Acute Versus Chronic Loss of Mammalian Azi1/Cep131 Results in Distinct Ciliary Phenotypes

por Hall, Emma A., Keighren, Margaret, Ford, Matthew J., Davey, Tracey, Jarman, Andrew P., Smith, Lee B., Jackson, Ian J., Mill, Pleasantine
Publicado 2013

A conserved role for Notch signaling in priming the cellular response to Shh through ciliary localisation of the key Shh transducer Smo

por Stasiulewicz, Magdalena, Gray, Shona D., Mastromina, Ioanna, Silva, Joana C., Björklund, Mia, Seymour, Philip A., Booth, David, Thompson, Calum, Green, Richard J., Hall, Emma A., Serup, Palle, Dale, J. Kim
Publicado en Development (2015)

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

por Mill, Pleasantine, Lockhart, Paul J., Fitzpatrick, Elizabeth, Mountford, Hayley S., Hall, Emma A., Reijns, Martin A.M., Keighren, Margaret, Bahlo, Melanie, Bromhead, Catherine J., Budd, Peter, Aftimos, Salim, Delatycki, Martin B., Savarirayan, Ravi, Jackson, Ian J., Amor, David J.
Publicado 2011

A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice

por Ford, Matthew J., Yeyati, Patricia L., Mali, Girish R., Keighren, Margaret A., Waddell, Scott H., Mjoseng, Heidi K., Douglas, Adam T., Hall, Emma A., Sakaue-Sawano, Asako, Miyawaki, Atsushi, Meehan, Richard R., Boulter, Luke, Jackson, Ian J., Mill, Pleasantine, Mort, Richard L.
Publicado en Dev Cell (2018)

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

por Stephen, Louise A, Tawamie, Hasan, Davis, Gemma M, Tebbe, Lars, Nürnberg, Peter, Nürnberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, André, Ekici, Arif B, McTeir, Lynn, Fraser, Amy M, Hall, Emma A, Mill, Pleasantine, Daudet, Nicolas, Cross, Courtney, Wolfrum, Uwe, Jamra, Rami Abou, Davey, Megan G, Bolz, Hanno J
Publicado en eLife (2015)

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

por Martin, Carol-Anne, Murray, Jennie E., Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J., Halachev, Mihail, Fetit, Ahmed E., Keith, Charlotte, Bicknell, Louise S., Fluteau, Adeline, Gautier, Philippe, Hall, Emma A., Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B., Duker, Angela, Wise, Carol A., Quigley, Alan J., Phadke, Shubha R., Wood, Andrew J., Vagnarelli, Paola, Jackson, Andrew P.
Publicado en Genes Dev (2016)

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis

por Martin, Carol-Anne, Murray, Jennie E., Carroll, Paula, Leitch, Andrea, MacKenzie, Karen J., Halachev, Mihail, Fetit, Ahmed E., Keith, Charlotte, Bicknell, Louise S., Fluteau, Adeline, Gautier, Philippe, Hall, Emma A., Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B., Duker, Angela, Wise, Carol A., Quigley, Alan J., Phadke, Shubha R., Wood, Andrew J., Vagnarelli, Paola, Jackson, Andrew P.
Publicado en Genes Dev (2017)

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

por Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine
Publicado en Am J Hum Genet (2017)

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

por Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O’Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine
Publicado en Science (2024)