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Journal Abstract Search

281 related items for PubMed ID: 12242346

  • 1. 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
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  • 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
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  • 3. 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
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  • 4. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations.
    Klenotic PA, Munier FL, Marmorstein LY, Anand-Apte B.
    J Biol Chem; 2004 Jul 16; 279(29):30469-73. PubMed ID: 15123717
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  • 5. 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 16; 30(6):419-23. PubMed ID: 12427233
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  • 7. 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
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  • 11. 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
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  • 12. Autophagy and exosomes in the aged retinal pigment epithelium: possible relevance to drusen formation and age-related macular degeneration.
    Wang AL, Lukas TJ, Yuan M, Du N, Tso MO, Neufeld AH.
    PLoS One; 2009 Jun 01; 4(1):e4160. PubMed ID: 19129916
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  • 17. Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.
    Sohn EH, Wang K, Thompson S, Riker MJ, Hoffmann JM, Stone EM, Mullins RF.
    Retina; 2015 Jan 01; 35(1):48-57. PubMed ID: 25077532
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  • 19. [Fundus autofluorescence in patients with hereditary macular dystrophies, malattia leventinese, familial dominant and aged-related drusen].
    von Rückmann A, Schmidt KG, Fitzke FW, Bird AC, Jacobi KW.
    Klin Monbl Augenheilkd; 1998 Aug 01; 213(2):81-6. PubMed ID: 9782465
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