Nucleo-cytoplasmic shuttling of splicing factor SRSF1 is required for development and cilia function
Haward, Fiona, Maslon, Magdalena M, Yeyati, Patricia L, Bellora, Nicolas, Hansen, Jan N, Aitken, Stuart, Lawson, Jennifer, von Kriegsheim, Alex, Wachten, Dagmar, Mill, Pleasantine, Adams, Ian R, Caceres, Javier F
Published in eLife (02.08.2021)
Published in eLife (02.08.2021)
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Journal Article
A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia
Quidwai, Tooba, Wang, Jiaolong, Hall, Emma A, Petriman, Narcis A, Leng, Weihua, Kiesel, Petra, Wells, Jonathan N, Murphy, Laura C, Keighren, Margaret A, Marsh, Joseph A, Lorentzen, Esben, Pigino, Gaia, Mill, Pleasantine
Published in eLife (04.11.2021)
Published in eLife (04.11.2021)
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Journal Article
Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models
Megaw, Roly, Abu-Arafeh, Hashem, Jungnickel, Melissa, Mellough, Carla, Gurniak, Christine, Witke, Walter, Zhang, Wei, Khanna, Hemant, Mill, Pleasantine, Dhillon, Baljean, Wright, Alan F., Lako, Majlinda, ffrench-Constant, Charles
Published in Nature communications (16.08.2017)
Published in Nature communications (16.08.2017)
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Journal Article
Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development
Reijns, Martin A.M., Rabe, Björn, Rigby, Rachel E., Mill, Pleasantine, Astell, Katy R., Lettice, Laura A., Boyle, Shelagh, Leitch, Andrea, Keighren, Margaret, Kilanowski, Fiona, Devenney, Paul S., Sexton, David, Grimes, Graeme, Holt, Ian J., Hill, Robert E., Taylor, Martin S., Lawson, Kirstie A., Dorin, Julia R., Jackson, Andrew P.
Published in Cell (25.05.2012)
Published in Cell (25.05.2012)
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Journal Article
ZMYND10 functions in a chaperone relay during axonemal dynein assembly
Mali, Girish R, Yeyati, Patricia L, Mizuno, Seiya, Dodd, Daniel O, Tennant, Peter A, Keighren, Margaret A, Zur Lage, Petra, Shoemark, Amelia, Garcia-Munoz, Amaya, Shimada, Atsuko, Takeda, Hiroyuki, Edlich, Frank, Takahashi, Satoru, von Kreigsheim, Alex, Jarman, Andrew P, Mill, Pleasantine
Published in eLife (19.06.2018)
Published in eLife (19.06.2018)
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Journal Article
Ciliary tip actin dynamics regulate photoreceptor outer segment integrity
Megaw, Roly, Moye, Abigail, Zhang, Zhixian, Newton, Fay, McPhie, Fraser, Murphy, Laura C., McKie, Lisa, He, Feng, Jungnickel, Melissa K., von Kriegsheim, Alex, Tennant, Peter A., Brotherton, Chloe, Gurniak, Christine, Gross, Alecia K., Machesky, Laura M., Wensel, Theodore G., Mill, Pleasantine
Published in Nature communications (21.05.2024)
Published in Nature communications (21.05.2024)
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Journal Article
Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes
Hall, Emma A, Keighren, Margaret, Ford, Matthew J, Davey, Tracey, Jarman, Andrew P, Smith, Lee B, Jackson, Ian J, Mill, Pleasantine
Published in PLoS genetics (01.12.2013)
Published in PLoS genetics (01.12.2013)
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Journal Article
In Vivo Modeling of Patient Genetic Heterogeneity Identifies New Ways to Target Cholangiocarcinoma
Younger, Nicholas T, Wilson, Mollie L, Martinez Lyons, Anabel, Jarman, Edward J, Meynert, Alison M, Grimes, Graeme R, Gournopanos, Konstantinos, Waddell, Scott H, Tennant, Peter A, Wilson, David H, Guest, Rachel V, Wigmore, Stephen J, Acosta, Juan Carlos, Kendall, Timothy J, Taylor, Martin S, Sproul, Duncan, Mill, Pleasantine, Boulter, Luke
Published in Cancer research (Chicago, Ill.) (15.04.2022)
Published in Cancer research (Chicago, Ill.) (15.04.2022)
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Journal Article
Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis
Hall, Emma A, Kumar, Dhivya, Prosser, Suzanna L, Yeyati, Patricia L, Herranz-Pérez, Vicente, García-Verdugo, Jose Manuel, Rose, Lorraine, McKie, Lisa, Dodd, Daniel O, Tennant, Peter A, Megaw, Roly, Murphy, Laura C, Ferreira, Marisa F, Grimes, Graeme, Williams, Lucy, Quidwai, Tooba, Pelletier, Laurence, Reiter, Jeremy F, Mill, Pleasantine
Published in eLife (15.02.2023)
Published in eLife (15.02.2023)
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Journal Article
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
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
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Journal Article
Notch1 functions as a tumor suppressor in mouse skin
Wolfer, Anita, Radtke, Freddy, Nicolas, Michael, Dotto, G. Paolo, Kummer, J. Alain, Mill, Pleasantine, Clevers, Hans, van Noort, Mascha, Hui, Chi-chung, Raj, Kenneth
Published in Nature genetics (01.03.2003)
Published in Nature genetics (01.03.2003)
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Journal Article
Sox9 Is Essential for Outer Root Sheath Differentiation and the Formation of the Hair Stem Cell Compartment
Vidal, Valerie P.I., Chaboissier, Marie-Christine, Lützkendorf, Susanne, Cotsarelis, George, Mill, Pleasantine, Hui, Chi-Chung, Ortonne, Nicolas, Ortonne, Jean-Paul, Schedl, Andreas
Published in Current biology (09.08.2005)
Published in Current biology (09.08.2005)
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Journal Article
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
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Journal Article
Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
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.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Journal Article
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
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
Published in eLife (19.09.2015)
Published in eLife (19.09.2015)
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Journal Article
Palmitoylation regulates epidermal homeostasis and hair follicle differentiation
Mill, Pleasantine, Lee, Angela W S, Fukata, Yuko, Tsutsumi, Ryouhei, Fukata, Masaki, Keighren, Margaret, Porter, Rebecca M, McKie, Lisa, Smyth, Ian, Jackson, Ian J
Published in PLoS genetics (01.11.2009)
Published in PLoS genetics (01.11.2009)
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Journal Article
A structural model of the core of cilia
Published in Nature (London)
(31.05.2023)
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Journal Article
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes
Horani, Amjad, Gupta, Deepesh Kumar, Xu, Jian, Xu, Huihui, Carmen Puga-Molina, Lis Del, Santi, Celia M, Ramagiri, Sruthi, Brennan, Steven K, Pan, Jiehong, Koenitzer, Jeffrey R, Huang, Tao, Hyland, Rachael M, Gunsten, Sean P, Tzeng, Shin-Cheng, Strahle, Jennifer M, Mill, Pleasantine, Mahjoub, Moe R, Dutcher, Susan K, Brody, Steven L
Published in JCI insight (08.06.2023)
Published in JCI insight (08.06.2023)
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Journal Article