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 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

Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues

por Singh, Parmveer, Lanman, Nadia A., Kendall, Hannah L. R., Wilson, Laura, Long, Ryan, Franco, Omar E., Buskin, Adriana, Miles, Colin G., Hayward, Simon W., Heer, Rakesh, Robson, Craig N.
Publicado 2023

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

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

microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs

por Woods, Steven, Charlton, Sarah, Cheung, Kat, Hao, Yao, Soul, Jamie, Reynard, Louise N., Crowe, Natalie, Swingler, Tracey E., Skelton, Andrew J., Piróg, Katarzyna A., Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Dalmay, Tamas, Clark, Ian M., Barter, Matt J., Young, David A.
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

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

por Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.
Publicado 2022

Increased hippocampal excitability in miR-324-null mice

por Hayman, Dan J., Modebadze, Tamara, Charlton, Sarah, Cheung, Kat, Soul, Jamie, Lin, Hua, Hao, Yao, Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Briggs, Michael D., Piróg, Katarzyna A., Clark, Ian M., Barter, Matt J., Clowry, Gavin J., LeBeau, Fiona E. N., Young, David A.
Publicado 2021

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

por Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., Bergmann, Carsten
Publicado 2022