檢索結果 - Gabrielle Wheway

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  1. 1
    Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

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

    出版 2019
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  2. 2
    Signaling through the Primary Cilium

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

    出版 2018
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  3. 3
    The role of primary cilia in the development and disease of the retina

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

    出版 2013
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  4. 4
    661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

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

    出版 2019
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  5. 5
    An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field

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

    出版 2021
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  6. 6
    Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy

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

    出版 2020
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  7. 7
    Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

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

    出版 2017
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  8. 8
    Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome

    Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome 由 Gabrielle Wheway, Zakia Abdelhamed, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson

    出版 2013
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  9. 9
    The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

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

    出版 2013
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  10. 10
    Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

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

    出版 2013
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  11. 11
    The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

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

    出版 2015
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  12. 12
    Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

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

    出版 2009
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  13. 13
    A meckelin–filamin A interaction mediates ciliogenesis

    A meckelin–filamin A interaction mediates ciliogenesis 由 Matthew Adams, Roslyn Simms, Zakia Abdelhamed, Helen R. Dawe, Katarzyna Szymańska, Clare V. Logan, Gabrielle Wheway, Eva Pitt, Keith Gull, Margaret A. Knowles, Edward Blair, Sally H. Cross, John A. Sayer, Colin A. Johnson

    出版 2011
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  14. 14
    Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

    Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome 由 Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen Stals, Emma L. Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe Meisner Lyngby, Miriam G. Pedersen, Julie Désir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle

    出版 2022
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  15. 15
    ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis

    ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis 由 Paraskevi Goggolidou, Jonathan L. Stevens, Francesco Agueci, Jennifer Keynton, Gabrielle Wheway, Daniel T. Grimes, Saloni H Patel, Helen Hilton, Stine K. Morthorst, Antonella Di Paolo, Debbie Williams, Jeremy Sanderson, S. V. Khoronenkova, Nicola Powles‐Glover, Alexander Ermakov, Chris Esapa, Rosario Romero, Grigory L. Dianov, James Briscoe, Colin A. Johnson, Lotte B. Pedersen, Dominic P. Norris

    出版 2014
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  16. 16
    A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

    A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection 由 Cornelia Blume, Claire L. Jackson, C. Mirella Spalluto, Jelmer Legebeke, Liliya Nazlamova, Franco Conforti, Jeanne‐Marie Perotin, Martin Frank, John Butler, Max Crispin, Janice Coles, James Thompson, Robert A. Ridley, Lareb S. N. Dean, Matthew Loxham, Stephanie Reikine, Adnan Azim, Kamran Tariq, David A. Johnston, Paul Skipp, Ratko Djukanović, Diana Baralle, Christopher J. McCormick, Donna E. Davies, Jane S. Lucas, Gabrielle Wheway, Vito Mennella

    出版 2021
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  17. 17
    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling 由 Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, Erik H. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan

    出版 2013
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  18. 18
    Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

    Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa 由 Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari‐Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael H. Farkas, Gerrit Hilgen, Kathryn White, Kuan‐Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Y. Al‐Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymańska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric A. Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako

    出版 2018
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  19. 19
    CiliaCarta: An integrated and validated compendium of ciliary genes

    CiliaCarta: An integrated and validated compendium of ciliary genes 由 Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan Frederik Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymańska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T. Nguyen, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, Miriam Schmidts, Philip L. Beales, Qianhao Lu, Rachel H. Giles, Radek Szklarczyk, Robert B. Russell, Toby J. Gibson, Colin A. Johnson, Oliver E. Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Víctor Hernández-Hernández, Martijn A. Huynen

    出版 2019
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  20. 20
    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis 由 Amelia Shoemark, Helen Griffin, Gabrielle Wheway, Claire Hogg, Jane S. Lucas, Carlos Camps, Jenny C. Taylor, Mary Carroll, Michael R. Loebinger, James D. Chalmers, Deborah Morris‐Rosendahl, Hannah M. Mitchison, Anthony De Soyza, David E. Brown, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Richard V. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elyse T. Williams, Katarzyna Witkowska, S. M. Wood

    出版 2022
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