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Journal Abstract Search

192 related items for PubMed ID: 32444357

  • 1. 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; 31(6):1296-1313. PubMed ID: 32444357
    [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
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  • 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. 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]

  • 5. Altered Endoplasmic Reticulum Integrity and Organelle Interactions in Living Cells Expressing INF2 Variants.
    Tran QTH, Kondo N, Ueda H, Matsuo Y, Tsukaguchi H.
    Int J Mol Sci; 2024 Sep 10; 25(18):. PubMed ID: 39337270
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  • 8. The formin INF2 in disease: progress from 10 years of research.
    Labat-de-Hoz L, Alonso MA.
    Cell Mol Life Sci; 2020 Nov 10; 77(22):4581-4600. PubMed ID: 32451589
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  • 9. 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
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  • 10. 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
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  • 11. A complex containing lysine-acetylated actin inhibits the formin INF2.
    A M, Fung TS, Kettenbach AN, Chakrabarti R, Higgs HN.
    Nat Cell Biol; 2019 May 25; 21(5):592-602. PubMed ID: 30962575
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  • 12. 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
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  • 14. Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Lei Q, Zhou W, Huang L, Zhang Y, Xu X, Guo X.
    Stem Cell Res; 2024 Apr 25; 76():103357. PubMed ID: 38412658
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  • 15. 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 25; 20(1):52-9. PubMed ID: 25676889
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  • 16. 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 25; 28(2):339-43. PubMed ID: 22961558
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  • 17. Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
    Sun H, Perez-Gill C, Schlöndorff JS, Subramanian B, Pollak MR.
    J Am Soc Nephrol; 2021 Feb 25; 32(2):307-322. PubMed ID: 33443052
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  • 18. 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
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  • 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 26; 83(1):153-9. PubMed ID: 22971997
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  • 20. 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
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