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Journal Abstract Search

221 related items for PubMed ID: 16251236

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis.
    Komatsuda A, Wakui H, Maki N, Kigawa A, Goto H, Ohtani H, Hamai K, Oyama Y, Makoto H, Sawada K, Imai H.
    Ren Fail; 2003 Jan; 25(1):87-93. PubMed ID: 12617336
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis.
    Dai S, Wang Z, Pan X, Wang W, Chen X, Ren H, Hao C, Han B, Chen N.
    Nephrol Dial Transplant; 2010 Mar; 25(3):824-35. PubMed ID: 19666657
    [Abstract] [Full Text] [Related]

  • 5. 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 Mar; 181():91-100. PubMed ID: 23689571
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
    Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR.
    Kidney Int; 2013 Feb 15; 83(2):316-22. PubMed ID: 23014460
    [Abstract] [Full Text] [Related]

  • 10. Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein.
    Yao J, Le TC, Kos CH, Henderson JM, Allen PG, Denker BM, Pollak MR.
    PLoS Biol; 2004 Jun 15; 2(6):e167. PubMed ID: 15208719
    [Abstract] [Full Text] [Related]

  • 11. 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 Jun 15; 111(2):c87-94. PubMed ID: 19142020
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 Apr 06; 11(12):e0167467. PubMed ID: 27977723
    [Abstract] [Full Text] [Related]

  • 15. 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 Apr 06; 59(3):110-5. PubMed ID: 23890478
    [Abstract] [Full Text] [Related]

  • 16. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.
    Sanchez-Ares M, Garcia-Vidal M, Antucho EE, Julio P, Eduardo VM, Lens XM, Garcia-Gonzalez MA.
    Kidney Int; 2013 Jan 06; 83(1):153-9. PubMed ID: 22971997
    [Abstract] [Full Text] [Related]

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  • 18. Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
    Choi HJ, Lee BH, Cho HY, Moon KC, Ha IS, Nagata M, Choi Y, Cheong HI.
    Am J Kidney Dis; 2008 May 06; 51(5):834-8. PubMed ID: 18436095
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  • 20. Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
    Löwik M, Levtchenko E, Westra D, Groenen P, Steenbergen E, Weening J, Lilien M, Monnens L, van den Heuvel L.
    Nephrol Dial Transplant; 2008 Oct 06; 23(10):3146-51. PubMed ID: 18443213
    [Abstract] [Full Text] [Related]

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