A-to-I RNA editing in kidney tissue from patients with nephrotic syndrome

The landscape of allele-specific expression in human kidneys

Allele-specific expression (ASE), the preferential expression of one gene copy, is a key mechanism of genomic regulation. However, its role in human kidney disease remains poorly understood. In this study, we generated a high-quality, genome-wide ASE map using paired whole-genome sequencing and RNA sequencing from micr...

A single-cell transcriptome atlas reveals paradoxical monoallelic expression of RNA editing and heterozygous SNPs

The findings conservatively indicate that Smart-Seq may not be good at analyzing molecular diversity and that the results need to be interpreted with caution.

RNA Editing of DEGS1 Links Genetic Risk to Ceramide Dysregulation and Astrocyte Toxicity in ALS

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with ∼90% of cases being sporadic. Although genome-wide association studies have identified numerous genetic risk loci, these variants account for only a portion of ALS heritability, suggesting that additional genetic and regulatory mechanisms con...

EDITING OUT CARDIOVASCULAR RISK: A NARRATIVE REVIEW OF GENE-EDITING APPROACHES TO PCSK9

Early clinical and preclinical evidence supports the feasibility of PCSK9 gene editing, and compares CRISPR-Cas9 nuclease knockout, base editing, and epigenetic silencing with established antibody and siRNA classes, focusing on efficacy, durability, and safety.

The Polycystic Kidney Disease Cyst Transcriptome Defined by Integrating Spatial, Single Nuclear, and Bulk Transcriptomics.

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome

A robust RNA biomarker for T-loop ReNU syndrome for use in therapeutic development is defined, and a general framework for portable biomarker discovery in spliceopathies is illustrated.