Associated Papers
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.
McAnallen SM et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
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
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.
Liu Z et al.
Nephrology (carlton, Vic.), 2021
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Cryo-EM structure of the cytoplasmic domain of murine transient receptor potential cation channel subfamily C member 6 (TRPC6).
Azumaya CM et al.
The Journal of Biological Chemistry, 2018
TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Riehle M et al.
Journal of the American Society of Nephrology : Jasn, 2016
In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome.
Joshi BB et al.
Gene, 2015
Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS.
Canales CP et al.
British Journal of Medicine and Medical Research, 2015
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
Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
Barua M et al.
Kidney International, 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