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Journal Abstract Search

180 related items for PubMed ID: 30962575

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  • 3. 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; 28(2):339-43. PubMed ID: 22961558
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  • 5. 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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  • 8. 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 22; 24(6):917-29. PubMed ID: 23620398
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  • 9. 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 May 22; 34(5):275-81. PubMed ID: 25943269
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  • 13. 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
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  • 14. 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
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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 22; 20(1):52-9. PubMed ID: 25676889
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  • 17. The formin INF2 in disease: progress from 10 years of research.
    Labat-de-Hoz L, Alonso MA.
    Cell Mol Life Sci; 2020 Nov 22; 77(22):4581-4600. PubMed ID: 32451589
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  • 18. The disease-associated formin INF2/EXC-6 organizes lumen and cell outgrowth during tubulogenesis by regulating F-actin and microtubule cytoskeletons.
    Shaye DD, Greenwald I.
    Dev Cell; 2015 Mar 23; 32(6):743-55. PubMed ID: 25771894
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  • 19. 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 23; 24(1):120-124. PubMed ID: 30680856
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  • 20. 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 23; 22(2):239-45. PubMed ID: 21258034
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