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

بواسطة Forouhan, Mitra, Sonntag, Stephan, Boot-Handford, Raymond P
الحاوية / القاعدة Hum Mol Genet (2018)

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

بواسطة 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.
الحاوية / القاعدة 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

بواسطة 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
منشور في 2013