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197 related items for PubMed ID: 38852887

  • 1. Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.
    Hallam TM, Andreadi A, Sharp SJ, Brocklebank V, Gardenal E, Dreismann A, SCOPE Study Group, Lotery AJ, Marchbank KJ, Harris CL, Jones AV, Kavanagh D.
    J Biol Chem; 2024 Jul; 300(7):107452. PubMed ID: 38852887
    [Abstract] [Full Text] [Related]

  • 2. Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
    de Jong S, de Breuk A, Bakker B, Katti S, Hoyng CB, Nilsson SC, Blom AM, van den Heuvel LP, den Hollander AI, Volokhina EB.
    Front Immunol; 2021 Jul; 12():789897. PubMed ID: 35069568
    [Abstract] [Full Text] [Related]

  • 3. The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.
    Geerlings MJ, Kremlitzka M, Bakker B, Nilsson SC, Saksens NT, Lechanteur YT, Pauper M, Corominas J, Fauser S, Hoyng CB, Blom AM, de Jong EK, den Hollander AI.
    JAMA Ophthalmol; 2017 Jan 01; 135(1):39-46. PubMed ID: 27918759
    [Abstract] [Full Text] [Related]

  • 4. A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.
    Hallam TM, Cox TE, Smith-Jackson K, Brocklebank V, Baral AJ, Tzoumas N, Steel DH, Wong EKS, Shuttleworth VG, Lotery AJ, Harris CL, Marchbank KJ, Kavanagh D.
    Front Immunol; 2022 Jan 01; 13():1028760. PubMed ID: 36643920
    [Abstract] [Full Text] [Related]

  • 5. Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
    Geerlings MJ, Volokhina EB, de Jong EK, van de Kar N, Pauper M, Hoyng CB, van den Heuvel LP, den Hollander AI.
    Clin Genet; 2018 Oct 01; 94(3-4):330-338. PubMed ID: 29888403
    [Abstract] [Full Text] [Related]

  • 6. Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.
    Java A, Baciu P, Widjajahakim R, Sung YJ, Yang J, Kavanagh D, Atkinson J, Seddon J.
    Transl Vis Sci Technol; 2020 Aug 01; 9(9):37. PubMed ID: 32908800
    [Abstract] [Full Text] [Related]

  • 7. Effect of rare coding variants in the CFI gene on Factor I expression levels.
    de Jong S, Volokhina EB, de Breuk A, Nilsson SC, de Jong EK, van der Kar NCAJ, Bakker B, Hoyng CB, van den Heuvel LP, Blom AM, den Hollander AI.
    Hum Mol Genet; 2020 Aug 11; 29(14):2313-2324. PubMed ID: 32510551
    [Abstract] [Full Text] [Related]

  • 8. Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.
    Hallam TM, Marchbank KJ, Harris CL, Osmond C, Shuttleworth VG, Griffiths H, Cree AJ, Kavanagh D, Lotery AJ.
    Invest Ophthalmol Vis Sci; 2020 Jun 03; 61(6):18. PubMed ID: 32516404
    [Abstract] [Full Text] [Related]

  • 9. Complement Factor I Variants in Complement-Mediated Renal Diseases.
    Zhang Y, Goodfellow RX, Ghiringhelli Borsa N, Dunlop HC, Presti SA, Meyer NC, Shao D, Roberts SM, Jones MB, Pitcher GR, Taylor AO, Nester CM, Smith RJH.
    Front Immunol; 2022 Jun 03; 13():866330. PubMed ID: 35619721
    [Abstract] [Full Text] [Related]

  • 10. Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.
    Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner EK, Raychaudhuri S, Daly MJ, Atkinson JP, Seddon JM.
    Hum Mol Genet; 2015 Jul 01; 24(13):3861-70. PubMed ID: 25788521
    [Abstract] [Full Text] [Related]

  • 11. Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
    Khan AH, Sutton J, Cree AJ, Khandhadia S, De Salvo G, Tobin J, Prakash P, Arora R, Amoaku W, Charbel Issa P, MacLaren RE, Bishop PN, Peto T, Mohamed Q, Steel DH, Sivaprasad S, Bailey C, Menon G, Kavanagh D, Lotery AJ.
    Hum Mutat; 2021 Sep 01; 42(9):1139-1152. PubMed ID: 34153144
    [Abstract] [Full Text] [Related]

  • 12. Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.
    Tan PL, Garrett ME, Willer JR, Campochiaro PA, Campochiaro B, Zack DJ, Ashley-Koch AE, Katsanis N.
    Invest Ophthalmol Vis Sci; 2017 Mar 01; 58(3):1570-1576. PubMed ID: 28282489
    [Abstract] [Full Text] [Related]

  • 13. A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation.
    Nilsson SC, Karpman D, Vaziri-Sani F, Kristoffersson AC, Salomon R, Provot F, Fremeaux-Bacchi V, Trouw LA, Blom AM.
    Mol Immunol; 2007 Mar 01; 44(8):1835-44. PubMed ID: 17084897
    [Abstract] [Full Text] [Related]

  • 14. Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
    Saksens NT, Geerlings MJ, Bakker B, Schick T, Daha MR, Fauser S, Boon CJ, de Jong EK, Hoyng CB, den Hollander AI.
    JAMA Ophthalmol; 2016 Mar 01; 134(3):287-93. PubMed ID: 26767664
    [Abstract] [Full Text] [Related]

  • 15. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
    Reynolds R, Hartnett ME, Atkinson JP, Giclas PC, Rosner B, Seddon JM.
    Invest Ophthalmol Vis Sci; 2009 Dec 01; 50(12):5818-27. PubMed ID: 19661236
    [Abstract] [Full Text] [Related]

  • 16. Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
    Seddon JM, Rosner B, De D, Huan T, Java A, Atkinson J.
    Ophthalmol Sci; 2023 Jun 01; 3(2):100265. PubMed ID: 36909148
    [Abstract] [Full Text] [Related]

  • 17. Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.
    Kavanagh D, Richards A, Noris M, Hauhart R, Liszewski MK, Karpman D, Goodship JA, Fremeaux-Bacchi V, Remuzzi G, Goodship TH, Atkinson JP.
    Mol Immunol; 2008 Jan 01; 45(1):95-105. PubMed ID: 17597211
    [Abstract] [Full Text] [Related]

  • 18. Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
    Hallam TM, Sharp SJ, Andreadi A, Kavanagh D.
    Immunobiology; 2023 Sep 01; 228(5):152410. PubMed ID: 37478687
    [Abstract] [Full Text] [Related]

  • 19. Dual roles of different redox forms of complement factor H in protecting against age related macular degeneration.
    Krilis M, Qi M, Qi J, Wong JWH, Guymer R, Liew G, Hunyor AP, Madigan M, McCluskey P, Weaver J, Krilis SA, Giannakopoulos B.
    Free Radic Biol Med; 2018 Dec 01; 129():237-246. PubMed ID: 30253188
    [Abstract] [Full Text] [Related]

  • 20. Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.
    Wong EKS, Hallam TM, Brocklebank V, Walsh PR, Smith-Jackson K, Shuttleworth VG, Cox TE, Anderson HE, Barlow PN, Marchbank KJ, Harris CL, Kavanagh D.
    Front Immunol; 2020 Dec 01; 11():602284. PubMed ID: 33519811
    [Abstract] [Full Text] [Related]

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