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Page 1
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: mckie l. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Genotype-phenotype correlation of mouse pde6b mutations.
Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH. Hart AW, et al. Among authors: mckie l. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3443-50. doi: 10.1167/iovs.05-0254. Invest Ophthalmol Vis Sci. 2005. PMID: 16123450
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: mckie l. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.
Findlay AS, Carter RN, Starbuck B, McKie L, Nováková K, Budd PS, Keighren MA, Marsh JA, Cross SH, Simon MM, Potter PK, Morton NM, Jackson IJ. Findlay AS, et al. Among authors: mckie l. Dis Model Mech. 2018 Dec 18;11(12):dmm036426. doi: 10.1242/dmm.036426. Dis Model Mech. 2018. PMID: 30478029 Free PMC article.
A mouse model of brittle cornea syndrome caused by mutation in Zfp469.
Stanton CM, Findlay AS, Drake C, Mustafa MZ, Gautier P, McKie L, Jackson IJ, Vitart V. Stanton CM, et al. Among authors: mckie l. Dis Model Mech. 2021 Sep 1;14(9):dmm049175. doi: 10.1242/dmm.049175. Epub 2021 Sep 22. Dis Model Mech. 2021. PMID: 34368841 Free PMC article.
Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis.
Hall EA, Kumar D, Prosser SL, Yeyati PL, Herranz-Pérez V, García-Verdugo JM, Rose L, McKie L, Dodd DO, Tennant PA, Megaw R, Murphy LC, Ferreira MF, Grimes G, Williams L, Quidwai T, Pelletier L, Reiter JF, Mill P. Hall EA, et al. Among authors: mckie l. Elife. 2023 Feb 15;12:e79299. doi: 10.7554/eLife.79299. Elife. 2023. PMID: 36790165 Free PMC article.
Ciliary tip actin dynamics regulate photoreceptor outer segment integrity.
Megaw R, Moye A, Zhang Z, Newton F, McPhie F, Murphy LC, McKie L, He F, Jungnickel MK, von Kriegsheim A, Tennant PA, Brotherton C, Gurniak C, Gross AK, Machesky LM, Wensel TG, Mill P. Megaw R, et al. Among authors: mckie l. Nat Commun. 2024 May 21;15(1):4316. doi: 10.1038/s41467-024-48639-w. Nat Commun. 2024. PMID: 38773095 Free PMC article.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Among authors: mckie l. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR. Hall HN, et al. Among authors: mckie l. PLoS One. 2022 Nov 22;17(11):e0268149. doi: 10.1371/journal.pone.0268149. eCollection 2022. PLoS One. 2022. PMID: 36413568 Free PMC article.
89 results