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Journal Abstract Search

231 related items for PubMed ID: 32553244

  • 1. Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
    Perkins SJ.
    Adv Chronic Kidney Dis; 2020 Mar; 27(2):120-127.e4. PubMed ID: 32553244
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. 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
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  • 4. 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 Oct 01; 13():866330. PubMed ID: 35619721
    [Abstract] [Full Text] [Related]

  • 5. Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
    Bu F, Zhang Y, Wang K, Borsa NG, Jones MB, Taylor AO, Takanami E, Meyer NC, Frees K, Thomas CP, Nester C, Smith RJH.
    J Am Soc Nephrol; 2018 Dec 01; 29(12):2809-2819. PubMed ID: 30377230
    [Abstract] [Full Text] [Related]

  • 6. Complete functional characterization of disease-associated genetic variants in the complement factor H gene.
    Merinero HM, García SP, García-Fernández J, Arjona E, Tortajada A, Rodríguez de Córdoba S.
    Kidney Int; 2018 Feb 01; 93(2):470-481. PubMed ID: 28941939
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  • 8. Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
    Valoti E, Alberti M, Iatropoulos P, Piras R, Mele C, Breno M, Cremaschi A, Bresin E, Donadelli R, Alizzi S, Amoroso A, Benigni A, Remuzzi G, Noris M.
    Front Immunol; 2019 Feb 01; 10():853. PubMed ID: 31118930
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  • 10. Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.
    Haydock L, Garneau AP, Tremblay L, Yen HY, Gao H, Harrisson R, Isenring P.
    J Mol Med (Berl); 2022 Feb 01; 100(2):269-284. PubMed ID: 34714369
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  • 14. Partial Complement Factor H Deficiency Associates with C3 Glomerulopathy and Thrombotic Microangiopathy.
    Vernon KA, Ruseva MM, Cook HT, Botto M, Malik TH, Pickering MC.
    J Am Soc Nephrol; 2016 May 01; 27(5):1334-42. PubMed ID: 26374608
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  • 15. Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
    Szarvas N, Szilágyi Á, Csuka D, Takács B, Rusai K, Müller T, Arbeiter K, Réti M, Haris Á, Wagner L, Török S, Kelen K, Szabó AJ, Reusz GS, Morgan BP, Prohászka Z.
    Mol Immunol; 2016 Mar 01; 71():10-22. PubMed ID: 26826462
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  • 16. A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.
    Ding Y, Zhao W, Zhang T, Qiang H, Lu J, Su X, Wen S, Xu F, Zhang M, Zhang H, Zeng C, Liu Z, Chen H.
    Sci Rep; 2017 Jul 20; 7(1):6004. PubMed ID: 28729648
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  • 17. A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
    Pollack S, Eisenstein I, Mory A, Paperna T, Ofir A, Baris-Feldman H, Weiss K, Veszeli N, Csuka D, Shemer R, Glaser F, Prohászka Z, Magen D.
    Front Immunol; 2021 Jul 20; 12():608604. PubMed ID: 34248927
    [Abstract] [Full Text] [Related]

  • 18. Overactivity of Alternative Pathway Convertases in Patients With Complement-Mediated Renal Diseases.
    Michels MAHM, van de Kar NCAJ, Okrój M, Blom AM, van Kraaij SAW, Volokhina EB, van den Heuvel LPWJ.
    Front Immunol; 2018 Jul 20; 9():612. PubMed ID: 29670616
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  • 19. Overlapping Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy with Mutation in CFI in a Japanese Patient: A Case Report.
    Osawa K, Yamamoto S, Yamano Y, Kita A, Okamoto K, Kato N, Tatematsu Y, Kojima F, Ohya M, Hara S, Murata SI, Inoue N, Maruyama S, Araki SI.
    Intern Med; 2024 Jun 15; 63(12):1777-1782. PubMed ID: 37926536
    [Abstract] [Full Text] [Related]

  • 20. Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
    Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ, Conference Participants.
    Kidney Int; 2017 Mar 15; 91(3):539-551. PubMed ID: 27989322
    [Abstract] [Full Text] [Related]

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