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182 related items for PubMed ID: 34387384

  • 1. Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.
    Liu Z, Zhang H, Zhao S, Zhang Q, Zhang R, Han Y, Shao L, Zhao X.
    Nephrology (Carlton); 2021 Dec; 26(12):1018-1025. PubMed ID: 34387384
    [Abstract] [Full Text] [Related]

  • 2. Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients.
    Zhu B, Chen N, Wang ZH, Pan XX, Ren H, Zhang W, Wang WM.
    Mutat Res; 2009 May 12; 664(1-2):84-90. PubMed ID: 19124028
    [Abstract] [Full Text] [Related]

  • 3. TRPC6 Mutational Analysis in Iranian Children With Focal Segmental Glomerulosclerosis.
    Gheissari A, Meamar R, Kheirollahi M, Rouigari M, Dehbashi M, Dehghani L, Abedini A.
    Iran J Kidney Dis; 2018 Nov 12; 12(6):341-349. PubMed ID: 30595563
    [Abstract] [Full Text] [Related]

  • 4. An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
    Batool L, Hariharan K, Xu Y, Kaßmann M, Tsvetkov D, Gohlke BO, Kaden S, Gossen M, Nürnberg B, Kurtz A, Gollasch M.
    Cell Mol Life Sci; 2023 Aug 24; 80(9):265. PubMed ID: 37615749
    [Abstract] [Full Text] [Related]

  • 5. New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
    Hofstra JM, Lainez S, van Kuijk WH, Schoots J, Baltissen MP, Hoefsloot LH, Knoers NV, Berden JH, Bindels RJ, van der Vlag J, Hoenderop JG, Wetzels JF, Nijenhuis T.
    Nephrol Dial Transplant; 2013 Jul 24; 28(7):1830-8. PubMed ID: 23291369
    [Abstract] [Full Text] [Related]

  • 6. Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
    Zhang Q, Ma J, Xie J, Wang Z, Zhu B, Hao X, Yang L, Ren H, Chen N.
    Contrib Nephrol; 2013 Jul 24; 181():91-100. PubMed ID: 23689571
    [Abstract] [Full Text] [Related]

  • 7. A novel TRPC6 mutation that causes childhood FSGS.
    Heeringa SF, Möller CC, Du J, Yue L, Hinkes B, Chernin G, Vlangos CN, Hoyer PF, Reiser J, Hildebrandt F.
    PLoS One; 2009 Nov 10; 4(11):e7771. PubMed ID: 19936226
    [Abstract] [Full Text] [Related]

  • 8. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.
    Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G, Aucella F, Schirinzi A, Emma F, Massella L, Messina G, De Palo T, Ranieri E, Ghiggeri GM, Gesualdo L.
    Clin J Am Soc Nephrol; 2011 Jul 10; 6(7):1626-34. PubMed ID: 21734084
    [Abstract] [Full Text] [Related]

  • 9. TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
    Riehle M, Büscher AK, Gohlke BO, Kaßmann M, Kolatsi-Joannou M, Bräsen JH, Nagel M, Becker JU, Winyard P, Hoyer PF, Preissner R, Krautwurst D, Gollasch M, Weber S, Harteneck C.
    J Am Soc Nephrol; 2016 Sep 10; 27(9):2771-83. PubMed ID: 26892346
    [Abstract] [Full Text] [Related]

  • 10. Contribution of Coiled-Coil Assembly to Ca2+/Calmodulin-Dependent Inactivation of TRPC6 Channel and its Impacts on FSGS-Associated Phenotypes.
    Polat OK, Uno M, Maruyama T, Tran HN, Imamura K, Wong CF, Sakaguchi R, Ariyoshi M, Itsuki K, Ichikawa J, Morii T, Shirakawa M, Inoue R, Asanuma K, Reiser J, Tochio H, Mori Y, Mori MX.
    J Am Soc Nephrol; 2019 Sep 10; 30(9):1587-1603. PubMed ID: 31266820
    [Abstract] [Full Text] [Related]

  • 11. Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
    Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S.
    Clin Nephrol; 2012 Jul 10; 78(1):47-53. PubMed ID: 22732337
    [Abstract] [Full Text] [Related]

  • 12. Structural mechanism of human TRPC3 and TRPC6 channel regulation by their intracellular calcium-binding sites.
    Guo W, Tang Q, Wei M, Kang Y, Wu JX, Chen L.
    Neuron; 2022 Mar 16; 110(6):1023-1035.e5. PubMed ID: 35051376
    [Abstract] [Full Text] [Related]

  • 13. Gain-of-function, focal segmental glomerulosclerosis Trpc6 mutation minimally affects susceptibility to renal injury in several mouse models.
    Brown BJ, Boekell KL, Stotter BR, Talbot BE, Schlondorff JS.
    PLoS One; 2022 Mar 16; 17(8):e0272313. PubMed ID: 35913909
    [Abstract] [Full Text] [Related]

  • 14. Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.
    Büscher AK, Celebi N, Hoyer PF, Klein HG, Weber S, Hoefele J.
    Pediatr Nephrol; 2018 Mar 16; 33(3):433-437. PubMed ID: 29038887
    [Abstract] [Full Text] [Related]

  • 15. The Calcium-Dependent Protease Calpain-1 Links TRPC6 Activity to Podocyte Injury.
    Verheijden KAT, Sonneveld R, Bakker-van Bebber M, Wetzels JFM, van der Vlag J, Nijenhuis T.
    J Am Soc Nephrol; 2018 Aug 16; 29(8):2099-2109. PubMed ID: 29954830
    [Abstract] [Full Text] [Related]

  • 16. A novel gain-of-function mutation in transient receptor potential C6 that causes podocytes injury.
    Yu M, Hu J, Ju T, Wang R, Wang M, Gao C, Xia Z.
    Cell Mol Biol (Noisy-le-grand); 2024 May 27; 70(5):284-288. PubMed ID: 38814201
    [Abstract] [Full Text] [Related]

  • 17. Pharmacological inhibition of focal segmental glomerulosclerosis-related, gain of function mutants of TRPC6 channels by semi-synthetic derivatives of larixol.
    Urban N, Neuser S, Hentschel A, Köhling S, Rademann J, Schaefer M.
    Br J Pharmacol; 2017 Nov 27; 174(22):4099-4122. PubMed ID: 28800680
    [Abstract] [Full Text] [Related]

  • 18. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
    Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R, FSGS Study Group, Zamora I, López-Hellin J, Madrid A, Ventura C, Vilalta R, Espinosa L, García C, Melgosa M, Navarro M, Giménez A, Cots JV, Alexandra S, Caramelo C, Egido J, San José MD, de la Cerda F, Sala P, Raspall F, Vila A, Daza AM, Vázquez M, Ecija JL, Espinosa M, Justa ML, Poveda R, Aparicio C, Rosell J, Muley R, Montenegro J, González D, Hidalgo E, de Frutos DB, Trillo E, Gracia S, de los Ríos FJ.
    Nephrol Dial Transplant; 2009 Oct 27; 24(10):3089-96. PubMed ID: 19458060
    [Abstract] [Full Text] [Related]

  • 19. Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.
    Sun ZJ, Ng KH, Liao P, Zhang Y, Ng JL, Liu ID, Tan PH, Chong SS, Chan YH, Liu J, Davila S, Heng CK, Jordan SC, Soong TW, Yap HK.
    Am J Transplant; 2015 Dec 27; 15(12):3229-38. PubMed ID: 26147534
    [Abstract] [Full Text] [Related]

  • 20. Tyrosine phosphorylation-dependent activation of TRPC6 regulated by PLC-γ1 and nephrin: effect of mutations associated with focal segmental glomerulosclerosis.
    Kanda S, Harita Y, Shibagaki Y, Sekine T, Igarashi T, Inoue T, Hattori S.
    Mol Biol Cell; 2011 Jun 01; 22(11):1824-35. PubMed ID: 21471003
    [Abstract] [Full Text] [Related]

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