Kirstyn T Carey

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

Nicole J Van Bergen, Katrina M Bell, Kirsty Carey, Russell Gear, Sean Massey, Edward K Murrell, Lyndon Gallacher, Kate Pope, Paul J Lockhart, Andrew Kornberg, Lynn Pais, Marzena Walkiewicz, Cas Simons, Mcri Rare Diseases Flagship, Vihandha O Wickramasinghe, Susan M White, John Christodoulou

Journal article  |  2021  |  HUMAN MOLECULAR GENETICS

The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and..

Germline heterozygous mutations in Nxf1 perturb RNA metabolism and trigger thrombocytopenia and lymphopenia in mice

Stephane Chappaz, Charity W Law, Mark R Dowling, Kirstyn T Carey, Rachael M Lane, Linh H Ngo, Vihandha O Wickramasinghe, Gordon K Smyth, Matthew E Ritchie, Benjamin T Kile

Journal article  |  2020  |  BLOOD ADVANCES

In eukaryotic cells, messenger RNA (mRNA) molecules are exported from the nucleus to the cytoplasm, where they are translated. The..