Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Abstract RNA polymerase III (Pol III, POLR3) synthesizes tRNAs and other small non-coding RNAs. Human POLR3 pathogenic variants cause a range of developmental disorders, recapitulated in part by mouse models, yet some aspects of POLR3 deficiency have not been explored. We characterized a human POLR3B:c.1625A>G;p.(Asn542Ser) disease variant that was found to cause mis-splicing of POLR3B.
Introduction The Ehlers–Danlos syndromes (EDSs) are a group of hereditary connective tissue disorders (HCTDs) characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. They are classified into 14 subtypes based on symptoms and causative genes according to the 2017 International Classification (Malfait et al., 2017) and subsequent findings (Malfait et al., 2017).
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
