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Embryonic DNA damage, e.g. resulting from exposure to moderate and high doses of ionizing radiation, has important consequences on the normal neurodevelopment, often resulting in microcephaly that can be associated with seizures. The effects of prenatal radiation exposure have previously been invest...
ORGANISM(S): Mus musculus 
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 mechanis...
ORGANISM(S): Homo sapiens 
The objective of this study is to study the Toll-like receptor 3 (TLR3)-dependent gene expression in human fibroblast cells and peripheral blood mononuclear cells (PBMCs) Fibroblast cells and PBMCs from donors with autosomal recessive (AR) complete TLR3 deficiency and autosomal dominant (AD) partial...
ORGANISM(S): Homo sapiens 
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