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Journal Abstract Search

473 related items for PubMed ID: 20023659

  • 1. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
    Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.
    Nat Genet; 2010 Jan; 42(1):72-6. PubMed ID: 20023659
    [Abstract] [Full Text] [Related]

  • 2. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
    Gbadegesin RA, Lavin PJ, Hall G, Bartkowiak B, Homstad A, Jiang R, Wu G, Byrd A, Lynn K, Wolfish N, Ottati C, Stevens P, Howell D, Conlon P, Winn MP.
    Kidney Int; 2012 Jan; 81(1):94-9. PubMed ID: 21866090
    [Abstract] [Full Text] [Related]

  • 3. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
    Boyer O, Benoit G, Gribouval O, Nevo F, Tête MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld JP, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler MC, Broutin I, Mollet G, Antignac C.
    J Am Soc Nephrol; 2011 Feb; 22(2):239-45. PubMed ID: 21258034
    [Abstract] [Full Text] [Related]

  • 4. Variable renal phenotype in a family with an INF2 mutation.
    Lee HK, Han KH, Jung YH, Kang HG, Moon KC, Ha IS, Choi Y, Cheong HI.
    Pediatr Nephrol; 2011 Jan; 26(1):73-6. PubMed ID: 20803156
    [Abstract] [Full Text] [Related]

  • 5. Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.
    Xie J, Hao X, Azeloglu EU, Ren H, Wang Z, Ma J, Liu J, Ma X, Wang W, Pan X, Zhang W, Zhong F, Li Y, Meng G, Kiryluk K, He JC, Gharavi AG, Chen N.
    Kidney Int; 2015 Sep; 88(3):593-604. PubMed ID: 26039629
    [Abstract] [Full Text] [Related]

  • 6. 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; 83(2):316-22. PubMed ID: 23014460
    [Abstract] [Full Text] [Related]

  • 7. Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
    Caridi G, Lugani F, Dagnino M, Gigante M, Iolascon A, Falco M, Graziano C, Benetti E, Dugo M, Del Prete D, Granata A, Borracelli D, Moggia E, Quaglia M, Rinaldi R, Gesualdo L, Ghiggeri GM.
    Nephrol Dial Transplant; 2014 Sep; 29 Suppl 4():iv80-6. PubMed ID: 25165188
    [Abstract] [Full Text] [Related]

  • 8. Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.
    Büscher AK, Celebi N, Hoyer PF, Klein HG, Weber S, Hoefele J.
    Pediatr Nephrol; 2018 Mar; 33(3):433-437. PubMed ID: 29038887
    [Abstract] [Full Text] [Related]

  • 9. Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.
    Subramanian B, Sun H, Yan P, Charoonratana VT, Higgs HN, Wang F, Lai KV, Valenzuela DM, Brown EJ, Schlöndorff JS, Pollak MR.
    Kidney Int; 2016 Aug; 90(2):363-372. PubMed ID: 27350175
    [Abstract] [Full Text] [Related]

  • 10. Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.
    Rood IM, Bongers EM, Lugtenberg D, Klein IH, Steenbergen EJ, Wetzels JF, Deegens JK.
    Neth J Med; 2016 Feb; 74(2):82-5. PubMed ID: 26951353
    [Abstract] [Full Text] [Related]

  • 11. Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
    Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP.
    J Am Soc Nephrol; 2014 Sep; 25(9):1991-2002. PubMed ID: 24676636
    [Abstract] [Full Text] [Related]

  • 12. Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2).
    Sun H, Schlondorff JS, Brown EJ, Higgs HN, Pollak MR.
    Proc Natl Acad Sci U S A; 2011 Feb 15; 108(7):2933-8. PubMed ID: 21278336
    [Abstract] [Full Text] [Related]

  • 13. FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
    Subramanian B, Chun J, Perez-Gill C, Yan P, Stillman IE, Higgs HN, Alper SL, Schlöndorff JS, Pollak MR.
    J Am Soc Nephrol; 2020 Feb 15; 31(2):374-391. PubMed ID: 31924668
    [Abstract] [Full Text] [Related]

  • 14. Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.
    Sun H, Schlondorff J, Higgs HN, Pollak MR.
    J Am Soc Nephrol; 2013 May 15; 24(6):917-29. PubMed ID: 23620398
    [Abstract] [Full Text] [Related]

  • 15. Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2.
    Rollason R, Wherlock M, Heath JA, Heesom KJ, Saleem MA, Welsh GI.
    Biosci Rep; 2016 Jan 13; 36(1):e00302. PubMed ID: 26764407
    [Abstract] [Full Text] [Related]

  • 16. A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Park HJ, Kim HJ, Hong YB, Nam SH, Chung KW, Choi BO.
    J Peripher Nerv Syst; 2014 Jun 13; 19(2):175-9. PubMed ID: 24750328
    [Abstract] [Full Text] [Related]

  • 17. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
    Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.
    N Engl J Med; 2011 Dec 22; 365(25):2377-88. PubMed ID: 22187985
    [Abstract] [Full Text] [Related]

  • 18. Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.
    Safarikova M, Stekrova J, Honsova E, Horinova V, Tesar V, Reiterova J.
    BMC Med Genet; 2018 Aug 20; 19(1):147. PubMed ID: 30126379
    [Abstract] [Full Text] [Related]

  • 19. 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 20; 83(1):153-9. PubMed ID: 22971997
    [Abstract] [Full Text] [Related]

  • 20. Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
    Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S.
    Clin Nephrol; 2012 Jul 20; 78(1):47-53. PubMed ID: 22732337
    [Abstract] [Full Text] [Related]

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