檢索結果 - Wheway, Gabrielle

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

A meckelin–filamin A interaction mediates ciliogenesis 由 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.

獲取全文 獲取全文 獲取全文