Ngā hua rapu kaituhi :: APM

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

I whakaputaina 2019

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Revisão

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2

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

I whakaputaina 2018

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3

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

I whakaputaina 2013

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4

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

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

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

I whakaputaina 2021

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6

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

I whakaputaina 2020

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7

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

I whakaputaina 2017

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8

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

I whakaputaina 2013

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Artigo

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9

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

I whakaputaina 2013

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Artigo

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

I whakaputaina 2013

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Artigo

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11

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

I whakaputaina 2015

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Artigo

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12

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

I whakaputaina 2009

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Artigo

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A meckelin–filamin A interaction mediates ciliogenesis mā 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

I whakaputaina 2011

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Artigo

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14

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome mā 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

I whakaputaina 2022

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Artigo

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ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis mā 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

I whakaputaina 2014

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Artigo

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A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection mā 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

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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

I whakaputaina 2013

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Artigo

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

I whakaputaina 2018

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Artigo

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CiliaCarta: An integrated and validated compendium of ciliary genes mā 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

I whakaputaina 2019

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Artigo

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20

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis mā 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

I whakaputaina 2022

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Artigo

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