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Page 1
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: gautier p. 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.
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: gautier p. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3443-50. doi: 10.1167/iovs.05-0254. Invest Ophthalmol Vis Sci. 2005. PMID: 16123450
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J, van Beusekom E, Ramsay JK, 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 TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR. Rainger J, et al. Among authors: gautier p. PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7. PLoS Genet. 2011. PMID: 21750680 Free PMC article.
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P. Diggle CP, et al. Among authors: gautier p. PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25232951 Free PMC article.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Rainger J, van Beusekom E, Ramsay JK, 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 TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR. Rainger J, et al. Among authors: gautier p. PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586382 Free PMC article.
Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse.
Hernandez-Moran BA, Papanastasiou AS, Parry D, Meynert A, Gautier P, Grimes G, Adams IR, Trejo-Reveles V, Bengani H, Keighren M, Jackson IJ, Adams DJ, FitzPatrick DR, Rainger J. Hernandez-Moran BA, et al. Among authors: gautier p. Genes (Basel). 2022 Oct 5;13(10):1797. doi: 10.3390/genes13101797. Genes (Basel). 2022. PMID: 36292683 Free PMC article.
Genetically engineered multicistronic allele of Pmel yielding highly specific CreERT2-mediated recombination in the melanocyte lineage.
Wilkinson EL, Brennan LC, Harrison OJ, Crane-Smith Z, Gautier P, Keighren MA, Budd P, Swaminathan K, Machesky LM, Allinson SL, Jackson IJ, Mort RL. Wilkinson EL, et al. Among authors: gautier p. Pigment Cell Melanoma Res. 2023 Jan;36(1):71-77. doi: 10.1111/pcmr.13076. Epub 2022 Dec 19. Pigment Cell Melanoma Res. 2023. PMID: 36412082 Free PMC article.
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: gautier p. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
330 results