Renal Diseases and Glomerulopathies

The paper reports a novel TRPC6 mutation causing autosomal dominant FSGS and shows that combined Sildenafil and Losartan therapy improves podocyte dysfunction.

This paper develops a deep learning method to automate measurement of glomerular basement membrane and podocyte foot process widths in TEM images of podocytopathy mouse models, showing comparable accuracy to manual methods.

The paper investigates the structural dynamics of slit-diaphragm proteins using molecular docking and simulations, revealing conformational adaptations and subunit-sharing mechanisms in health and disease.

This study shows that deleting endomucin in endothelial cells causes structural and functional issues in kidney glomeruli, including podocyte damage and albuminuria.

This study investigates ILDR2's role in glomerulopathies, finding it upregulated in disease models and suggesting a protective effect against glomerular damage.

The paper analyzes glomerular transcriptomes to show APOL1 risk variants affect parietal epithelial cells in nephrotic patients, linking gene expression patterns to disease outcomes.

The paper demonstrates the existence of multiple efferent arterioles in human glomeruli using 3D imaging and graph analysis, showing their topological distinctness or equivalence and their role in blood flow redistribution.

This study shows that deleting iPLA2γ in mice protects them from diabetic nephropathy by increasing glomerular autophagy and reducing albuminuria.

The paper identifies inflammatory molecules in glomerular endothelial cells in mild IgA-Nephropathy using single-cell and spatial transcriptomics.

This study identifies podocyte exopher-formation as a novel mechanism for removing antigen/autoantibody aggregates in membranous nephropathy, with potential for non-invasive monitoring.

This study shows that a gain-of-function INF2 mutation causes FSGS in mice, linking INF2's cellular roles to disease progression and explaining its autosomal dominant inheritance.

This study investigates the role of Ildr2 in maintaining podocyte architecture and finds that its deletion causes structural changes in podocytes but not significant albuminuria under normal conditions.

This study uses a Drosophila model to functionally assess COL4A5 variants for pathogenicity in Alport syndrome, identifying four pathogenic variants and three benign ones.

This study uses UK Biobank data to show APOL1 genotype strongly influences plasma APOL1 levels, with Black or Black British individuals having higher levels despite genetic variation.

This study identifies early glomerular changes and gene expression patterns in Alport syndrome, showing ER stress and four genes as key drivers of disease before proteinuria, and highlights potential therapeutic targets.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

This study identifies genetic variants associated with IgA nephropathy in pediatric patients through an exome-wide association analysis.

The paper investigates the evolutionary origin and diversification of collagen IV genes, revealing their role in the development of basement membranes and adaptation to environmental osmolarity.

This study validates NanoString technology to identify inflammatory biomarkers in IgA nephropathy, finding C3 and TNFR2 as potential progression markers and fibrosis-related genes.

The paper identifies MAFB's role in podocyte differentiation by enabling WT1 binding to specific promoters through chromatin accessibility.

The paper identifies known and novel splicing-disruptive variants in WT1 exon 9 using high-throughput assays, finding 16 new variants and 19 variants increasing the KTS+/KTS- ratio.

This systematic review identifies haptoglobin and suPAR as promising biomarkers for predicting steroid resistance in nephrotic syndrome, based on their sensitivity, specificity, and sample size.

The paper uses BioID to identify proteins localized to the podocyte slit diaphragm, discovering novel components and age-related changes in the foot process proteome.

This study identifies a novel genetic association between AHI1 variants and steroid-sensitive nephrotic syndrome in both Sri Lankan and European populations.

The paper identifies differentially expressed genes and hub genes in FSGS using NGS data and bioinformatics tools, suggesting potential molecular mechanisms and biomarkers.

This study uses human pluripotent stem cell-derived kidney organoids to model nephrotic syndrome, showing they can replicate podocyte injury and respond to genetic correction.

This study identifies 30 genome-wide significant risk loci for IgA nephropathy, links them to inflammatory pathways, and prioritizes drug targets.

This study identifies therapeutic targets in IgA nephropathy by analyzing transcriptomic deviations and altered pathways in glomeruli.

This study investigates the feasibility of PTC readthrough therapy for Alport syndrome by testing its effect on COL4A5 nonsense mutations using a luciferase reporter system.

The paper investigates the role of AMP-Kinase in regulating glomerular volume and podocyte survival through experimental models and biochemical analysis.