Renal Diseases and Glomerulopathies

This study identifies βPix as a regulator of LDLR stability by sequestering IDOL, preventing LDLR degradation, and reducing LDL-C uptake in Alport Syndrome models.

This study investigates how WT1-mediated transcriptional reprogramming responds to podocyte injury, revealing a repair mechanism that is later suppressed as injury progresses.

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

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.

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

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

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

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

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

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.

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

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.