TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis - PubMed (original) (raw)

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. Hofstra JM, et al. Nephrol Dial Transplant. 2013 Jul;28(7):1830-8. doi: 10.1093/ndt/gfs572. Epub 2013 Jan 4. Nephrol Dial Transplant. 2013. PMID: 23291369

Transient receptor potential channel 6 (TRPC6) protects podocytes during complement-mediated glomerular disease.

Kistler AD, Singh G, Altintas MM, Yu H, Fernandez IC, Gu C, Wilson C, Srivastava SK, Dietrich A, Walz K, Kerjaschki D, Ruiz P, Dryer S, Sever S, Dinda AK, Faul C, Reiser J. Kistler AD, et al. J Biol Chem. 2013 Dec 20;288(51):36598-609. doi: 10.1074/jbc.M113.488122. Epub 2013 Nov 5. J Biol Chem. 2013. PMID: 24194522 Free PMC article.

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. Santín S, et al. Nephrol Dial Transplant. 2009 Oct;24(10):3089-96. doi: 10.1093/ndt/gfp229. Epub 2009 May 20. Nephrol Dial Transplant. 2009. PMID: 19458060