Hasil Pencarian - Ian J. Jackson
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Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome oleh Mark T. Handley, André Mégarbané, Alison M. Meynert, Stephen Brown, Elisabeth Freyer, Martin S. Taylor, Ian J. Jackson, Irene A. Aligianis
Diterbitkan 2014-07-01
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A mouse model of brittle cornea syndrome caused by mutation in Zfp469 oleh Chloe M. Stanton, Amy S. Findlay, Camilla Drake, Mohammad Z. Mustafa, Philippe Gautier, Lisa McKie, Ian J. Jackson, Veronique Vitart
Diterbitkan 2021-09-01
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The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells oleh Andrew Parker, Sally H. Cross, Ian J. Jackson, Rachel Hardisty-Hughes, Susan Morse, George Nicholson, Emma Coghill, Michael R. Bowl, Steve D. M. Brown
Diterbitkan 2015-12-01
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Investigating the genetic architecture of eye colour in a Canadian cohort oleh Frida Lona-Durazo, Rohit Thakur, Erola Pairo-Castineira, Karen Funderburk, Tongwu Zhang, Michael A. Kovacs, Jiyeon Choi, Ian J. Jackson, Kevin M. Brown, Esteban J. Parra
Diterbitkan 2022-06-01
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Reconciling diverse mammalian pigmentation patterns with a fundamental mathematical model oleh Richard L. Mort, Robert J. H. Ross, Kirsten J. Hainey, Olivia J. Harrison, Margaret A. Keighren, Gabriel Landini, Ruth E. Baker, Kevin J. Painter, Ian J. Jackson, Christian A. Yates
Diterbitkan 2016-01-01
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Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss. oleh Jing Chen, Neil Ingham, John Kelly, Shalini Jadeja, David Goulding, Johanna Pass, Vinit B Mahajan, Stephen H Tsang, Anastasia Nijnik, Ian J Jackson, Jacqueline K White, Andrew Forge, Daniel Jagger, Karen P Steel
Diterbitkan 2014-10-01
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A trans-acting protein effect causes severe eye malformation in the Mp mouse. oleh Joe Rainger, Margaret Keighren, Douglas R Keene, Noe L Charbonneau, Jacqueline K Rainger, Malcolm Fisher, Sebastien Mella, Jeffrey T-J Huang, Lorraine Rose, Rob van't Hof, Lynne Y Sakai, Ian J Jackson, David R Fitzpatrick
Diterbitkan 2013-01-01
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Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function oleh Amy S. Findlay, Roderick N. Carter, Becky Starbuck, Lisa McKie, Klára Nováková, Peter S. Budd, Margaret A. Keighren, Joseph A. Marsh, Sally H. Cross, Michelle M. Simon, Paul K. Potter, Nicholas M. Morton, Ian J. Jackson
Diterbitkan 2018-12-01
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Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice oleh Nicholas G. Tolman, Revathi Balasubramanian, Danilo G. Macalinao, Alison L. Kearney, Katharine H. MacNicoll, Christa L. Montgomery, Wilhelmine N. de Vries, Ian J. Jackson, Sally H. Cross, Krishnakumar Kizhatil, K. Saidas Nair, Simon W. M. John
Diterbitkan 2021-02-01
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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 oleh Sarah M. Carpanini, Lisa McKie, Derek Thomson, Ann K. Wright, Sarah L. Gordon, Sarah L. Roche, Mark T. Handley, Harris Morrison, David Brownstein, Thomas M. Wishart, Michael A. Cousin, Thomas H. Gillingwater, Irene A. Aligianis, Ian J. Jackson
Diterbitkan 2014-06-01
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A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]. oleh Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson
Diterbitkan 2014-05-01
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HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. oleh Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill
Diterbitkan 2014-09-01
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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. oleh Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick
Diterbitkan 2011-07-01
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