Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Por Wheway, Gabrielle, Mitchison, Hannah M.
Publicado no Front Genet (2019)

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Por Wheway, Gabrielle, Mitchison, Hannah M.
Publicado no Front Genet (2019)

Signaling through the Primary Cilium

Por Wheway, Gabrielle, Nazlamova, Liliya, Hancock, John T.
Publicado no Front Cell Dev Biol (2018)

The role of primary cilia in the development and disease of the retina

Por Wheway, Gabrielle, Parry, David A, Johnson, Colin A
Publicado em 2014

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

Por Wheway, Gabrielle, Nazlamova, Liliya, Turner, Dann, Cross, Stephen
Publicado no Front Genet (2019)

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy

Por Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa
Publicado no Exp Eye Res (2020)

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

Por Hartill, Verity, Szymanska, Katarzyna, Sharif, Saghira Malik, Wheway, Gabrielle, Johnson, Colin A.
Publicado no Front Pediatr (2017)

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

Por Wheway, Gabrielle, Nazlamova, Liliya, Meshad, Nervine, Hunt, Samantha, Jackson, Nicola, Churchill, Amanda
Publicado no Front Genet (2019)

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

Por van Dam, Teunis JP, Wheway, Gabrielle, Slaats, Gisela G, Huynen, Martijn A, Giles, Rachel H
Publicado em 2013

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt s...

Por Abdelhamed, Zakia A., Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A.
Publicado em 2013

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Por Abdelhamed, Zakia A., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Christopher F., Toomes, Carmel, Johnson, Colin A., Jagger, Daniel J.
Publicado no Dis Model Mech (2015)

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

Por Dawe, Helen R., Adams, Matthew, Wheway, Gabrielle, Szymanska, Katarzyna, Logan, Clare V., Noegel, Angelika A., Gull, Keith, Johnson, Colin A.
Publicado em 2009

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

Por Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.
Publicado no Sci Rep (2019)

A meckelin–filamin A interaction mediates ciliogenesis

Por Adams, Matthew, Simms, Roslyn J., Abdelhamed, Zakia, Dawe, Helen R., Szymanska, Katarzyna, Logan, Clare V., Wheway, Gabrielle, Pitt, Eva, Gull, Keith, Knowles, Margaret A., Blair, Edward, Cross, Sally H., Sayer, John A., Johnson, Colin A.
Publicado em 2012

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis

Por Slaats, Gisela G., Wheway, Gabrielle, Foletto, Veronica, Szymanska, Katarzyna, van Balkom, Bas W. M., Logister, Ive, Den Ouden, Krista, Keijzer-Veen, Mandy G., Lilien, Marc R., Knoers, Nine V., Johnson, Colin A., Giles, Rachel H.
Publicado no J Cell Sci (2015)

Genomic programming of IRF4-expressing human Langerhans cells

Por Sirvent, Sofia, Vallejo, Andres F., Davies, James, Clayton, Kalum, Wu, Zhiguo, Woo, Jeongmin, Riddell, Jeremy, Chaudhri, Virendra K., Stumpf, Patrick, Nazlamova, Liliya Angelova, Wheway, Gabrielle, Rose-Zerilli, Matthew, West, Jonathan, Pujato, Mario, Chen, Xiaoting, Woelk, Christopher H., MacArthur, Ben, Ardern-Jones, Michael, Friedmann, Peter S., Weirauch, Matthew T., Singh, Harinder, Polak, Marta E.
Publicado no Nat Commun (2020)

ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis

Por Goggolidou, Paraskevi, L. Stevens, Jonathan, Agueci, Francesco, Keynton, Jennifer, Wheway, Gabrielle, Grimes, Daniel T., Patel, Saloni H., Hilton, Helen, Morthorst, Stine K., DiPaolo, Antonella, Williams, Debbie J., Sanderson, Jeremy, Khoronenkova, Svetlana V., Powles-Glover, Nicola, Ermakov, Alexander, Esapa, Chris T., Romero, Rosario, Dianov, Grigory L., Briscoe, James, Johnson, Colin A., Pedersen, Lotte B., Norris, Dominic P.
Publicado em 2014

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Por Buskin, Adriana, Zhu, Lili, Chichagova, Valeria, Basu, Basudha, Mozaffari-Jovin, Sina, Dolan, David, Droop, Alastair, Collin, Joseph, Bronstein, Revital, Mehrotra, Sudeep, Farkas, Michael, Hilgen, Gerrit, White, Kathryn, Pan, Kuan-Ting, Treumann, Achim, Hallam, Dean, Bialas, Katarzyna, Chung, Git, Mellough, Carla, Ding, Yuchun, Krasnogor, Natalio, Przyborski, Stefan, Zwolinski, Simon, Al-Aama, Jumana, Alharthi, Sameer, Xu, Yaobo, Wheway, Gabrielle, Szymanska, Katarzyna, McKibbin, Martin, Inglehearn, Chris F., Elliott, David J., Lindsay, Susan, Ali, Robin R., Steel, David H., Armstrong, Lyle, Sernagor, Evelyne, Urlaub, Henning, Pierce, Eric, Lührmann, Reinhard, Grellscheid, Sushma-Nagaraja, Johnson, Colin A., Lako, Majlinda
Publicado no Nat Commun (2018)

CiliaCarta: An integrated and validated compendium of ciliary genes

Por van Dam, Teunis J. P., Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard W., Lambacher, Nils J., Li, Chunmei, Jensen, Victor L., Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., van Wijk, Erwin, Képès, François, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T., Letteboer, Stef J. F., Oud, Machteld M., van Beersum, Sylvia E. C., Schmidts, Miriam, Beales, Philip L., Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A.
Publicado no PLoS One (2019)

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Por Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J.F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.
Publicado no Nat Cell Biol (2015)