Výsledky vyhledávání - Wheway, Gabrielle

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia Autor 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.

Získat plný text Získat plný text Získat plný text

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia Autor 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.

Získat plný text Získat plný text Získat plný text

A meckelin–filamin A interaction mediates ciliogenesis Autor 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.

Získat plný text Získat plný text Získat plný text