A novel role for the obesity-associated gene FTO in ciliogenesis and Wnt signalling

por Osborn, DPS, Mukherjee, S, Roccasecca, RM, Barosso, I, Stemple, D, Beales, PL, Christou-Savina, S
Publicado 2012

Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies

por Osborn, Daniel P. S., Roccasecca, Rosa Maria, McMurray, Fiona, Hernandez-Hernandez, Victor, Mukherjee, Sriparna, Barroso, Inês, Stemple, Derek, Cox, Roger, Beales, Philip L., Christou-Savina, Sonia
Publicado 2014

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

por Haq, Naila, Schmidt-Hieber, Christoph, Sialana, Fernando J., Ciani, Lorenza, Heller, Janosch P., Stewart, Michelle, Bentley, Liz, Wells, Sara, Rodenburg, Richard J., Nolan, Patrick M., Forsythe, Elizabeth, Wu, Michael C., Lubec, Gert, Salinas, P., Häusser, Michael, Beales, Philip L., Christou-Savina, Sofia
Publicado 2019

Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

por Haq, Naila, Schmidt-Hieber, Christoph, Sialana, Fernando J., Ciani, Lorenza, Heller, Janosch P., Stewart, Michelle, Bentley, Liz, Wells, Sara, Rodenburg, Richard J., Nolan, Patrick M., Forsythe, Elizabeth, Wu, Michael C., Lubec, Gert, Salinas, Patricia C., Häusser, Michael, Beales, Philip L., Christou-Savina, Sofia
Publicado 2019

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

por Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Publicado 2015