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
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
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
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
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
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM et al.
Molecular Biology Reports, 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
TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Riehle M et al.
Journal of the American Society of Nephrology : Jasn, 2016
254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children.
Kuang XY et al.
Pediatric Research, 2013
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 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.
Gigante M et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011