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197 related items for PubMed ID: 38852887
21. An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access. Jones AV, Curtiss D, Harris C, Southerington T, Hautalahti M, Wihuri P, Mäkelä J, Kallionpää RE, Makkonen E, Knopp T, Mannermaa A, Mäkinen E, Moilanen AM, Tezel TH, SCOPE Study group, Waheed NK. PLoS One; 2022; 17(9):e0272260. PubMed ID: 36067162 [Abstract] [Full Text] [Related]
22. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. Smailhodzic D, Klaver CC, Klevering BJ, Boon CJ, Groenewoud JM, Kirchhof B, Daha MR, den Hollander AI, Hoyng CB. Ophthalmology; 2012 Feb; 119(2):339-46. PubMed ID: 22133792 [Abstract] [Full Text] [Related]
23. Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ. J Immunol; 2018 Apr 01; 200(7):2464-2478. PubMed ID: 29500241 [Abstract] [Full Text] [Related]
24. Functional evaluation of complement factor I variants by immunoassays and SDS-PAGE. Gerogianni A, Baas LM, Sjöström DJ, van de Kar NCAJ, Pullen M, van de Peppel SJ, Nilsson PH, van den Heuvel LP. Front Immunol; 2023 Apr 01; 14():1279612. PubMed ID: 37954579 [Abstract] [Full Text] [Related]
25. Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration. Java A, Pozzi N, Schroeder MC, Hu Z, Huan T, Seddon JM, Atkinson J. Hum Mol Genet; 2022 Oct 28; 31(21):3683-3693. PubMed ID: 35531992 [Abstract] [Full Text] [Related]
26. Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank. Tzoumas N, Kavanagh D, Cordell HJ, Lotery AJ, Patel PJ, Steel DH. Hum Mol Genet; 2022 Aug 23; 31(16):2678-2692. PubMed ID: 35285476 [Abstract] [Full Text] [Related]
27. A monoclonal antibody targeting amyloid β (Aβ) restores complement factor I bioactivity: Potential implications in age-related macular degeneration and Alzheimer's disease. Lashkari K, Teague G, Chen H, Lin YQ, Kumar S, McLaughlin MM, López FJ. PLoS One; 2018 Aug 23; 13(5):e0195751. PubMed ID: 29782502 [Abstract] [Full Text] [Related]
28. Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. Nilsson SC, Kalchishkova N, Trouw LA, Fremeaux-Bacchi V, Villoutreix BO, Blom AM. Eur J Immunol; 2010 Jan 23; 40(1):172-85. PubMed ID: 19877009 [Abstract] [Full Text] [Related]
29. Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population. Bonyadi M, Norouzi N, Babaei E, Jabbarpoor Bonyadi MH, Javadzadeh A, Yaseri M, Soheilian M. Int Ophthalmol; 2019 Mar 23; 39(3):551-556. PubMed ID: 29392637 [Abstract] [Full Text] [Related]
30. Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E. J Med Genet; 2015 Jul 23; 52(7):484-92. PubMed ID: 25986072 [Abstract] [Full Text] [Related]
31. Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration. Shoshany N, Weiner C, Safir M, Einan-Lifshitz A, Pokroy R, Kol A, Modai S, Shomron N, Pras E. Genes (Basel); 2019 Oct 18; 10(10):. PubMed ID: 31635417 [Abstract] [Full Text] [Related]
32. Complement factor I and age-related macular degeneration. Alexander P, Gibson J, Cree AJ, Ennis S, Lotery AJ. Mol Vis; 2014 Oct 18; 20():1253-7. PubMed ID: 25352734 [Abstract] [Full Text] [Related]
33. Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration. Huan T, Cheng SY, Tian B, Punzo C, Lin H, Daly M, Seddon JM. Ophthalmol Sci; 2023 Mar 18; 3(1):100206. PubMed ID: 36275200 [Abstract] [Full Text] [Related]
34. Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration. Grunin M, de Jong S, Palmer EL, Jin B, Rinker D, Moth C, Capra A, Haines JL, Bush WS, den Hollander AI, IAMDGC. medRxiv; 2023 Aug 31. PubMed ID: 37693462 [Abstract] [Full Text] [Related]
35. Altered function of factor I caused by amyloid beta: implication for pathogenesis of age-related macular degeneration from Drusen. Wang J, Ohno-Matsui K, Yoshida T, Kojima A, Shimada N, Nakahama K, Safranova O, Iwata N, Saido TC, Mochizuki M, Morita I. J Immunol; 2008 Jul 01; 181(1):712-20. PubMed ID: 18566438 [Abstract] [Full Text] [Related]
36. Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients. Mohlin FC, Nilsson SC, Levart TK, Golubovic E, Rusai K, Müller-Sacherer T, Arbeiter K, Pállinger É, Szarvas N, Csuka D, Szilágyi Á, Villoutreix BO, Prohászka Z, Blom AM. Mol Immunol; 2015 Jun 01; 65(2):367-76. PubMed ID: 25733390 [Abstract] [Full Text] [Related]
37. Geographic distribution of rare variants associated with age-related macular degeneration. Geerlings MJ, Kersten E, Groenewoud JMM, Fritsche LG, Hoyng CB, de Jong EK, den Hollander AI. Mol Vis; 2018 Jun 01; 24():75-82. PubMed ID: 29410599 [Abstract] [Full Text] [Related]
38. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S. Nat Genet; 2013 Nov 01; 45(11):1366-70. PubMed ID: 24036952 [Abstract] [Full Text] [Related]
39. Targeting factor D of the alternative complement pathway reduces geographic atrophy progression secondary to age-related macular degeneration. Yaspan BL, Williams DF, Holz FG, Regillo CD, Li Z, Dressen A, van Lookeren Campagne M, Le KN, Graham RR, Beres T, Bhangale TR, Honigberg LA, Smith A, Henry EC, Ho C, Strauss EC, MAHALO Study Investigators. Sci Transl Med; 2017 Jun 21; 9(395):. PubMed ID: 28637922 [Abstract] [Full Text] [Related]
40. Genetic Risk in Families with Age-Related Macular Degeneration. de Breuk A, Lechanteur YTE, Heesterbeek TJ, Fauser S, Klaver CCW, Hoyng CB, den Hollander AI. Ophthalmol Sci; 2021 Dec 21; 1(4):100087. PubMed ID: 36246952 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]