Tooraj Mirshahi

The circadian clock regulates KCNH2 (hERG) promoter activity through daily temperature rhythms.

This study shows that temperature cycles drive circadian regulation of the KCNH2 promoter through BMAL1:CLOCK binding at a conserved E-box.

Integrating Genetic and Transcriptomic Data to Identify Genes Underlying Obesity Risk Loci

The paper identifies genes associated with obesity risk loci by integrating genetic and transcriptomic data from blood and brain tissues.

Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning

This study uses machine learning and molecular dynamics simulations to predict which KCNH2 variants disrupt Kv11.1 channel trafficking, improving variant classification accuracy by ~10%.

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

Gi-Coupled Receptor Activation Potentiates Piezo2 Currents via Gβγ

This study shows that Gi-coupled receptor activation enhances Piezo2 currents through Gβγ signaling in DRG neurons and heterologous systems.