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| Status |
Public on Jun 02, 2009 |
| Title |
Cystic leukoencephalopathy without megalencephaly |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
The cystic leukoencephalopathy without megalencephaly has been defined as distinct autosomal-recessive syndrome of quasi-static encephalopathy with normo- or microcephaly, impaired psychomotor development and characteristic pattern on brain MRI. We identified mutations in the gene encoding the RNASET2 glycoprotein in seven affected individuals as the cause of disease. The results suggest that RNASET2 plays an important role in central nervous system myelination and development.
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| Overall design |
2-Color dye swap design independent for two different families including technical and biologial replicates for affected family members (disease) and not affected family members (controls).
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| Contributor(s) |
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschuetter A, Kraetzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rueschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nuernberg P, Gaertner J |
| Citation(s) |
19525954 |
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| Submission date |
Jul 02, 2008 |
| Last update date |
Jan 18, 2013 |
| Contact name |
Gabriela Salinas |
| E-mail(s) |
Gabriela.Salinas-Riester@medizin.uni-goettingen.de
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| Organization name |
Universitaetsmedizin Goettingen
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| Department |
Department of Pathology
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| Lab |
NGS Integrative Genomics
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| Street address |
Kreuzbergring 57
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| City |
Goettingen |
| State/province |
Lower-Saxony |
| ZIP/Postal code |
37075 |
| Country |
Germany |
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| Platforms (1) |
| GPL7002 |
Custom Human Agilent Array 11k, Chromosome 6, Expression |
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| Samples (24)
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| GSM302307 |
Lymphoblasts ALD vs. control fam1 rep1 |
| GSM302308 |
Lymphoblasts ALD vs. control fam1 rep2 |
| GSM302341 |
Lymphoblasts ALD vs. control fam1 rep3 |
| GSM302342 |
Lymphoblasts ALD vs. control fam1 rep4 |
| GSM302343 |
Lymphoblasts ALD vs. control fam1 rep5 |
| GSM302344 |
Lymphoblasts ALD vs. control fam1 rep6 |
| GSM302345 |
Lymphoblasts ALD vs. control fam1 rep7 |
| GSM302346 |
Lymphoblasts ALD vs. control fam1 rep8 |
| GSM302374 |
Lymphoblasts ALD vs. control fam5 rep1 |
| GSM302376 |
Lymphoblasts ALD vs. control fam5 rep2 |
| GSM302378 |
Lymphoblasts ALD vs. control fam5 rep3 |
| GSM302379 |
Lymphoblasts ALD vs. control fam5 rep4 |
| GSM302380 |
Lymphoblasts ALD vs. control fam5 rep5 |
| GSM302381 |
Lymphoblasts ALD vs. control fam5 rep6 |
| GSM302382 |
Lymphoblasts ALD vs. control fam5 rep7 |
| GSM302383 |
Lymphoblasts ALD vs. control fam5 rep8 |
| GSM302384 |
Lymphoblasts ALD vs. control fam5 rep9 |
| GSM302385 |
Lymphoblasts ALD vs. control fam5 rep10 |
| GSM302820 |
Lymphoblasts ALD vs. control fam5 rep11 |
| GSM302822 |
Lymphoblasts ALD vs. control fam5 rep12 |
| GSM302841 |
Lymphoblasts ALD vs. control fam5 rep13 |
| GSM302844 |
Lymphoblasts ALD vs. control fam5 rep14 |
| GSM302846 |
Lymphoblasts ALD vs. control fam5 rep15 |
| GSM302849 |
Lymphoblasts ALD vs. control fam5 rep16 |
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| Relations |
| BioProject |
PRJNA105833 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE11964_RAW.tar |
48.0 Mb |
(http)(custom) |
TAR (of XML) |
| Processed data included within Sample table |
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