TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Riehle, Marc; Büscher, Anja K; Gohlke, Björn-Oliver; Kaßmann, Mario; Kolatsi-Joannou, Maria; Bräsen, Jan H; Nagel, Mato; Becker, Jan U; Winyard, Paul; Hoyer, Peter F; Preissner, Robert; Krautwurst, Dietmar; Gollasch, Maik; Weber, Stefanie; Harteneck, Christian.
J Am Soc Nephrol
; 27(9): 2771-83, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26892346
TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis.
TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology.
2007 Young Investigator Award: TRP'ing into a new era for glomerular disease.
TRPC6 channel as an emerging determinant of the podocyte injury susceptibility in kidney diseases.
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease.
Regulation of TRPC6 ion channels in podocytes - Implications for focal segmental glomerulosclerosis and acquired forms of proteinuric diseases.
Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.