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| Status |
Public on Dec 31, 2010 |
| Title |
Gene expression profile of peripheral blood mononuclear cells in the X-linked alpha thalassemia mental retardation (ATRX) syndrome |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI/SNF DNA helicase family, a group of proteins involved in the regulation of gene transcription at the chromatin level. In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels of approximately 8500 transcripts between ATRX and normal males of comparable age.
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| Overall design |
The analysis has been performed on pooled RNA extracted by Peripheral blood mononuclear cell pellet of three male ATRX patients in comparison to that obtained from a pool of 42 normal males (age 7.6+ 2.4).
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| Contributor(s) |
Barresi V, Condorelli DF |
| Citation(s) |
20602808 |
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| Submission date |
May 27, 2010 |
| Last update date |
Mar 22, 2012 |
| Contact name |
Vincenza Barresi |
| E-mail(s) |
barregi@unict.it
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| Organization name |
University of Catania
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| Street address |
V.le A Doria, 6
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| City |
Catania |
| ZIP/Postal code |
95125 |
| Country |
Italy |
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| Platforms (1) |
| GPL10464 |
Incyte Genomics Human UniGene 1 9.1K Microarray |
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| Samples (1) |
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| Relations |
| BioProject |
PRJNA127455 |
| Supplementary data files not provided |
| Processed data included within Sample table |
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