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Journal Abstract Search

182 related items for PubMed ID: 29058690

  • 21. [Recent advances in the research on mechanisms underlying podocyte-specific gene mutation-related steroid-resistant nephrotic syndrome].
    Zhang LW, Wang LP.
    Zhongguo Dang Dai Er Ke Za Zhi; 2014 Jan; 16(1):99- following 102. PubMed ID: 24461191
    [Abstract] [Full Text] [Related]

  • 22.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 23. Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
    Siji A, Karthik KN, Pardeshi VC, Hari PS, Vasudevan A.
    BMC Med Genet; 2018 Nov 20; 19(1):200. PubMed ID: 30458709
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
    Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.
    J Clin Invest; 2018 Oct 01; 128(10):4313-4328. PubMed ID: 30179222
    [Abstract] [Full Text] [Related]

  • 26. A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma.
    Xie Z, Janczyk PŁ, Zhang Y, Liu A, Shi X, Singh S, Facemire L, Kubow K, Li Z, Jia Y, Schafer D, Mandell JW, Abounader R, Li H.
    Nat Commun; 2020 Jul 10; 11(1):3457. PubMed ID: 32651364
    [Abstract] [Full Text] [Related]

  • 27. The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma.
    Cornelison R, Marrah L, Fierti A, Piczak C, Glowczyk M, Tajammal A, Lynch S, Li H.
    Int J Mol Sci; 2023 Sep 17; 24(18):. PubMed ID: 37762498
    [Abstract] [Full Text] [Related]

  • 28. FAT1 mutations cause a glomerulotubular nephropathy.
    Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F.
    Nat Commun; 2016 Feb 24; 7():10822. PubMed ID: 26905694
    [Abstract] [Full Text] [Related]

  • 29. The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?
    Thi Kim Lien N, Van Dem P, Thu Huong N, Minh Dien T, Thi Thu Thuy T, Van Tung N, Huy Hoang N, Thi Quynh Huong N.
    Medicina (Kaunas); 2019 Apr 12; 55(4):. PubMed ID: 31013750
    [Abstract] [Full Text] [Related]

  • 30. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
    Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.
    Nat Genet; 2017 Oct 12; 49(10):1529-1538. PubMed ID: 28805828
    [Abstract] [Full Text] [Related]

  • 31. Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.
    Thomas MM, Abdel-Hamid MS, Mahfouz NN, Ghobrial EE.
    J Formos Med Assoc; 2018 Jan 12; 117(1):48-53. PubMed ID: 28385484
    [Abstract] [Full Text] [Related]

  • 32. Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
    Bullich G, Trujillano D, Santín S, Ossowski S, Mendizábal S, Fraga G, Madrid Á, Ariceta G, Ballarín J, Torra R, Estivill X, Ars E.
    Eur J Hum Genet; 2015 Sep 12; 23(9):1192-9. PubMed ID: 25407002
    [Abstract] [Full Text] [Related]

  • 33. 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 12; 32(5):801-809. PubMed ID: 27942854
    [Abstract] [Full Text] [Related]

  • 34. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
    Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N.
    Am J Hum Genet; 2015 Oct 01; 97(4):555-66. PubMed ID: 26411495
    [Abstract] [Full Text] [Related]

  • 35. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
    Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S, German Pediatric Nephrology Association (GPN).
    Clin J Am Soc Nephrol; 2016 Feb 05; 11(2):245-53. PubMed ID: 26668027
    [Abstract] [Full Text] [Related]

  • 36. Initiation of lamellipodia and ruffles involves cooperation between mDia1 and the Arp2/3 complex.
    Isogai T, van der Kammen R, Leyton-Puig D, Kedziora KM, Jalink K, Innocenti M.
    J Cell Sci; 2015 Oct 15; 128(20):3796-810. PubMed ID: 26349808
    [Abstract] [Full Text] [Related]

  • 37. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
    Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, Shril S, Gee HY, Baum M, Daouk G, Ferguson MA, Rodig N, Somers MJG, Stein DR, Vivante A, Warejko JK, Widmeier E, Hildebrandt F.
    Pediatr Nephrol; 2018 Feb 15; 33(2):305-314. PubMed ID: 28921387
    [Abstract] [Full Text] [Related]

  • 38. Alteration of histone H3K4 methylation in glomerular podocytes associated with proteinuria in patients with membranous nephropathy.
    Fujino T, Hasebe N.
    BMC Nephrol; 2016 Nov 17; 17(1):179. PubMed ID: 27855638
    [Abstract] [Full Text] [Related]

  • 39. Tropomyosin Promotes Lamellipodial Persistence by Collaborating with Arp2/3 at the Leading Edge.
    Brayford S, Bryce NS, Schevzov G, Haynes EM, Bear JE, Hardeman EC, Gunning PW.
    Curr Biol; 2016 May 23; 26(10):1312-8. PubMed ID: 27112294
    [Abstract] [Full Text] [Related]

  • 40. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
    Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F.
    Nat Genet; 2016 Apr 23; 48(4):457-65. PubMed ID: 26878725
    [Abstract] [Full Text] [Related]

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