Associated Papers
Functional Evaluation of TRPC6 Missense Variants in Cancer Patients via Molecular Docking Analysis Compared with Patch Clamp Electrophysiology.
Wu Y et al.
Biorxiv : the Preprint Server for Biology, 2026
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
An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
Batool L et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Transient receptor potential canonical type 6 (TRPC6) O-GlcNAcylation at Threonine-221 plays potent role in channel regulation.
Mishra S et al.
Iscience, 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
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
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
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
Gq signaling causes glomerular injury by activating TRPC6.
Wang L et al.
The Journal of Clinical Investigation, 2015
Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS.
Canales CP et al.
British Journal of Medicine and Medical Research, 2015
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
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
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
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