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Journal Abstract Search

205 related items for PubMed ID: 30661770

  • 1. 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]

  • 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 07; 30(12):2338-2353. PubMed ID: 31732614
    [Abstract] [Full Text] [Related]

  • 3. Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review.
    Fang Z, Zhang C, Jin Y, Tong J, Liu J, Hao X, Weng Q, Yu S, Du W, Cai Y, Zheng Q, Yang L, Ren H, Pan X, Xie J.
    Am J Kidney Dis; 2023 Feb 07; 81(2):240-244. PubMed ID: 35970429
    [Abstract] [Full Text] [Related]

  • 4. 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 07; 33(12):2174-2193. PubMed ID: 36137753
    [Abstract] [Full Text] [Related]

  • 5. 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 07; 123(12):5179-89. PubMed ID: 24270420
    [Abstract] [Full Text] [Related]

  • 6. 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 07; 29(8):2123-2138. PubMed ID: 29959197
    [Abstract] [Full Text] [Related]

  • 7. The Rho-GTPase binding protein IQGAP2 is required for the glomerular filtration barrier.
    Sugano Y, Lindenmeyer MT, Auberger I, Ziegler U, Segerer S, Cohen CD, Neuhauss SC, Loffing J.
    Kidney Int; 2015 Nov 07; 88(5):1047-56. PubMed ID: 26154927
    [Abstract] [Full Text] [Related]

  • 8. 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 07; 125(6):2375-84. PubMed ID: 25961457
    [Abstract] [Full Text] [Related]

  • 9. Disruption of the exocyst induces podocyte loss and dysfunction.
    Nihalani D, Solanki AK, Arif E, Srivastava P, Rahman B, Zuo X, Dang Y, Fogelgren B, Fermin D, Gillies CE, Sampson MG, Lipschutz JH.
    J Biol Chem; 2019 Jun 28; 294(26):10104-10119. PubMed ID: 31073028
    [Abstract] [Full Text] [Related]

  • 10. Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.
    Jobst-Schwan T, Hoogstraten CA, Kolvenbach CM, Schmidt JM, Kolb A, Eddy K, Schneider R, Ashraf S, Widmeier E, Majmundar AJ, Hildebrandt F.
    Kidney Int; 2019 May 28; 95(5):1079-1090. PubMed ID: 31010479
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 123(8):3243-53. PubMed ID: 23867502
    [Abstract] [Full Text] [Related]

  • 12. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
    Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V, Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A, UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S.
    Am J Hum Genet; 2021 Feb 04; 108(2):357-367. PubMed ID: 33508234
    [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 04; 32(5):801-809. PubMed ID: 27942854
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. 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]

  • 17. Novel variants in CRB2 targeting the malfunction of slit diaphragm related to focal segmental glomerulosclerosis.
    Yang Q, Tang D, Gan C, Bai M, Song X, Jiang W, Li Q, Chen Y, Zhang A, Wang M.
    Pediatr Nephrol; 2024 Jan 01; 39(1):149-165. PubMed ID: 37452832
    [Abstract] [Full Text] [Related]

  • 18. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
    Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F.
    J Clin Invest; 2011 May 01; 121(5):2013-24. PubMed ID: 21540551
    [Abstract] [Full Text] [Related]

  • 19. Glomerular Transcriptome Profiles in Focal Glomerulosclerosis: New Genes and Pathways for Steroid Resistance.
    Tong J, Jin Y, Weng Q, Yu S, Jafar Hussain HM, Ren H, Xu J, Zhang W, Li X, Wang W, Xie J, Chen N.
    Am J Nephrol; 2020 May 01; 51(6):442-452. PubMed ID: 32348995
    [Abstract] [Full Text] [Related]

  • 20. Podocyte expression of nonmuscle myosin heavy chain-IIA decreases in idiopathic nephrotic syndrome, especially in focal segmental glomerulosclerosis.
    Miura K, Kurihara H, Horita S, Chikamoto H, Hattori M, Harita Y, Tsurumi H, Kajiho Y, Sawada Y, Sasaki S, Igarashi T, Kunishima S, Sekine T.
    Nephrol Dial Transplant; 2013 Dec 01; 28(12):2993-3003. PubMed ID: 24042022
    [Abstract] [Full Text] [Related]

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