Publications by authors named "Lisa Mckie"

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A Dominant Mutation in Gs-Protein Increases Hair Pigmentation.
Philip S Goff, Peter Budd, Darren W Logan, Margaret Keighren, Marta Cantero, Lisa McKie

Pigment Cell Melanoma Res· May 2025

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Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.
Fay Newton, Mihail Halachev, Linda Nguyen, Lisa McKie, Pleasantine Mill

Nat Commun· April 2025

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Ciliary tip actin dynamics regulate photoreceptor outer segment integrity.
Roly Megaw, Abigail Moye, Zhixian Zhang, Fay Newton, Fraser McPhie, Lisa McKie

Nat Commun· May 2024

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Lisa McKie

Science· April 2024

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Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis.
Emma A Hall, Dhivya Kumar, Suzanna L Prosser, Patricia L Yeyati, Vicente Herranz-Pérez, Lisa McKie

Elife· February 2023

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Lisa McKie

PLoS One· November 2022

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The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
Angèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud, Benoît Pinson, Ivet Gazova, Lisa McKie

Genes (Basel)· June 2022

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A mouse model of brittle cornea syndrome caused by mutation in Zfp469.
Chloe M Stanton, Amy S Findlay, Camilla Drake, Mohammad Z Mustafa, Philippe Gautier, Lisa McKie

Dis Model Mech· September 2021

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Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Perrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, Margaret Keighren, Lisa McKie

Genet Med· March 2021

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The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.
Sally H Cross, Lisa Mckie, Toby W Hurd, Sam Riley, Jimi Wills

PLoS Genet· April 2020

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Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function.
Amy S Findlay, Lisa McKie, Margaret Keighren, Sharon Clementson-Mobbs, Luis Sanchez-Pulido

Sci Rep· January 2020

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Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.
Sally H Cross, Lisa Mckie, Margaret Keighren, Katrine West, Caroline Thaung

Invest Ophthalmol Vis Sci· July 2019

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Mouse mutations cause retinal degeneration and reduced mitochondrial function.
Amy S Findlay, Roderick N Carter, Becky Starbuck, Lisa McKie, Klára Nováková

Dis Model Mech· December 2018

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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali

PLoS Genet· December 2018

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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Emma A Hall, Michael S Nahorski, Lyndsay M Murray, Ranad Shaheen, Emma Perkins, Lisa McKie

Am J Hum Genet· May 2017

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Lisa McKie

Am J Hum Genet· May 2016

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Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction.
Shalini Jadeja, Alun R Barnard, Lisa McKie, Sally H Cross, Jacqueline K White

Invest Ophthalmol Vis Sci· May 2015

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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.
Sarah M Carpanini, Lisa McKie, Derek Thomson, Ann K Wright, Sarah L Gordon

Dis Model Mech· June 2014

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A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney

PLoS Genet· May 2014

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Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases.
Panagiotis Douvaras, Weijia Liu, Richard L Mort, Lisa McKie, Katrine M West

BMC Res Notes· February 2012

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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali

PLoS Genet· July 2011

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The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
Sally H Cross, Lisa McKie, Katrine West, Emma L Coghill, Jack Favor

Hum Mol Genet· January 2011

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GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice.
Bing Lang, Lei Zhao, Li Cai, Lisa McKie, John V Forrester

Neuropharmacology· January 2010

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Palmitoylation regulates epidermal homeostasis and hair follicle differentiation.
Pleasantine Mill, Angela W S Lee, Yuko Fukata, Ryouhei Tsutsumi, Masaki Fukata, Lisa McKie

PLoS Genet· November 2009

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Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development.
Tom R Webb, Sally H Cross, Lisa McKie, Ruth Edgar, Lucie Vizor

J Cell Sci· October 2008

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