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A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
Cross SH, Macalinao DG, McKie L, Rose L, Kearney AL, Rainger J, Thaung C, Keighren M, Jadeja S, West K, Kneeland SC, Smith RS, Howell GR, Young F, Robertson M, van T' Hof R, John SW, Jackson IJ. Cross SH, et al. Among authors: john sw. PLoS Genet. 2014 May 8;10(5):e1004359. doi: 10.1371/journal.pgen.1004359. eCollection 2014 May. PLoS Genet. 2014. PMID: 24809698 Free PMC article.
Anterior segment development relevant to glaucoma.
Gould DB, Smith RS, John SW. Gould DB, et al. Among authors: john sw. Int J Dev Biol. 2004;48(8-9):1015-29. doi: 10.1387/ijdb.041865dg. Int J Dev Biol. 2004. PMID: 15558492 Free article. Review.
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.
Nair KS, Hmani-Aifa M, Ali Z, Kearney AL, Ben Salem S, Macalinao DG, Cosma IM, Bouassida W, Hakim B, Benzina Z, Soto I, Söderkvist P, Howell GR, Smith RS, Ayadi H, John SW. Nair KS, et al. Among authors: john sw. Nat Genet. 2011 Jun;43(6):579-84. doi: 10.1038/ng.813. Epub 2011 May 1. Nat Genet. 2011. PMID: 21532570 Free PMC article.
148 results