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Journal Abstract Search

200 related items for PubMed ID: 37491439

  • 1. Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.
    Ueda H, Tran QTH, Tran LNT, Higasa K, Ikeda Y, Kondo N, Hashiyada M, Sato C, Sato Y, Ashida A, Nishio S, Iwata Y, Iida H, Matsuoka D, Hidaka Y, Fukui K, Itami S, Kawashita N, Sugimoto K, Nozu K, Hattori M, Tsukaguchi H.
    Sci Rep; 2023 Jul 25; 13(1):12003. PubMed ID: 37491439
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Park JH, Kwon HM, Nam DE, Kim HJ, Nam SH, Kim SB, Choi BO, Chung KW.
    J Peripher Nerv Syst; 2023 Mar 22; 28(1):108-118. PubMed ID: 36637069
    [Abstract] [Full Text] [Related]

  • 4. 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 22; 31(2):374-391. PubMed ID: 31924668
    [Abstract] [Full Text] [Related]

  • 5. Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
    Rodriguez PQ, Lohkamp B, Celsi G, Mache CJ, Auer-Grumbach M, Wernerson A, Hamajima N, Tryggvason K, Patrakka J.
    Pediatr Nephrol; 2013 Feb 22; 28(2):339-43. PubMed ID: 22961558
    [Abstract] [Full Text] [Related]

  • 6. A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
    Bayraktar S, Nehrig J, Menis E, Karli K, Janning A, Struk T, Halbritter J, Michgehl U, Krahn MP, Schuberth CE, Pavenstädt H, Wedlich-Söldner R.
    J Am Soc Nephrol; 2020 Jun 22; 31(6):1296-1313. PubMed ID: 32444357
    [Abstract] [Full Text] [Related]

  • 7. 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 22; 19(2):175-9. PubMed ID: 24750328
    [Abstract] [Full Text] [Related]

  • 8. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
    Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J.
    J Peripher Nerv Syst; 2015 Mar 22; 20(1):52-9. PubMed ID: 25676889
    [Abstract] [Full Text] [Related]

  • 9. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.
    Mademan I, Deconinck T, Dinopoulos A, Voit T, Schara U, Devriendt K, Meijers B, Lerut E, De Jonghe P, Baets J.
    Neurology; 2013 Nov 26; 81(22):1953-8. PubMed ID: 24174593
    [Abstract] [Full Text] [Related]

  • 10. A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.
    Echaniz-Laguna A, Latour P.
    J Peripher Nerv Syst; 2019 Mar 26; 24(1):120-124. PubMed ID: 30680856
    [Abstract] [Full Text] [Related]

  • 11. INF2 formin variants linked to human inherited kidney disease reprogram the transcriptome, causing mitotic chaos and cell death.
    Labat-de-Hoz L, Fernández-Martín L, Correas I, Alonso MA.
    Cell Mol Life Sci; 2024 Jun 25; 81(1):279. PubMed ID: 38916773
    [Abstract] [Full Text] [Related]

  • 12. 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 25; 88(3):593-604. PubMed ID: 26039629
    [Abstract] [Full Text] [Related]

  • 13. 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 25; 90(2):363-372. PubMed ID: 27350175
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 29 Suppl 4():iv80-6. PubMed ID: 25165188
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 83(2):316-22. PubMed ID: 23014460
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. New Paradigm for Cytoskeletal Organization in Podocytes: Proteolytic Fragments of INF2 Formin Function Independently of INF2 Actin Regulatory Activity.
    Krendel M, Pruyne D.
    J Am Soc Nephrol; 2020 Feb 20; 31(2):235-236. PubMed ID: 31924669
    [No Abstract] [Full Text] [Related]

  • 18. Missense Mutant Gain-of-Function Causes Inverted Formin 2 (INF2)-Related Focal Segmental Glomerulosclerosis (FSGS).
    Subramanian B, Williams S, Karp S, Hennino MF, Jacas S, Lee M, Riella CV, Alper SL, Higgs HN, Pollak MR.
    bioRxiv; 2024 Jun 10. PubMed ID: 38915495
    [Abstract] [Full Text] [Related]

  • 19. INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients.
    Jin S, Wang W, Wang R, Lv H, Zhang W, Wang Z, Jiao J, Yuan Y.
    Clin Neuropathol; 2015 Jun 10; 34(5):275-81. PubMed ID: 25943269
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 24(6):917-29. PubMed ID: 23620398
    [Abstract] [Full Text] [Related]

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