Raisa Bailon-Zambrano, Juliana Sucharov ... James T Nichols
Within populations, there is standing variation in paralog expression levels, paralog expression levels are heritable, and variation in paralog expression can modify the phenotypes associated with mutation of one of the paralogs.
A human Orai1 mutation linked to tubular myopathy activates Orai1 channels independently of STIM1 and unmasks calcium-dependent inactivation of Orai1 channels.
A 5'-UTR SNP of FGF13 impairs PTBP2 interacting with FGF13 mRNA, leading to reduced FGF13 translation and deficits in brain development and cognitive functions.
Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.
Katina D Hulme, Anjana C Karawita ... Kirsty R Short
Patients with paucigranulocytic asthma may be more susceptible to severe influenza and could potentially be source of new, more virulent, influenza virus variants.
Chemical perturbation-dependent deep mutational scanning data collected by a lab-based interdisciplinary graduate class resolves a paradox between the high evolution conservation and the high mutational tolerance of the protein ubiquitin.
An unbiased genetic screen in Drosophila provides evidence for a direct link between glial Ca2+ 25 signaling and classical functions of glia in buffering external K+ as a mechanism to regulate neuronal excitability.
Cancer cells driven by mutations in KRAS or EGFR are dependent on DUSP6 to prevent ERK-induced cell death, creating a novel vulnerability for targeted therapy.
Lucia L Prieto-Godino, Hayden R Schmidt, Richard Benton
A 'hotspot' position in an olfactory receptor protein family underlies changes in odor tuning in different receptors at different times during evolution.