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Journal Abstract Search


120 related items for PubMed ID: 23890478

  • 1. Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method.
    Safaříková M, Reiterová J, Safránková H, Stekrová J, Zidková A, Obeidová L, Kohoutová M, Tesař V.
    Folia Biol (Praha); 2013; 59(3):110-5. PubMed ID: 23890478
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  • 4. Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy.
    Meng L, Cao S, Lin N, Zhao J, Cai X, Liang Y, Huang K, Lin M, Chen X, Li D, Wang J, Yang L, Wei A, Li G, Lu Q, Guo Y, Wei Q, Tan J, Huang M, Huang Y, Wang J, Liu Y.
    Biomed Res Int; 2019; 2019():5949485. PubMed ID: 31930129
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  • 6. Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
    Zhang Q, Ma J, Xie J, Wang Z, Zhu B, Hao X, Yang L, Ren H, Chen N.
    Contrib Nephrol; 2013; 181():91-100. PubMed ID: 23689571
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  • 7. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
    Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodríguez-Pérez JC, Allen PG, Beggs AH, Pollak MR.
    Nat Genet; 2000 Mar; 24(3):251-6. PubMed ID: 10700177
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  • 8. Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.
    Aucella F, De Bonis P, Gatta G, Muscarella LA, Vigilante M, di Giorgio G, D'Errico M, Zelante L, Stallone C, Bisceglia L.
    Nephron Clin Pract; 2005 Mar; 99(2):c31-6. PubMed ID: 15627790
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  • 9. ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
    Dai S, Wang Z, Pan X, Chen X, Wang W, Ren H, Feng Q, He JC, Han B, Chen N.
    Nephron Clin Pract; 2009 Mar; 111(2):c87-94. PubMed ID: 19142020
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  • 10. Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.
    Weins A, Kenlan P, Herbert S, Le TC, Villegas I, Kaplan BS, Appel GB, Pollak MR.
    J Am Soc Nephrol; 2005 Dec; 16(12):3694-701. PubMed ID: 16251236
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  • 11. Focal and segmental glomerulosclerosis in mice with podocyte-specific expression of mutant alpha-actinin-4.
    Michaud JL, Lemieux LI, Dubé M, Vanderhyden BC, Robertson SJ, Kennedy CR.
    J Am Soc Nephrol; 2003 May; 14(5):1200-11. PubMed ID: 12707390
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  • 12. Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors.
    Khurana S, Chakraborty S, Lam M, Liu Y, Su YT, Zhao X, Saleem MA, Mathieson PW, Bruggeman LA, Kao HY.
    J Biol Chem; 2012 Apr 06; 287(15):12027-35. PubMed ID: 22351778
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  • 13. Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
    Reiterová J, Safránková H, Obeidová L, Stěkrová J, Maixnerová D, Merta M, Tesař V.
    Folia Biol (Praha); 2012 Apr 06; 58(2):64-8. PubMed ID: 22578956
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  • 15. Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
    Bartram MP, Habbig S, Pahmeyer C, Höhne M, Weber LT, Thiele H, Altmüller J, Kottoor N, Wenzel A, Krueger M, Schermer B, Benzing T, Rinschen MM, Beck BB.
    Hum Mol Genet; 2016 Mar 15; 25(6):1152-64. PubMed ID: 26740551
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  • 16. Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations.
    Shao H, Wingert B, Weins A, Pollak MR, Camacho C, Wells A.
    Sci Rep; 2019 Oct 29; 9(1):15517. PubMed ID: 31664084
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  • 17. Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.
    Feng D, Steinke JM, Krishnan R, Birrane G, Pollak MR.
    PLoS One; 2016 Oct 29; 11(12):e0167467. PubMed ID: 27977723
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  • 18. Increasing incidence of focal segmental glomerulosclerosis and an examination of demographic patterns.
    Dragovic D, Rosenstock JL, Wahl SJ, Panagopoulos G, DeVita MV, Michelis MF.
    Clin Nephrol; 2005 Jan 29; 63(1):1-7. PubMed ID: 15678691
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  • 19. Mice with podocyte-specific overexpression of wild type alpha-actinin-4 are healthy controls for K256E-alpha-actinin-4 mutant transgenic mice.
    Michaud JL, Stitt-Cavanaugh E, Endlich N, Endlich K, De Repentigny Y, Kothary R, Kennedy CR.
    Transgenic Res; 2010 Apr 29; 19(2):285-9. PubMed ID: 19585264
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  • 20. Immunoexpression of podocyte-associated proteins in acquired human glomerulopathies with nephrotic syndrome.
    Wagrowska-Danilewicz M, Stasikowska O, Danilewicz M.
    Pol J Pathol; 2006 Apr 29; 57(1):17-21. PubMed ID: 16739878
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