Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia

by Maciej Dabrowski, Zuzanna Bukowy-Bieryllo, Claire L. Jackson, Ewa Zietkiewicz
Published 2021-05-01

Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid.

by Robert A Hirst, Claire L Jackson, Janice L Coles, Gwyneth Williams, Andrew Rutman, Patricia M Goggin, Elizabeth C Adam, Anthony Page, Hazel J Evans, Peter M Lackie, Christopher O'Callaghan, Jane S Lucas
Published 2014-01-01

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

by Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Genomics England Research Consortium, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker, Jane S. Lucas
Published 2021-09-01

A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary Dyskinesia

by Janice L. Coles, James Thompson, Katie L. Horton, Robert A. Hirst, Paul Griffin, Gwyneth M. Williams, Patricia Goggin, Regan Doherty, Peter M. Lackie, Amanda Harris, Woolf T. Walker, Christopher O’Callaghan, Claire Hogg, Jane S. Lucas, Cornelia Blume, Claire L. Jackson
Published 2020-11-01