Publications by authors named "F L F Eichinger"

The disproportionate risk for idiopathic proteinuric podocytopathies in Black people is explained, in part, by the presence of two risk alleles (G1 or G2) in the gene. The pathogenic mechanisms responsible for this genetic association remain incompletely understood. We analyzed glomerular RNASeq transcriptomes from patients with idiopathic nephrotic syndrome of which 72 had inferred African ancestry (AA) and 152 did not (noAA).

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Article Synopsis
  • - The study investigates how amyloid deposition affects kidney function in patients with amyloid light-chain (AL) amyloidosis, using data from renal biopsies in the RAIN trial to find relevant molecular signatures.
  • - Researchers performed detailed transcriptional profiling and created a histologic scoring tool, identifying two distinct patient groups based on gene expression patterns and noted differences in scarring and inflammatory pathways.
  • - The findings suggest that further research with larger sample sizes and advanced techniques could pinpoint specific kidney cell responses to amyloid deposits, paving the way for new treatments.
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Key Points: Using transcriptome-wide association studies, we identified an association between splicing out of exon 27 of COL4A4 and hematuria. We confirmed the presence of COL4A4 exon 27 splicing in an independent cohort. Functional assays revealed that the COL4A4 transcript with exon 27 spliced out affects collagen IV trimer assembly and secretion.

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Kidney organoids are a promising model to study kidney disease, but their use is constrained by limited knowledge of their functional protein expression profile. Here, we define the organoid proteome and transcriptome trajectories over culture duration and upon exposure to TNFα, a cytokine stressor. Older organoids increase deposition of extracellular matrix but decrease expression of glomerular proteins.

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Arteriolar hyalinosis in kidneys is an independent predictor of cardiovascular disease, the main cause of mortality in chronic kidney disease (CKD). The underlying molecular mechanisms of protein accumulation in the subendothelial space are not well understood. Using single cell transcriptomic data and whole slide images from kidney biopsies of patients with CKD and acute kidney injury in the Kidney Precision Medicine Project, the molecular signals associated with arteriolar hyalinosis were evaluated.

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