Renal Diseases and Glomerulopathies

Profiling APOL1 Nephropathy Risk Variants in Genome-Edited Kidney Organoids with Single-Cell Transcriptomics

The paper uses genome-edited human kidney organoids and single-cell transcriptomics to study APOL1 risk variants' effects on kidney disease mechanisms.

Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, Brazil

The paper identifies novel deleterious variants in COL4A3 and COL4A4 in two unrelated Brazilian families with Alport Syndrome, linked to inbreeding through runs of homozygosity.

The AGE receptor, OST48 drives podocyte foot process effacement and basement membrane expansion in experimental diabetic kidney disease via promotion of endoplasmic reticulum stress

This study shows that increased podocyte expression of oligosaccharyltransferase-48kDa subunit worsens diabetic kidney disease by causing endoplasmic reticulum stress and kidney dysfunction.

Nucleoporin 133 deficiency leads to glomerular damage in zebrafish

This study shows that Nup133 deficiency in zebrafish causes kidney cysts and glomerular damage, mimicking human nephrotic syndrome features.

Organoid single-cell profiling identifies a transcriptional signature of glomerular disease

The paper identifies a transcriptional signature of glomerular disease using single-cell profiling of human kidney organoids and validates it in disease cohorts.

Redefining Nephrotic Syndrome in Molecular Terms: Outcome-associated molecular clusters and patient stratification with noninvasive surrogate biomarkers

The paper identifies high-risk nephrotic syndrome patients through transcriptome analysis and develops non-invasive biomarkers to predict disease progression.

Inflammatory and JAK-STAT Pathways as Shared Molecular Targets for ANCA-Associated Vasculitis and Nephrotic Syndrome

The paper identifies shared molecular pathways between ANCA-associated vasculitis and nephrotic syndrome, highlighting JAK-STAT signaling as a potential therapeutic target.

An eQTL landscape of kidney tissue in human nephrotic syndrome

The paper identifies eQTLs in glomerular and tubulointerstitial kidney tissues from nephrotic syndrome patients, finds tissue-specific eQTLs, and integrates them with a GWAS to identify associated genes.

Molecular genetic analysis of Steroid Resistant Nephrotic Syndrome: Detection of a novel mutation

The paper identifies a novel mutation in FAT1 and pathogenic mutations in NPHS2 among SRNS patients, suggesting the need for WES after NPHS2 screening.

Apolipoprotein L1 Dynamics in Human Parietal Epithelial Cell Molecular Phenotype Kinetics

The paper investigates the role of APOL1 in PEC phenotype transitions and its interaction with miR193a, showing a feedback loop and its modulation by HIV, IFN-y, and VDA.