Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles

por Ramsbottom, Simon, Miles, Colin, Sayer, John
Publicado 2015

Regulation of Hedgehog Signalling Inside and Outside the Cell

por Ramsbottom, Simon A., Pownall, Mary E.
Publicado 2016

From disease modelling to personalised therapy in patients with CEP290 mutations

por Molinari, Elisa, Srivastava, Shalabh, Sayer, John A., Ramsbottom, Simon A.
Publicado 2017

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes

por Molinari, Elisa, Ramsbottom, Simon A., Sammut, Veronica, Hughes, Frances E. P., Sayer, John A.
Publicado 2018

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping thera...

por Barroso‐Gil, Miguel, Olinger, Eric, Ramsbottom, Simon A., Molinari, Elisa, Miles, Colin G., Sayer, John A.
Publicado 2021

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion

por Edwards, Noel, Olinger, Eric, Adam, Jennifer, Kelly, Michael, Schiano, Guglielmo, Ramsbottom, Simon A, Sandford, Richard, Devuyst, Olivier, Sayer, John A
Publicado 2017

Vangl2-Regulated Polarisation of Second Heart Field-Derived Cells Is Required for Outflow Tract Lengthening during Cardiac Development

por Ramsbottom, Simon A., Sharma, Vipul, Rhee, Hong Jun, Eley, Lorraine, Phillips, Helen M., Rigby, Hannah F., Dean, Charlotte, Chaudhry, Bill, Henderson, Deborah J.
Publicado 2014

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

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

por Boczonadi, Veronika, Gillespie, Rachel, Keenan, Iain, Ramsbottom, Simon A., Donald-Wilson, Charlotte, Al Nazer, Mariana, Humbert, Patrick, Schwarz, Robert J., Chaudhry, Bill, Henderson, Deborah J.
Publicado 2014

Cyclin E is recruited to the nuclear matrix during differentiation, but is not recruited in cancer cells

por Munkley, Jennifer, Copeland, Nikki A., Moignard, Victoria, Knight, John R. P., Greaves, Erin, Ramsbottom, Simon A., Pownall, Mary E., Southgate, Jennifer, Ainscough, Justin F.-X., Coverley, Dawn
Publicado 2011

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

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

por Frikstad, Kari-Anne M., Molinari, Elisa, Thoresen, Marianne, Ramsbottom, Simon A., Hughes, Frances, Letteboer, Stef J.F., Gilani, Sania, Schink, Kay O., Stokke, Trond, Geimer, Stefan, Pedersen, Lotte B., Giles, Rachel H., Akhmanova, Anna, Roepman, Ronald, Sayer, John A., Patzke, Sebastian
Publicado 2019

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

por Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.
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