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Mouse models of age-related macular degeneration.
Elizabeth Rakoczy P, Yu MJ, Nusinowitz S, Chang B, Heckenlively JR. Elizabeth Rakoczy P, et al. Among authors: heckenlively jr. Exp Eye Res. 2006 May;82(5):741-52. doi: 10.1016/j.exer.2005.10.012. Epub 2005 Dec 1. Exp Eye Res. 2006. PMID: 16325179 Review.
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. Chang B, et al. Among authors: heckenlively jr. Hum Mol Genet. 2006 Jun 1;15(11):1847-57. doi: 10.1093/hmg/ddl107. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632484 Free PMC article.
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: heckenlively jr. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.
Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J. Gao J, et al. Among authors: heckenlively jr. Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5698-703. doi: 10.1073/pnas.042122399. Proc Natl Acad Sci U S A. 2002. PMID: 11960024 Free PMC article.
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
Friedman JS, Chang B, Krauth DS, Lopez I, Waseem NH, Hurd RE, Feathers KL, Branham KE, Shaw M, Thomas GE, Brooks MJ, Liu C, Bakeri HA, Campos MM, Maubaret C, Webster AR, Rodriguez IR, Thompson DA, Bhattacharya SS, Koenekoop RK, Heckenlively JR, Swaroop A. Friedman JS, et al. Among authors: heckenlively jr. Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15523-8. doi: 10.1073/pnas.1002897107. Epub 2010 Aug 16. Proc Natl Acad Sci U S A. 2010. PMID: 20713727 Free PMC article.
242 results