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| Status |
Public on May 20, 2010 |
| Title |
Global Gene Expression Profiles in Cultured Skin Fibroblasts Derived from Patients with Gaucher Disease |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
This work presents the discovery of genes that are dysregulated in patients with Type I and Type III Gaucher Disease. It provides insight into the unique pathogenesis of these phenotypes, improved diagnostic accuracy and potential novel therapies for these patients.
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| Overall design |
Control and patient fibroblast cultures were established from full-thickness, skin biopsies obtained under a protocol approved by the IRB of the National Institute of Neurological Disorders and Stroke. Patient cultures were homoallelic for either the N370S mutation (non-neuronopathic, Gaucher Disease Type I, n=5), the L444P mutation (neuronopathic, Gaucher Disease Type III, n=5), or Wild-Type (Control, n=4).
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| Contributor(s) |
Johnson KR, Brady RO |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
May 19, 2010 |
| Last update date |
Dec 06, 2018 |
| Contact name |
Kory R Johnson |
| E-mail(s) |
johnsonko@ninds.nih.gov
|
| Phone |
301-402-1956
|
| Organization name |
NINDS/NIH
|
| Department |
DIR IT & Bioinformatics
|
| Lab |
Bioinformatics Section
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| Street address |
10/3B01, 9000 Rockville Pike
|
| City |
Bethesda |
| State/province |
MD |
| ZIP/Postal code |
20892 |
| Country |
USA |
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| Platforms (1) |
| GPL571 |
[HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array |
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| Samples (14)
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| Relations |
| BioProject |
PRJNA126861 |
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