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135 related items for PubMed ID: 12942551

  • 1. Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.
    Soboleva G, Geis B, Schrewe H, Weber BH.
    J Cell Physiol; 2003 Oct; 197(1):149-56. PubMed ID: 12942551
    [Abstract] [Full Text] [Related]

  • 2. A mouse model for Sorsby fundus dystrophy.
    Weber BH, Lin B, White K, Kohler K, Soboleva G, Herterich S, Seeliger MW, Jaissle GB, Grimm C, Reme C, Wenzel A, Asan E, Schrewe H.
    Invest Ophthalmol Vis Sci; 2002 Aug; 43(8):2732-40. PubMed ID: 12147610
    [Abstract] [Full Text] [Related]

  • 3. Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy.
    Fogarasi M, Janssen A, Weber BH, Stöhr H.
    Matrix Biol; 2008 Jun; 27(5):381-92. PubMed ID: 18295466
    [Abstract] [Full Text] [Related]

  • 4. A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.
    Lin RJ, Blumenkranz MS, Binkley J, Wu K, Vollrath D.
    Am J Ophthalmol; 2006 Nov; 142(5):839-48. PubMed ID: 16989765
    [Abstract] [Full Text] [Related]

  • 5. TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.
    Li Z, Clarke MP, Barker MD, McKie N.
    Expert Rev Mol Med; 2005 Oct 31; 7(24):1-15. PubMed ID: 16259644
    [Abstract] [Full Text] [Related]

  • 6. Sorsby fundus dystrophy - A review of pathology and disease mechanisms.
    Christensen DRG, Brown FE, Cree AJ, Ratnayaka JA, Lotery AJ.
    Exp Eye Res; 2017 Dec 31; 165():35-46. PubMed ID: 28847738
    [Abstract] [Full Text] [Related]

  • 7. In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy.
    Hongisto H, Dewing JM, Christensen DR, Scott J, Cree AJ, Nättinen J, Määttä J, Jylhä A, Aapola U, Uusitalo H, Kaarniranta K, Ratnayaka JA, Skottman H, Lotery AJ.
    J Pathol; 2020 Oct 31; 252(2):138-150. PubMed ID: 32666594
    [Abstract] [Full Text] [Related]

  • 8. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.
    Weber BH, Vogt G, Pruett RC, Stöhr H, Felbor U.
    Nat Genet; 1994 Dec 31; 8(4):352-6. PubMed ID: 7894485
    [Abstract] [Full Text] [Related]

  • 9. Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.
    Janssen A, Hoellenriegel J, Fogarasi M, Schrewe H, Seeliger M, Tamm E, Ohlmann A, May CA, Weber BH, Stöhr H.
    Invest Ophthalmol Vis Sci; 2008 Jul 31; 49(7):2812-22. PubMed ID: 18408187
    [Abstract] [Full Text] [Related]

  • 10. The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
    Naessens S, De Zaeytijd J, Syx D, Vandenbroucke RE, Smeets F, Van Cauwenbergh C, Leroy BP, Peelman F, Coppieters F.
    Hum Mutat; 2019 May 31; 40(5):539-551. PubMed ID: 30668888
    [Abstract] [Full Text] [Related]

  • 11. Deglycosylation Increases the Aggregation and Angiogenic Properties of Mutant Tissue Inhibitor of Metalloproteinase 3 Protein: Implications for Sorsby Fundus Dystrophy.
    Qi JH, Anand-Apte B.
    Int J Mol Sci; 2022 Nov 17; 23(22):. PubMed ID: 36430707
    [Abstract] [Full Text] [Related]

  • 12. Matrix bound SFD mutant TIMP-3 is more stable than wild type TIMP-3.
    Majid MA, Smith VA, Newby AC, Dick AD.
    Br J Ophthalmol; 2007 Aug 17; 91(8):1073-6. PubMed ID: 17383996
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Sorsby fundus dystrophy: Insights from the past and looking to the future.
    Anand-Apte B, Chao JR, Singh R, Stöhr H.
    J Neurosci Res; 2019 Jan 15; 97(1):88-97. PubMed ID: 30129971
    [Abstract] [Full Text] [Related]

  • 15. Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa.
    Fariss RN, Apte SS, Luthert PJ, Bird AC, Milam AH.
    Br J Ophthalmol; 1998 Nov 15; 82(11):1329-34. PubMed ID: 9924344
    [Abstract] [Full Text] [Related]

  • 16. Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3).
    Stöhr H, Roomp K, Felbor U, Weber BH.
    Genome Res; 1995 Dec 15; 5(5):483-7. PubMed ID: 8808469
    [Abstract] [Full Text] [Related]

  • 17. Analysis of the collagen VI assemblies associated with Sorsby's fundus dystrophy.
    Knupp C, Chong NH, Munro PM, Luthert PJ, Squire JM.
    J Struct Biol; 2002 Dec 15; 137(1-2):31-40. PubMed ID: 12064931
    [Abstract] [Full Text] [Related]

  • 18. Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix.
    Yeow KM, Kishnani NS, Hutton M, Hawkes SP, Murphy G, Edwards DR.
    Matrix Biol; 2002 Jan 15; 21(1):75-88. PubMed ID: 11827795
    [Abstract] [Full Text] [Related]

  • 19. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies.
    Felbor U, Doepner D, Schneider U, Zrenner E, Weber BH.
    Invest Ophthalmol Vis Sci; 1997 May 15; 38(6):1054-9. PubMed ID: 9152224
    [Abstract] [Full Text] [Related]

  • 20. Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism.
    Qi JH, Bell B, Singh R, Batoki J, Wolk A, Cutler A, Prayson N, Ali M, Stoehr H, Anand-Apte B.
    Sci Rep; 2019 Nov 22; 9(1):17429. PubMed ID: 31757977
    [Abstract] [Full Text] [Related]

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