BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

120 related articles for article (PubMed ID: 27777122)

  • 1. Mapping wild-type and R345W fibulin-3 intracellular interactomes.
    Hulleman JD; Genereux JC; Nguyen A
    Exp Eye Res; 2016 Dec; 153():165-169. PubMed ID: 27777122
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.
    Hulleman JD; Kelly JW
    FASEB J; 2015 Feb; 29(2):565-75. PubMed ID: 25389134
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins.
    Nguyen A; Hulleman JD
    Exp Eye Res; 2015 Jan; 130():66-72. PubMed ID: 25481286
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression.
    Roybal CN; Marmorstein LY; Vander Jagt DL; Abcouwer SF
    Invest Ophthalmol Vis Sci; 2005 Nov; 46(11):3973-9. PubMed ID: 16249470
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
    Daniel S; Renwick M; Chau VQ; Datta S; Maddineni P; Zode G; Wade EM; Robertson SP; Petroll WM; Hulleman JD
    J Mol Med (Berl); 2020 Nov; 98(11):1639-1656. PubMed ID: 32964303
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
    Woodard DR; Nakahara E; Hulleman JD
    Sci Rep; 2021 Feb; 11(1):2998. PubMed ID: 33542268
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 16(20):2411-22. PubMed ID: 17666404
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A high-throughput cell-based Gaussia luciferase reporter assay for identifying modulators of fibulin-3 secretion.
    Hulleman JD; Brown SJ; Rosen H; Kelly JW
    J Biomol Screen; 2013 Jul; 18(6):647-58. PubMed ID: 23230284
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 47(7):3085-97. PubMed ID: 16799055
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.
    Vaclavik V; Tran HV; Schorderet Md PhD DF
    Ophthalmol Retina; 2020 Oct; 4(10):1023. PubMed ID: 33019987
    [No Abstract]   [Full Text] [Related]  

  • 12. Translational attenuation differentially alters the fate of disease-associated fibulin proteins.
    Hulleman JD; Balch WE; Kelly JW
    FASEB J; 2012 Nov; 26(11):4548-60. PubMed ID: 22872678
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GSK3 inhibition reduces ECM production and prevents age-related macular degeneration-like pathology.
    DiCesare SM; Ortega AJ; Collier GE; Daniel S; Thompson KN; McCoy MK; Posner BA; Hulleman JD
    bioRxiv; 2023 Dec; ():. PubMed ID: 38168310
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.
    Hulleman JD; Kaushal S; Balch WE; Kelly JW
    Mol Biol Cell; 2011 Dec; 22(24):4765-75. PubMed ID: 22031286
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.
    Tsuruma K; Nishimura Y; Kishi S; Shimazawa M; Tanaka T; Hara H
    Invest Ophthalmol Vis Sci; 2012 Sep; 53(10):6729-37. PubMed ID: 22956603
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 22(2):199-202. PubMed ID: 10369267
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
    Hu Q; Loeys BL; Coucke PJ; De Paepe A; Mecham RP; Choi J; Davis EC; Urban Z
    Hum Mol Genet; 2006 Dec; 15(23):3379-86. PubMed ID: 17035250
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expression of R345W-Fibulin-3 Induces Epithelial-Mesenchymal Transition in Retinal Pigment Epithelial Cells.
    Zhou M; Weber SR; Zhao Y; Chen H; Barber AJ; Grillo SL; Wills CA; Wang HG; Hulleman JD; Sundstrom JM
    Front Cell Dev Biol; 2020; 8():469. PubMed ID: 32637411
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.
    Sheyanth IN; Lolas IB; Okkels H; Kiruparajan LP; Abildgaard SK; Petersen MB
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1652. PubMed ID: 33689237
    [TBL] [Abstract][Full Text] [Related]  

  • 20. EFEMP1 is not associated with sporadic early onset drusen.
    Sauer CG; White K; Kellner U; Rudolph G; Jurklies B; Pauleikhoff D; Weber BH
    Ophthalmic Genet; 2001 Mar; 22(1):27-34. PubMed ID: 11262647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.