GSM946875[Accession] - GEO DataSets

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Items: 3

Select item 2000386521.

In vitro responses of fibroblasts from patients with TBK1 deficiency after TLR3 dependent and independent stimuli

(Submitter supplied) We report here two unrelated HSE patients carrying different heterozygous mutations (D50A and G159A) in TBK1, the gene encoding TANK-binding kinase 1, a kinase at the crossroads of multiple IFN-inducing signaling pathways. Both mutant TBK1 alleles are loss-of-function, but through different mechanisms: protein instability (D50A) or a loss of kinase activity (G159A). Both are also associated with an autosomal dominant (AD) trait, but by different mechanisms: haplotype-insufficiency (D50A) or negative dominance (G159A). more...

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL10558
58 Samples

Download data: TXT

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Accession:: GSE38652

ID:: 200038652

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 1000105582.

Illumina HumanHT-12 V4.0 expression beadchip

(Submitter supplied) The HumanHT-12 v4 Expression BeadChip provides high throughput processing of 12 samples per BeadChip without the need for expensive, specialized automation. The BeadChip is designed to support flexible usage across a wide-spectrum of experiments. The updated content on the HumanHT-12 v4 Expression BeadChips provides more biologically meaningful results through genome-wide transcriptional coverage of well-characterized genes, gene candidates, and splice variants. more...