Jingjing Zhao

This study shows that CRISPR activation can rescue electrophysiological deficits in SCN2A haploinsufficiency by increasing the expression of the remaining functional allele in mice and human neurons.

MPRAbase is a curated database of MPRA experiments that provides access to 17.7 million regulatory elements tested across 35 cell types and 4 organisms.

The paper identifies functional cis-regulatory elements in three human cell types using lentiMPRAs and develops predictive models for CRE function.

The paper identifies a female-biased tail abnormality caused by deletion of Pax1 regulatory elements in mice, linking it to estrogen signaling and AIS susceptibility.

This study identifies AIS-associated genes and regulatory elements through RNA-seq and ChIP-seq in human and mouse tissues, revealing pathways involved in chondrogenesis and connective tissue maintenance.

This study identifies ADGRG6 as a regulator of intervertebral disc homeostasis through STAT3 signaling, showing that inhibiting STAT3 reduces disc degeneration in a mouse model.