These results identify A-to-I RNA editing as a measurable and partly genetically regulated molecular phenotype in proteinuric kidney disease and nominate clustered editing of tubulointerstitial transcripts as a putative contributor to attenuated immune activity and higher kidney function.
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...
Ana C. Onuchic-Whitford, Jun-Mo Sung, Eric D. Sakkas et al.· Science Advances· 0 citations
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.
Y. Duan, Ji-Yao Liu, Shiwen Xu et al.· Nucleic Acids Research· 1 citation
The results demonstrate that common genetic variants can influence disease risk through post-transcriptional mechanisms that alter lipid homeostasis in astrocytes, a cell type increasingly recognized as central to ALS progression.
Alan Guo, S. Lessard, Li-Lu Guo et al.· bioRxiv· 0 citations
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.
Piotr Bahyrycz, Karolina Markusiewicz, Magdalena Pyzik et al.· International Journal of Inn...· 0 citations
Spatial transcriptomics morphologically and transcriptionally characterizes the polycystic kidney disease transcriptome and may provide clinically-relevant disease associations that inform mechanistic studies in animal and organoid models.
Muhammad Ibrahim Khan, J. H. Robichaud, H. Afrin et al.· Kidney360· 0 citations
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.
Ruebena Dawes, A. Blakes, Theodora Markati et al.· medRxiv· 0 citations
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