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324 related items for PubMed ID: 33232676

  • 1. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
    Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klämbt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F.
    Am J Hum Genet; 2020 Dec 03; 107(6):1113-1128. PubMed ID: 33232676
    [Abstract] [Full Text] [Related]

  • 2. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
    Majmundar AJ, Buerger F, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F.
    Sci Adv; 2021 Jan 03; 7(1):. PubMed ID: 33523862
    [Abstract] [Full Text] [Related]

  • 3. 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 03; 24(6):917-29. PubMed ID: 23620398
    [Abstract] [Full Text] [Related]

  • 4. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
    Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F.
    J Am Soc Nephrol; 2018 Aug 03; 29(8):2123-2138. PubMed ID: 29959197
    [Abstract] [Full Text] [Related]

  • 5. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
    Mao Y, Schneider R, van der Ven PFM, Assent M, Lohanadan K, Klämbt V, Buerger F, Kitzler TM, Deutsch K, Nakayama M, Majmundar AJ, Mann N, Hermle T, Onuchic-Whitford AC, Zhou W, Margam NN, Duncan R, Marquez J, Khokha M, Fathy HM, Kari JA, El Desoky S, Eid LA, Awad HS, Al-Saffar M, Mane S, Lifton RP, Fürst DO, Shril S, Hildebrandt F.
    Kidney Int Rep; 2021 Feb 03; 6(2):472-483. PubMed ID: 33615072
    [Abstract] [Full Text] [Related]

  • 6. Daam2 Regulates Myelin Structure and the Oligodendrocyte Actin Cytoskeleton through Rac1 and Gelsolin.
    Cristobal CD, Wang CY, Zuo Z, Smith JA, Lindeke-Myers A, Bellen HJ, Lee HK.
    J Neurosci; 2022 Mar 02; 42(9):1679-1691. PubMed ID: 35101966
    [Abstract] [Full Text] [Related]

  • 7. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
    Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Fehér K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F.
    J Clin Invest; 2017 Dec 01; 127(12):4257-4269. PubMed ID: 29058690
    [Abstract] [Full Text] [Related]

  • 8. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
    Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.
    J Clin Invest; 2013 Aug 01; 123(8):3243-53. PubMed ID: 23867502
    [Abstract] [Full Text] [Related]

  • 9. A small molecule screening to detect potential therapeutic targets in human podocytes.
    Widmeier E, Tan W, Airik M, Hildebrandt F.
    Am J Physiol Renal Physiol; 2017 Jan 01; 312(1):F157-F171. PubMed ID: 27760769
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Metastasis suppressor microRNA-335 targets the formin family of actin nucleators.
    Lynch J, Meehan MH, Crean J, Copeland J, Stallings RL, Bray IM.
    PLoS One; 2013 Feb 15; 8(11):e78428. PubMed ID: 24223803
    [Abstract] [Full Text] [Related]

  • 12. Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?
    Pragna Lakshmi T, Saini N, Shah MA, Gowrishankar S, Dalal A, Ranganath P.
    Clin Genet; 2024 Oct 15; 106(4):494-499. PubMed ID: 38860410
    [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 15; 90(2):363-372. PubMed ID: 27350175
    [Abstract] [Full Text] [Related]

  • 14. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
    Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, Rehm HL, MacArthur DG, Lifton RP, Walz G, Römer W, Bergmann C, Hildebrandt F, Hermle T.
    J Am Soc Nephrol; 2019 Dec 15; 30(12):2338-2353. PubMed ID: 31732614
    [Abstract] [Full Text] [Related]

  • 15. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
    Dorval G, Kuzmuk V, Gribouval O, Welsh GI, Bierzynska A, Schmitt A, Miserey-Lenkei S, Koziell A, Haq S, Benmerah A, Mollet G, Boyer O, Saleem MA, Antignac C.
    Am J Hum Genet; 2019 Feb 07; 104(2):348-355. PubMed ID: 30661770
    [Abstract] [Full Text] [Related]

  • 16. Synaptopodin protects against proteinuria by disrupting Cdc42:IRSp53:Mena signaling complexes in kidney podocytes.
    Yanagida-Asanuma E, Asanuma K, Kim K, Donnelly M, Young Choi H, Hyung Chang J, Suetsugu S, Tomino Y, Takenawa T, Faul C, Mundel P.
    Am J Pathol; 2007 Aug 07; 171(2):415-27. PubMed ID: 17569780
    [Abstract] [Full Text] [Related]

  • 17. Disease-causing mutations of RhoGDIα induce Rac1 hyperactivation in podocytes.
    Auguste D, Maier M, Baldwin C, Aoudjit L, Robins R, Gupta IR, Takano T.
    Small GTPases; 2016 Apr 02; 7(2):107-21. PubMed ID: 26726844
    [Abstract] [Full Text] [Related]

  • 18. The scaffold-protein IQGAP1 enhances and spatially restricts the actin-nucleating activity of Diaphanous-related formin 1 (DIAPH1).
    Chen A, Arora PD, Lai CC, Copeland JW, Moraes TF, McCulloch CA, Lavoie BD, Wilde A.
    J Biol Chem; 2020 Mar 06; 295(10):3134-3147. PubMed ID: 32005666
    [Abstract] [Full Text] [Related]

  • 19. Increased dishevelled associated activator of morphogenesis 2, a new podocyte-associated protein, in diabetic nephropathy.
    Qi C, Alsomali F, Zhong J, Harris RC, Kon V, Yang H, Fogo AB.
    Nephrol Dial Transplant; 2021 May 27; 36(6):1006-1016. PubMed ID: 33544843
    [Abstract] [Full Text] [Related]

  • 20. Placental defects lead to embryonic lethality in mice lacking the Formin and PCP proteins Daam1 and Daam2.
    Nakaya MA, Gudmundsson KO, Komiya Y, Keller JR, Habas R, Yamaguchi TP, Ajima R.
    PLoS One; 2020 May 27; 15(4):e0232025. PubMed ID: 32353019
    [Abstract] [Full Text] [Related]

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