Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene

Por Forouhan, Mitra, Sonntag, Stephan, Boot-Handford, Raymond P
Publicado no Hum Mol Genet (2018)

Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

Por Mullan, Lorna A., Mularczyk, Ewa J., Kung, Louise H., Forouhan, Mitra, Wragg, Jordan M.A., Goodacre, Royston, Bateman, John F., Swanton, Eileithyia, Briggs, Michael D., Boot-Handford, Raymond P.
Publicado no J Clin Invest (2017)

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms

Por Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A, Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T, Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W, Wolf, Whitney E, Daniels, M. Leigh Anne, Noone, Peader G, Ferkol, Thomas W, Sagel, Scott D, Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O’Callaghan, Christopher, Lucas, Jane S, Hogg, Claire, Scambler, Peter J, Emes, Richard D, Chung, Eddie MK, Shoemark, Amelia, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M
Publicado em 2013