McKie L - Search Results

1

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: mckie l. 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.

2

Novel ENU-induced eye mutations in the mouse: models for human eye disease.

Thaung C, West K, Clark BJ, McKie L, Morgan JE, Arnold K, Nolan PM, Peters J, Hunter AJ, Brown SD, Jackson IJ, Cross SH. Thaung C, et al. Among authors: mckie l. Hum Mol Genet. 2002 Apr 1;11(7):755-67. doi: 10.1093/hmg/11.7.755. Hum Mol Genet. 2002. PMID: 11929848

3

Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.

Cross SH, Morgan JE, Pattyn A, West K, McKie L, Hart A, Thaung C, Brunet JF, Jackson IJ. Cross SH, et al. Among authors: mckie l. Hum Mol Genet. 2004 Jul 15;13(14):1433-9. doi: 10.1093/hmg/ddh156. Epub 2004 May 18. Hum Mol Genet. 2004. PMID: 15150159

4

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

5

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

Van Agtmael T, Schlötzer-Schrehardt U, McKie L, Brownstein DG, Lee AW, Cross SH, Sado Y, Mullins JJ, Pöschl E, Jackson IJ. Van Agtmael T, et al. Among authors: mckie l. Hum Mol Genet. 2005 Nov 1;14(21):3161-8. doi: 10.1093/hmg/ddi348. Epub 2005 Sep 13. Hum Mol Genet. 2005. PMID: 16159887

6

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

Hart AW, Morgan JE, Schneider J, West K, McKie L, Bhattacharya S, Jackson IJ, Cross SH. Hart AW, et al. Among authors: mckie l. Hum Mol Genet. 2006 Aug 15;15(16):2457-67. doi: 10.1093/hmg/ddl168. Epub 2006 Jul 6. Hum Mol Genet. 2006. PMID: 16825286

7

Humanized MC1R transgenic mice reveal human specific receptor function.

Jackson IJ, Budd PS, Keighren M, McKie L. Jackson IJ, et al. Among authors: mckie l. Hum Mol Genet. 2007 Oct 1;16(19):2341-8. doi: 10.1093/hmg/ddm191. Epub 2007 Jul 25. Hum Mol Genet. 2007. PMID: 17652101

8

Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development.

Webb TR, Cross SH, McKie L, Edgar R, Vizor L, Harrison J, Peters J, Jackson IJ. Webb TR, et al. Among authors: mckie l. J Cell Sci. 2008 Oct 1;121(Pt 19):3140-5. doi: 10.1242/jcs.035550. Epub 2008 Sep 2. J Cell Sci. 2008. PMID: 18765564 Free PMC article.

9

GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice.

Lang B, Zhao L, Cai L, McKie L, Forrester JV, McCaig CD, Jackson IJ, Shen S. Lang B, et al. Among authors: mckie l. Neuropharmacology. 2010 Jan;58(1):215-25. doi: 10.1016/j.neuropharm.2009.07.003. Epub 2009 Jul 9. Neuropharmacology. 2010. PMID: 19596361

10

Palmitoylation regulates epidermal homeostasis and hair follicle differentiation.

Mill P, Lee AW, Fukata Y, Tsutsumi R, Fukata M, Keighren M, Porter RM, McKie L, Smyth I, Jackson IJ. Mill P, et al. Among authors: mckie l. PLoS Genet. 2009 Nov;5(11):e1000748. doi: 10.1371/journal.pgen.1000748. Epub 2009 Nov 26. PLoS Genet. 2009. PMID: 19956733 Free PMC article.

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