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Journal Abstract Search

184 related items for PubMed ID: 29058690

  • 1. 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]

  • 2. 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]

  • 3. PLCE1 regulates the migration, proliferation, and differentiation of podocytes.
    Yu S, Choi WI, Choi YJ, Kim HY, Hildebrandt F, Gee HY.
    Exp Mol Med; 2020 Apr 03; 52(4):594-603. PubMed ID: 32238860
    [Abstract] [Full Text] [Related]

  • 4. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
    Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F.
    J Clin Invest; 2015 Jun 03; 125(6):2375-84. PubMed ID: 25961457
    [Abstract] [Full Text] [Related]

  • 5. Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.
    Chaib H, Hoskins BE, Ashraf S, Goyal M, Wiggins RC, Hildebrandt F.
    Am J Physiol Renal Physiol; 2008 Jan 03; 294(1):F93-9. PubMed ID: 17942568
    [Abstract] [Full Text] [Related]

  • 6. Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
    Wang Y, Dang X, He Q, Zhen Y, He X, Yi Z, Zhu K.
    Gene; 2017 Aug 20; 625():15-20. PubMed ID: 28476686
    [Abstract] [Full Text] [Related]

  • 7. 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 20; 29(8):2123-2138. PubMed ID: 29959197
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome.
    Kitzler TM, Kachurina N, Bitzan MM, Torban E, Goodyer PR.
    Pediatr Nephrol; 2018 Oct 01; 33(10):1741-1750. PubMed ID: 29982877
    [Abstract] [Full Text] [Related]

  • 10. NPHS3: new clues for understanding idiopathic nephrotic syndrome.
    Hinkes BG.
    Pediatr Nephrol; 2008 Jun 01; 23(6):847-50. PubMed ID: 18270750
    [Abstract] [Full Text] [Related]

  • 11. WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
    Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P.
    Mol Cell Biochem; 2017 Feb 01; 426(1-2):177-181. PubMed ID: 27885584
    [Abstract] [Full Text] [Related]

  • 12. Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
    Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C.
    J Med Genet; 2010 Jul 01; 47(7):445-52. PubMed ID: 20591883
    [Abstract] [Full Text] [Related]

  • 13. Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome.
    Hashmi JA, Safar RA, Afzal S, Albalawi AM, Abdu-Samad F, Iqbal Z, Basit S.
    Mol Med Rep; 2018 Dec 01; 18(6):5095-5100. PubMed ID: 30280192
    [Abstract] [Full Text] [Related]

  • 14. Familial nephrotic syndrome: PLCE1 enters the fray.
    Jefferson JA, Shankland SJ.
    Nephrol Dial Transplant; 2007 Jul 01; 22(7):1849-52. PubMed ID: 17449496
    [No Abstract] [Full Text] [Related]

  • 15. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
    Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.
    J Clin Invest; 2013 Dec 01; 123(12):5179-89. PubMed ID: 24270420
    [Abstract] [Full Text] [Related]

  • 16. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
    Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F.
    Nat Genet; 2006 Dec 01; 38(12):1397-405. PubMed ID: 17086182
    [Abstract] [Full Text] [Related]

  • 17. Nephrotic syndrome: AVIL mutations reduce podocyte migration rate in SRNS.
    Heintze JM.
    Nat Rev Nephrol; 2018 Jan 01; 14(1):2. PubMed ID: 29129927
    [No Abstract] [Full Text] [Related]

  • 18. 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 01; 171(2):415-27. PubMed ID: 17569780
    [Abstract] [Full Text] [Related]

  • 19. Genetic testing in steroid-resistant nephrotic syndrome: when and how?
    Lovric S, Ashraf S, Tan W, Hildebrandt F.
    Nephrol Dial Transplant; 2016 Nov 01; 31(11):1802-1813. PubMed ID: 26507970
    [Abstract] [Full Text] [Related]

  • 20. Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism.
    Lin L, Ye Y, Fu H, Gu W, Zhao M, Sun J, Cao Z, Huang G, Xie Y, Liu F, Li L, Li Q, Mao J, Hu L.
    Cell Commun Signal; 2023 Nov 13; 21(1):324. PubMed ID: 37957688
    [Abstract] [Full Text] [Related]

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