Research output per year
Research output per year
- 27 results
Search results
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2025
Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders
Newton, F., Halachev, M., Nguyen, L., McKie, L., Mill, P. & Megaw, R., 29 Apr 2025, In: Nature Communications.Research output: Contribution to journal › Article › peer-review
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2024
Ciliary tip actin dynamics regulate photoreceptor outer segment integrity
Megaw, R., Moye, A., Zhang, Z., Newton, F., McPhie, F., Murphy, L., McKie, L., He, F., Jungnicke, M. K., von Kriegsheim, A., Tennant, P., Brotherton, C., Gurniak, C., Gross, A. K., Machesky, L. M., Wensel, T. G. & Mill, P., 21 May 2024, In: Nature Communications.Research output: Contribution to journal › Article › peer-review
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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Scottish Genomes Partnership, Genomics England Research Consortium & Undiagnosed Diseases Network, 26 Apr 2024, In: Science. 384, 6694Research output: Contribution to journal › Article › peer-review
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2023
Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis
Hall, E. A., Kumar, D., Prosser, S. L., Yeyati, P. L., Herranz-Pérez, V., García-Verdugo, J. M., Rose, L., Mckie, L., Dodd, D. O., Tennant, P. A., Megaw, R., Murphy, L. C., Ferreira, M. F., Grimes, G., Williams, L., Quidwai, T., Pelletier, L., Reiter, J. F. & Mill, P., 15 Feb 2023, In: eLIFE. 12, e79299.Research output: Contribution to journal › Article › peer-review
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2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, H. N., Bengani, H., Hufnagel, R. B., Damante, G., Ansari, M., Marsh, J. A., Grimes, G. R., Kriegsheim, A. V., Moore, D., McKie, L., Rahmat, J., Mio, C., Blyth, M., Keng, W. T., Islam, L., McEntargart, M., Mannens, M. M., Heyningen, V. V., Rainger, J. & Brooks, B. P. & 1 others, , Nov 2022, In: PLoS ONE. 17, 11, p. 1-21 20 p., e0268149.Research output: Contribution to journal › Article › peer-review
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The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism
Tingaud-sequeira, A., Mercier, E., Michaud, V., Pinson, B., Gazova, I., Gontier, E., Decoeur, F., Mckie, L., Jackson, I. J., Arveiler, B. & Javerzat, S., 27 Jun 2022, In: Genes. 13, 7, p. 1164 1164.Research output: Contribution to journal › Article › peer-review
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2021
A Mouse Model of Brittle Cornea Syndrome caused by mutation in Zfp469
Stanton, C., Findlay, A., Drake, C., Mustafa, Z., Gautier, P., McKie, L., Jackson, I. J. & Vitart, V., 22 Sept 2021, In: Disease Models and Mechanisms. 14, 9, dmm049175.Research output: Contribution to journal › Article › peer-review
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Dopachrome tautomerase variants in patients with oculocutaneous albinism
Pennamen, P., Tingaud-Sequeira, A., Gazova, I., Keighren, M., McKie, L., Marlin, S., Halem, S. G., Kaplan, J., Delevoye, C., Lacombe, D., Plaisant, C., Michaud, V., Lasseaux, E., Javerzat, S., Jackson, I. J. & Arveiler, B., 1 Mar 2021, In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
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2020
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification
Cross, S., McKie, L., Hurd, T., Riley, S., Wills, J., Barnard, A. R., Young, F., Maclaren, R. E. & Jackson, I., 1 Apr 2020, (E-pub ahead of print) In: PLoS Genetics.Research output: Contribution to journal › Article › peer-review
Open Access -
Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function
Findlay, A., McKie, L., Keighren, M., Clementson-Mobbs, S., Sanchez-Pulido, L., Wells, S., Cross, S. & Jackson, I., 16 Jan 2020, In: Scientific Reports. 10, 437.Research output: Contribution to journal › Article › peer-review
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2019
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects In the Mouse
Cross, S., McKie, L., Keighren, M., West, K., Thaung, C., Davey, T., Soares, D. C., Sanchez-Pulido, L. & Jackson, I. J., 1 Jul 2019, In: Investigative Ophthalmology & Visual Science (IOVS).Research output: Contribution to journal › Article › peer-review
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2018
Mouse Idh3a Mutations Cause Retinal Degeneration and Reduced Mitochondrial Function
Findlay, A., Carter, R. N., Starbuck, B., McKie, L., Novakova, K., Budd, P. S., Keighren, M., Marsh, J. A., Cross, S., Simon, M., Potter, P., Morton, N. M. & Jackson, I. J., Dec 2018, In: Disease Models and Mechanisms.Research output: Contribution to journal › Article › peer-review
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2017
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
Hall, E. A., Nahorski, M. S., Murray, L. M., Shaheen, R., Perkins, E., Dissanayake, K. N., Kristaryanto, Y., Jones, R. A., Vogt, J., Rivagorda, M., Handley, M. T., Mali, G. R., Quidwai, T., Soares, D. C., Keighren, M. A., McKie, L., Mort, R. L., Gammoh, N., Garcia-Munoz, A. & Davey, T. & 15 others, , 4 May 2017, In: American Journal of Human Genetics. 100, 5, p. 706-724Research output: Contribution to journal › Article › peer-review
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2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart, M., Williamson, K. A., Rainger, J. K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Lopaz Laso, E., Sanchez-Carpintero, R., Jesus, B., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J. & McKie, L. & 17 others, , 5 May 2016, In: American Journal of Human Genetics. 98, 5, p. 981-992 12 p.Research output: Contribution to journal › Article › peer-review
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2015
Mouse Slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction
Jadeja, S., Barnard, A. R., McKie, L., Cross, S. H., Sanger Mouse Genetics Project, S. M. G. P., Robertson, M., Budd, P. S., MacLaren, R. E. & Jackson, I. J., May 2015, In: Investigative Ophthalmology & Visual Science (IOVS). 56, 5Research output: Contribution to journal › Article › peer-review
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2014
A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton
Carpanini, S. M., McKie, L., Thomson, D., Wright, A. K., Gordon, S. L., Roche, S. L., Handley, M. T., Morrison, H., Brownstein, D., Wishart, T. M., Cousin, M. A., Gillingwater, T. H., Aligianis, I. A. & Jackson, I. J., 28 May 2014, In: Disease Models and Mechanisms. 7, 6, p. 711-722 12 p.Research output: Contribution to journal › Article › peer-review
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A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation
Cross, S. H., Macalinao, D. G., McKie, L., Rose, L., Kearney, A. L., Rainger, J., Thaung, C., Keighren, M., Jadeja, S., West, K., Kneeland, S. C., Smith, R. S., Howell, G. R., Young, F., Robertson, M., van t' Hof, R., John, S. W. M. & Jackson, I. J., 8 May 2014, In: PLoS Genetics. 10, 5, e1004359.Research output: Contribution to journal › Article › peer-review
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2012
Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases
Douvaras, P., Liu, W., Mort, R. L., McKie, L., West, K. M., Cross, S. H., Morley, S. D. & West, J. D., 2012, In: BMC Research Notes. 5, p. 122Research output: Contribution to journal › Article › peer-review
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2011
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
Rainger, J., van Beusekom, E., Ramsay, J. K., McKie, L., Al-Gazali, L., Pallotta, R., Saponari, A., Branney, P., Fisher, M., Morrison, H., Bicknell, L., Gautier, P., Perry, P., Sokhi, K., Sexton, D., Bardakjian, T. M., Schneider, A. S., Elcioglu, N., Ozkinay, F. & Koenig, R. & 16 others, , Jul 2011, In: PLoS Genetics. 7, 7, e1002114.Research output: Contribution to journal › Article › peer-review
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The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype
Cross, S. H., McKie, L., West, K., Coghill, E. L., Favor, J., Bhattacharya, S., Brown, S. D. M. & Jackson, I. J., 2011, In: Human Molecular Genetics. 20, 2, p. 223-34 12 p.Research output: Contribution to journal › Article › peer-review
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2010
GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice
Lang, B., Zhao, L., Cai, L., McKie, L., Forrester, J. V., McCaig, C. D., Jackson, I. J. & Shen, S., 2010, In: Neuropharmacology. 58, 1, p. 215-25 11 p.Research output: Contribution to journal › Article › peer-review
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2009
Palmitoylation regulates epidermal homeostasis and hair follicle differentiation
Mill, P., Lee, A. W. S., Fukata, Y., Tsutsumi, R., Fukata, M., Keighren, M., Porter, R. M., McKie, L., Smyth, I. & Jackson, I. J., Nov 2009, In: PLoS Genetics. 5, 11, e1000748.Research output: Contribution to journal › Article › peer-review
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2008
Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development
Webb, T. R., Cross, S. H., McKie, L., Edgar, R., Vizor, L., Harrison, J., Peters, J. & Jackson, I. J., 2008, In: Journal of Cell Science. 121, Pt 19, p. 3140-5 6 p.Research output: Contribution to journal › Article › peer-review
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2007
Humanized MC1R transgenic mice reveal human specific receptor function
Jackson, I. J., Budd, P. S., Keighren, M. & McKie, L., 1 Oct 2007, In: Human Molecular Genetics. 16, 19, p. 2341-8 8 p.Research output: Contribution to journal › Article › peer-review
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2006
Cardiac malformations and midline skeletal defects in mice lacking filamin A
Hart, A., Morgan, J. E., Schneider, J., West, K., McKie, L., Bhattacharya, S., Jackson, I. J. & Cross, S. H., 2006, In: Human Molecular Genetics. 15, 16, p. 2457-67 11 p.Research output: Contribution to journal › Article › peer-review
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2005
Genotype-phenotype correlation of mouse pde6b mutations
Hart, A., McKie, L., Morgan, J. E., Gautier, P., West, K., Jackson, I. J. & Cross, S. H., 2005, In: Investigative Ophthalmology & Visual Science (IOVS). 46, 9, p. 3443-50 8 p.Research output: Contribution to journal › Article › peer-review
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2004
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome
Cross, S. H., Morgan, J. E., Pattyn, A., West, K., McKie, L., Hart, A., Thaung, C., Brunet, J.-F. & Jackson, I. J., 15 Jul 2004, In: Human Molecular Genetics. 13, 14, p. 1433-9 7 p.Research output: Contribution to journal › Article › peer-review