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Journal Abstract Search

254 related items for PubMed ID: 29959197

  • 1. 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; 29(8):2123-2138. PubMed ID: 29959197
    [Abstract] [Full Text] [Related]

  • 2. 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; 30(12):2338-2353. PubMed ID: 31732614
    [Abstract] [Full Text] [Related]

  • 3. 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; 125(6):2375-84. PubMed ID: 25961457
    [Abstract] [Full Text] [Related]

  • 4. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
    Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D.
    Kidney Int; 2019 Oct; 96(4):883-889. PubMed ID: 31472902
    [Abstract] [Full Text] [Related]

  • 5. Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila.
    Milosavljevic J, Lempicki C, Lang K, Heinkele H, Kampf LL, Leroy C, Chen M, Gerstner L, Spitz D, Wang M, Knob AU, Kayser S, Helmstädter M, Walz G, Pollak MR, Hermle T.
    J Am Soc Nephrol; 2022 Dec; 33(12):2174-2193. PubMed ID: 36137753
    [Abstract] [Full Text] [Related]

  • 6. Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
    Bierzynska A, Bull K, Miellet S, Dean P, Neal C, Colby E, McCarthy HJ, Hegde S, Sinha MD, Bugarin Diz C, Stirrups K, Megy K, Mapeta R, Penkett C, Marsh S, Forrester N, Afzal M, Stark H, BioResource N, Williams M, Welsh GI, Koziell AB, Hartley PS, Saleem MA.
    Pediatr Nephrol; 2022 Nov; 37(11):2643-2656. PubMed ID: 35211795
    [Abstract] [Full Text] [Related]

  • 7. Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome.
    Zhao F, Zhu JY, Richman A, Fu Y, Huang W, Chen N, Pan X, Yi C, Ding X, Wang S, Wang P, Nie X, Huang J, Yang Y, Yu Z, Han Z.
    J Am Soc Nephrol; 2019 May; 30(5):840-853. PubMed ID: 30910934
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.
    Fu Y, Zhu JY, Richman A, Zhao Z, Zhang F, Ray PE, Han Z.
    Hum Mol Genet; 2017 Feb 15; 26(4):768-780. PubMed ID: 28164240
    [Abstract] [Full Text] [Related]

  • 10. MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
    Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA, NephroS, UK study of Nephrotic Syndrome.
    J Am Soc Nephrol; 2017 May 15; 28(5):1614-1621. PubMed ID: 27932480
    [Abstract] [Full Text] [Related]

  • 11. Nephrin Signaling Results in Integrin β1 Activation.
    Dlugos CP, Picciotto C, Lepa C, Krakow M, Stöber A, Eddy ML, Weide T, Jeibmann A, P Krahn M, Van Marck V, Klingauf J, Ricker A, Wedlich-Söldner R, Pavenstädt H, Klämbt C, George B.
    J Am Soc Nephrol; 2019 Jun 15; 30(6):1006-1019. PubMed ID: 31097607
    [Abstract] [Full Text] [Related]

  • 12. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
    Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA.
    Kidney Int; 2017 Apr 15; 91(4):937-947. PubMed ID: 28117080
    [Abstract] [Full Text] [Related]

  • 13. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
    Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y.
    Pediatr Nephrol; 2017 May 15; 32(5):801-809. PubMed ID: 27942854
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 07; 123(8):3243-53. PubMed ID: 23867502
    [Abstract] [Full Text] [Related]

  • 16. 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 07; 33(10):1741-1750. PubMed ID: 29982877
    [Abstract] [Full Text] [Related]

  • 17. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
    Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.
    J Clin Invest; 2017 Mar 01; 127(3):912-928. PubMed ID: 28165339
    [Abstract] [Full Text] [Related]

  • 18. Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.
    Hermle T, Braun DA, Helmstädter M, Huber TB, Hildebrandt F.
    J Am Soc Nephrol; 2017 May 01; 28(5):1521-1533. PubMed ID: 27932481
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

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