Buyer’s remorse: how OAS1 genetic variants acquired by modern humans make them vulnerable to severe COVID-19
After almost 2.5 years of the COVID-19 pandemic, we are still trying to understand the factors contributing to differences in disease severity and who should be treated with what, when, and why. Our paper addresses some of these questions from genetic, molecular, evolutionary, and clinical angles.
COVID-19 forced a suspension to our primary ciliary dyskinesia (PCD) diagnostic service. Re-purposing nasal epithelial cell RNAseq data and bioresource, three University of Southampton groups joined forces and found a new “short” isoform of ACE2, the cell surface receptor for SARS-CoV-2 virus.
Just six months ago, angiotensin-converting enzyme 2 (ACE2) was hardly in our lexicon, but most people have heard about it by now because SARS-CoV-2 uses it as a receptor to enter cells. We explored the long and the short of ACE2: its transcriptionally independent and functionally distinct isoforms.
We uncover a critical role for ARID1A in maintaining luminal cell identity and endocrine therapy response in ER+ breast cancer.
We use a data-driven approach to identify cell of origin in several pediatric brain tumor entities, and show that tumor gene expression programs are consistent with stalled differentiation of the corresponding normal lineages