Risultati della ricerca - Wheway, Gabrielle

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project di Wheway, Gabrielle, Mitchison, Hannah M.

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Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project di Wheway, Gabrielle, Mitchison, Hannah M.

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Signaling through the Primary Cilium di Wheway, Gabrielle, Nazlamova, Liliya, Hancock, John T.

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The role of primary cilia in the development and disease of the retina di Wheway, Gabrielle, Parry, David A, Johnson, Colin A

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661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies di Wheway, Gabrielle, Nazlamova, Liliya, Turner, Dann, Cross, Stephen

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Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy di Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa

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An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field di Vasquez, Suly Saray Villa, van Dam, John, Wheway, Gabrielle

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Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances di Hartill, Verity, Szymanska, Katarzyna, Sharif, Saghira Malik, Wheway, Gabrielle, Johnson, Colin A.

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A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa di Wheway, Gabrielle, Nazlamova, Liliya, Meshad, Nervine, Hunt, Samantha, Jackson, Nicola, Churchill, Amanda

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The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium di van Dam, Teunis JP, Wheway, Gabrielle, Slaats, Gisela G, Huynen, Martijn A, Giles, Rachel H

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Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort di Best, Sunayna, Inglehearn, Chris F., Watson, Christopher M., Toomes, Carmel, Wheway, Gabrielle, Johnson, Colin A.

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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... di Abdelhamed, Zakia A., Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A.

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The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway di Abdelhamed, Zakia A., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Christopher F., Toomes, Carmel, Johnson, Colin A., Jagger, Daniel J.

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Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton di Dawe, Helen R., Adams, Matthew, Wheway, Gabrielle, Szymanska, Katarzyna, Logan, Clare V., Noegel, Angelika A., Gull, Keith, Johnson, Colin A.

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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies di Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle

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Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1 di Szymanska, Katarzyna, Boldt, Karsten, Logan, Clare V, Adams, Matthew, Robinson, Philip A, Ueffing, Marius, Zeqiraj, Elton, Wheway, Gabrielle, Johnson, Colin A

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The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5 di Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.

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Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia di Legebeke, Jelmer, Horton, Katie L., Jackson, Claire L., Coles, Janice, Harris, Amanda, Wai, Htoo A., Holloway, John W., Wheway, Gabrielle, Baralle, Diana, Lucas, Jane S.

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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia di Wheway, Gabrielle, Thomas, N. Simon, Carroll, Mary, Coles, Janice, Doherty, Regan, Goggin, Patricia, Green, Ben, Harris, Amanda, Hunt, David, Jackson, Claire L., Lord, Jenny, Mennella, Vito, Thompson, James, Walker, Woolf T., Lucas, Jane S.

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A meckelin–filamin A interaction mediates ciliogenesis di 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.

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