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Journal Abstract Search

406 related items for PubMed ID: 17666404

  • 1. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
    Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA.
    Hum Mol Genet; 2007 Oct 15; 16(20):2411-22. PubMed ID: 17666404
    [Abstract] [Full Text] [Related]

  • 2. Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.
    Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD.
    Hum Mol Genet; 2007 Oct 15; 16(20):2423-32. PubMed ID: 17664227
    [Abstract] [Full Text] [Related]

  • 3. Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.
    Garland DL, Fernandez-Godino R, Kaur I, Speicher KD, Harnly JM, Lambris JD, Speicher DW, Pierce EA.
    Hum Mol Genet; 2014 Jan 01; 23(1):52-68. PubMed ID: 23943789
    [Abstract] [Full Text] [Related]

  • 4. Analysis of the EFEMP1 gene in individuals and families with early onset drusen.
    Narendran N, Guymer RH, Cain M, Baird PN.
    Eye (Lond); 2005 Jan 01; 19(1):11-5. PubMed ID: 15218514
    [Abstract] [Full Text] [Related]

  • 5. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
    Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF.
    Nat Genet; 1999 Jun 01; 22(2):199-202. PubMed ID: 10369267
    [Abstract] [Full Text] [Related]

  • 6. A local complement response by RPE causes early-stage macular degeneration.
    Fernandez-Godino R, Garland DL, Pierce EA.
    Hum Mol Genet; 2015 Oct 01; 24(19):5555-69. PubMed ID: 26199322
    [Abstract] [Full Text] [Related]

  • 7. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
    Marmorstein L.
    Ophthalmic Genet; 2004 Sep 01; 25(3):219-26. PubMed ID: 15512998
    [Abstract] [Full Text] [Related]

  • 8. Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
    Michaelides M, Jenkins SA, Brantley MA, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.
    Invest Ophthalmol Vis Sci; 2006 Jul 01; 47(7):3085-97. PubMed ID: 16799055
    [Abstract] [Full Text] [Related]

  • 9. Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD).
    Ramkumar HL, Zhang J, Chan CC.
    Prog Retin Eye Res; 2010 May 01; 29(3):169-90. PubMed ID: 20206286
    [Abstract] [Full Text] [Related]

  • 10. Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice.
    McLaughlin PJ, Bakall B, Choi J, Liu Z, Sasaki T, Davis EC, Marmorstein AD, Marmorstein LY.
    Hum Mol Genet; 2007 Dec 15; 16(24):3059-70. PubMed ID: 17872905
    [Abstract] [Full Text] [Related]

  • 11. Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes.
    Stanton JB, Marmorstein AD, Zhang Y, Marmorstein LY.
    Invest Ophthalmol Vis Sci; 2017 Mar 01; 58(3):1455-1461. PubMed ID: 28264101
    [Abstract] [Full Text] [Related]

  • 12. Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.
    Guymer RH, McNeil R, Cain M, Tomlin B, Allen PJ, Dip CL, Baird PN.
    Clin Exp Ophthalmol; 2002 Dec 01; 30(6):419-23. PubMed ID: 12427233
    [Abstract] [Full Text] [Related]

  • 13. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
    Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD.
    Proc Natl Acad Sci U S A; 2002 Oct 01; 99(20):13067-72. PubMed ID: 12242346
    [Abstract] [Full Text] [Related]

  • 14. Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).
    Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC.
    Eye (Lond); 2002 Jan 01; 16(1):7-15. PubMed ID: 11913893
    [Abstract] [Full Text] [Related]

  • 15. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
    Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF.
    Hum Mol Genet; 2003 Oct 15; 12(20):2657-67. PubMed ID: 12944416
    [Abstract] [Full Text] [Related]

  • 16. Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane.
    Zayas-Santiago A, Cross SD, Stanton JB, Marmorstein AD, Marmorstein LY.
    Invest Ophthalmol Vis Sci; 2017 Jun 01; 58(7):3046-3054. PubMed ID: 28622396
    [Abstract] [Full Text] [Related]

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  • 18. Bruch's membrane changes in transgenic mice overexpressing the human biglycan and apolipoprotein b-100 genes.
    Sallo FB, Bereczki E, Csont T, Luthert PJ, Munro P, Ferdinandy P, Sántha M, Lengyel I.
    Exp Eye Res; 2009 Aug 01; 89(2):178-86. PubMed ID: 19324038
    [Abstract] [Full Text] [Related]

  • 19. Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.
    Crowley MA, Garland DL, Sellner H, Banks A, Fan L, Rejtar T, Buchanan N, Delgado O, Xu YY, Jose S, Adams CM, Mogi M, Wang K, Bigelow CE, Poor S, Anderson K, Jaffee BD, Prasanna G, Grosskreutz C, Fernandez-Godino R, Pierce EA, Dryja TP, Liao SM.
    Hum Mol Genet; 2023 Jan 06; 32(2):204-217. PubMed ID: 35943778
    [Abstract] [Full Text] [Related]

  • 20. Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
    Hulleman JD.
    Adv Exp Med Biol; 2016 Jan 06; 854():153-8. PubMed ID: 26427406
    [Abstract] [Full Text] [Related]

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