| GSM892385 |
Biceps, control, cohort 21, subject 21U |
| GSM892386 |
Deltoid, control, cohort 21, subject 21U |
| GSM892387 |
Biceps, FSHD, cohort 22, subject 22A |
| GSM892388 |
Deltoid, FSHD, cohort 22, subject 22A |
| GSM892389 |
Biceps, control, cohort 22, subject 22U |
| GSM892390 |
Deltoid, control, cohort 22, subject 22U |
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| Relations |
| BioProject |
PRJNA153289 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE36398_RAW.tar |
205.3 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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