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- Kidney disease genetic risk variants alter lysosomal beta-mannosidase . . .
Here, we provide evidence that beta-mannosidase (MANBA) is a third kidney disease risk gene by computational integration of GWAS and eQTL studies, phenotype analysis of cohorts with exome sequencing, and mechanistic experiments using genetic knockout mice and cells
- Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with . . .
With respect to one of the target genes, lysosomal beta A mannosidase (MANBA), we observed that genetic variants associated with MANBA expression in the kidney showed statistically significant colocalization with variants identified in CKD GWASs, indicating that MANBA is a potential target gene for CKD
- Associations between genetic risk variants for kidney diseases and . . .
Shared genetic associations across CKD etiologies and stages highlight the role of the immune response in CKD Association studies with detailed information on CKD etiology can reveal shared genetic risk variants
- gENETICS Biomarker genetics MANBA is a kidney disease risk gene - Nature
encodes beta- mannosidase, as a kidney disease severity gene “Genome- wide association studies (GWAS) have been successful in mapping genetic variants that are associated with kidney
- Unravelling the complex genetics of common kidney diseases: from . . .
In this Review we consider different methods that can be used to prioritize causal variants, causal genes and regulatory mechanisms for kidney disease, including fine mapping, epigenome annotation and analysis of molQTLs, as well as the use of single-cell sequencing analyses to identify target cell types
- Kidney disease genetic risk variants alter lysosomal beta-mannosidase . . .
Here, we provide evidence that beta-mannosidase (MANBA) is a third kidney disease risk gene by computational integration of GWAS and eQTL studies, phenotype analysis of cohorts with exome sequencing, and mechanistic exper-iments using genetic knockout mice and cells
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