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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The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification
Cross, Sally H, Mckie, Lisa, Hurd, Toby W, Riley, Sam, Wills, Jimi, Barnard, Alun R, Young, Fiona, MacLaren, Robert E, Jackson, Ian J
Published in PLoS genetics (01.04.2020)
Published in PLoS genetics (01.04.2020)
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B, Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A, Grimes, Graeme R, Kriegsheim, Alex von, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M, Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P, FitzPatrick, David R
Published in PloS one (22.11.2022)
Published in PloS one (22.11.2022)
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Journal Article
A mouse model of brittle cornea syndrome caused by mutation in Zfp469
Stanton, Chloe M, Findlay, Amy S, Drake, Camilla, Mustafa, Mohammad Z, Gautier, Philippe, McKie, Lisa, Jackson, Ian J, Vitart, Veronique
Published in Disease models & mechanisms (01.09.2021)
Published in Disease models & mechanisms (01.09.2021)
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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
The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism
Tingaud-Sequeira, Angèle, Mercier, Elina, Michaud, Vincent, Pinson, Benoît, Gazova, Ivet, Gontier, Etienne, Decoeur, Fanny, McKie, Lisa, Jackson, Ian J., Arveiler, Benoît, Javerzat, Sophie
Published in Genes (01.07.2022)
Published in Genes (01.07.2022)
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Journal Article
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function
Findlay, Amy S, Carter, Roderick N, Starbuck, Becky, McKie, Lisa, Nováková, Klára, Budd, Peter S, Keighren, Margaret A, Marsh, Joseph A, Cross, Sally H, Simon, Michelle M, Potter, Paul K, Morton, Nicholas M, Jackson, Ian J
Published in Disease models & mechanisms (01.12.2018)
Published in Disease models & mechanisms (01.12.2018)
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Journal Article
Cardiac malformations and midline skeletal defects in mice lacking filamin A
Hart, Alan W., Morgan, Joanne E., Schneider, Jürgen, West, Katrine, McKie, Lisa, Bhattacharya, Shoumo, Jackson, Ian J., Cross, Sally H.
Published in Human molecular genetics (15.08.2006)
Published in Human molecular genetics (15.08.2006)
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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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Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development
Webb, Tom R, Cross, Sally H, McKie, Lisa, Edgar, Ruth, Vizor, Lucie, Harrison, Jackie, Peters, Jo, Jackson, Ian J
Published in Journal of cell science (01.10.2008)
Published in Journal of cell science (01.10.2008)
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Journal Article
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
Van Agtmael, Tom, Schlötzer-Schrehardt, Ursula, McKie, Lisa, Brownstein, David G., Lee, Angela W., Cross, Sally H., Sado, Yoshikazu, Mullins, John J., Pöschl, Ernst, Jackson, Ian J.
Published in Human molecular genetics (01.11.2005)
Published in Human molecular genetics (01.11.2005)
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A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton
Carpanini, Sarah M, McKie, Lisa, Thomson, Derek, Wright, Ann K, Gordon, Sarah L, Roche, Sarah L, Handley, Mark T, Morrison, Harris, Brownstein, David, Wishart, Thomas M, Cousin, Michael A, Gillingwater, Thomas H, Aligianis, Irene A, Jackson, Ian J
Published in Disease models & mechanisms (01.06.2014)
Published in Disease models & mechanisms (01.06.2014)
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A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]
Cross, Sally H, Macalinao, Danilo G, McKie, Lisa, Rose, Lorraine, Kearney, Alison L, Rainger, Joe, Thaung, Caroline, Keighren, Margaret, Jadeja, Shalini, West, Katrine, Kneeland, Stephen C, Smith, Richard S, Howell, Gareth R, Young, Fiona, Robertson, Morag, van T' Hof, Rob, John, Simon W M, Jackson, Ian J
Published in PLoS genetics (01.05.2014)
Published in PLoS genetics (01.05.2014)
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Journal Article
Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases
Douvaras, Panagiotis, Liu, Weijia, Mort, Richard L, McKie, Lisa, West, Katrine M, Cross, Sally H, Morley, Steven D, West, John D
Published in BMC research notes (27.02.2012)
Published in BMC research notes (27.02.2012)
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Journal Article
Dopachrome tautomerase variants in patients with oculocutaneous albinism
Pennamen, Perrine, Tingaud-Sequeira, Angèle, Gazova, Iveta, Keighren, Margaret, McKie, Lisa, Marlin, Sandrine, Gherbi Halem, Souad, Kaplan, Josseline, Delevoye, Cédric, Lacombe, Didier, Plaisant, Claudio, Michaud, Vincent, Lasseaux, Eulalie, Javerzat, Sophie, Jackson, Ian, Arveiler, Benoit
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Journal Article
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse
Cross, Sally H, Mckie, Lisa, Keighren, Margaret, West, Katrine, Thaung, Caroline, Davey, Tracey, Soares, Dinesh C, Sanchez-Pulido, Luis, Jackson, Ian J
Published in Investigative ophthalmology & visual science (01.07.2019)
Published in Investigative ophthalmology & visual science (01.07.2019)
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Journal Article
Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function
Findlay, Amy S, McKie, Lisa, Keighren, Margaret, Clementson-Mobbs, Sharon, Sanchez-Pulido, Luis, Wells, Sara, Cross, Sally H, Jackson, Ian J
Published in Scientific reports (16.01.2020)
Published in Scientific reports (16.01.2020)
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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
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice
Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, Fitzpatrick, David R
Published in PLoS genetics (01.07.2011)
Published in PLoS genetics (01.07.2011)
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