Associated Papers
Delayed inactivation of TRPC6 as a determinative characteristic of FSGS-associated variants.
Okada R et al.
The Journal of Biological Chemistry, 2025
An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
Batool L et al.
Cellular and Molecular Life Sciences : Cmls, 2023
TRPC6 N338S is a gain-of-function mutant identified in patient with doxorubicin-induced cardiotoxicity.
Lu T et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2022
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Post-Translational Modification and Natural Mutation of TRPC Channels.
Liu X et al.
Cells, 2020
Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review.
Wang M et al.
Frontiers in Pediatrics, 2020
TRPC6 Binds to and Activates Calpain, Independent of Its Channel Activity, and Regulates Podocyte Cytoskeleton, Cell Adhesion, and Motility.
Farmer LK et al.
Journal of the American Society of Nephrology : Jasn, 2019
Contribution of Coiled-Coil Assembly to Ca2+/Calmodulin-Dependent Inactivation of TRPC6 Channel and its Impacts on FSGS-Associated Phenotypes.
Polat OK et al.
Journal of the American Society of Nephrology : Jasn, 2019
TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Riehle M et al.
Journal of the American Society of Nephrology : Jasn, 2016
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
Hofstra JM et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
A novel TRPC6 mutation in a family with podocytopathy and clinical variability.
Mottl AK et al.
Bmc Nephrology, 2013
Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
Zhang Q et al.
Contributions to Nephrology, 2013
TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.
Mir S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Tyrosine phosphorylation-dependent activation of TRPC6 regulated by PLC-γ1 and nephrin: effect of mutations associated with focal segmental glomerulosclerosis.
Kanda S et al.
Molecular Biology of the Cell, 2011
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
Tyrosine kinase signaling in kidney glomerular podocytes.
Hattori S et al.
Journal of Signal Transduction, 2011
TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology.
Dryer SE et al.
American Journal of Physiology. Renal Physiology, 2010
Renal TRPathies.
Dietrich A et al.
Journal of the American Society of Nephrology : Jasn, 2010
A novel TRPC6 mutation that causes childhood FSGS.
Heeringa SF et al.
Plos One, 2009
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
Löwik MM et al.
European Journal of Pediatrics, 2009
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
Santín S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients.
Zhu B et al.
Mutation Research, 2009
TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.
Schlöndorff J et al.
American Journal of Physiology. Cell Physiology, 2009
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.
Reiser J et al.
Nature Genetics, 2005