A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

por Srivastava, Shalabh, Ramsbottom, Simon A, Molinari, Elisa, Alkanderi, Sumaya, Filby, Andrew, White, Kathryn, Henry, Charline, Saunier, Sophie, Miles, Colin G, Sayer, John A
Publicado 2017

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

por Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.
Publicado 2018

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

por Molinari, Elisa, Ramsbottom, Simon A., Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus M., Devlin, Laura A., White, Kathryn, Gunay-Aygun, Meral, Miles, Colin G., Sayer, John A.
Publicado 2019

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

por Molinari, Elisa, Decker, Eva, Mabillard, Holly, Tellez, James, Srivastava, Shalabh, Raman, Shreya, Wood, Katrina, Kempf, Caroline, Alkanderi, Sumaya, Ramsbottom, Simon A., Miles, Colin G., Johnson, Colin A., Hildebrandt, Friedhelm, Bergmann, Carsten, Sayer, John A.
Publicado 2018

Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes

por Griffin, Tomás P, Joyce, Caroline M, Alkanderi, Sumaya, Blake, Liam M, O’Keeffe, Derek T, Bogdanet, Delia, Islam, Md Nahidul, Dennedy, Michael C, Gillan, John E, Morrison, John J, O’Brien, Timothy, Sayer, John A, Bell, Marcia, O’Shea, Paula M
Publicado 2020

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

por Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.
Publicado 2018

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience

por Alsharhan, Hind, Ahmed, Amir A., Ali, Naser M., Alahmad, Ahmad, Albash, Buthaina, Elshafie, Reem M., Alkanderi, Sumaya, Elkazzaz, Usama M., Cyril, Parakkal Xavier, Abdelrahman, Rehab M., Elmonairy, Alaa A., Ibrahim, Samia M., Elfeky, Yasser M. E., Sadik, Doaa I., Al-Enezi, Sara D., Salloum, Ayman M., Girish, Yadav, Al-Ali, Mohammad, Ramadan, Dina G., Alsafi, Rasha, Al-Rushood, May, Bastaki, Laila
Publicado 2021