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| Mendeliome v1.34 | TRIM47 | Zornitza Stark Marked gene: TRIM47 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.34 | TRIM47 | Zornitza Stark Gene: trim47 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.34 | TRIM47 |
Zornitza Stark gene: TRIM47 was added gene: TRIM47 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TRIM47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM47 were set to 35511193 Phenotypes for gene: TRIM47 were set to Genetic cerebral small vessel disease MONDO:0018787 Review for gene: TRIM47 was set to RED Added comment: GWAS data: Combined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. Observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-mediated knockdown in human brain endothelial cells showed increased endothelial permeability, an important hallmark of cerebral small vessel disease pathology. Sources: Literature |
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