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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity, and failure of which results in the triggering of an abnormal innate immune response.
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
It is shown that AGS can result from mutations in the genes encoding any one of its three subunits, demonstrating a role for ribonuclease H in human neurological disease and suggesting an unanticipated relationship between ribonUClease H2 and the antiviral immune response that warrants further investigation.
Null mutations in LTBP2 cause primary congenital glaucoma.
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
- R. Collin, K. Nikopoulos, F. Cremers
- BiologyProceedings of the National Academy of Sciences
- 28 May 2013
The data strongly suggest that mutant ZNF408 results in abnormal retinal vasculogenesis in humans and is associated with FEVR.
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
This study illustrates the differences in phenotype, for both the anterior and posterior segments, seen between patients with identical or different mutations in the LCA genes and suggests that at least some of the phenotypic variation is age dependent.
CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration
Preliminary evidence is reported suggesting that the higher AMD risk genotypes in CFH, VEGF and HTRA1 may influence the short-term response to treatment with ranibizumab for neovascular AMD.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.