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
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Delayed inactivation of TRPC6 as a determinative characteristic of FSGS-associated variants.
Okada R et al.
The Journal of Biological Chemistry, 2025
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature.
Gokce I et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 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
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
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Hanafusa H et al.
American Journal of Medical Genetics. Part A, 2021
[Four cases of nephrotic syndrome with TRPC6 gene variations and literature review].
Sun LW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
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
In vivo selective inhibition of TRPC6 by antagonist BI 749327 ameliorates fibrosis and dysfunction in cardiac and renal disease.
Lin BL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N 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
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
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 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