Associated Papers
Gain-of-Function Variant TRPC6 A404V Is Associated With Doxorubicin-Related Cardiomyopathy.
Wu Y et al.
Circulation. Genomic and Precision Medicine, 2026
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
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
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
Post-Translational Modification and Natural Mutation of TRPC Channels.
Liu X et al.
Cells, 2020
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 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
Association of Genetic Variants at TRPC6 With Chemotherapy-Related Heart Failure.
Norton N et al.
Frontiers in Cardiovascular Medicine, 2020
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y et al.
Gene, 2017
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
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
TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy.
Hofstra JM et al.
Plos One, 2014
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
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease.
Obeidová L et al.
Folia Biologica, 2012
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
Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.
Everett KV et al.
Human Genetics, 2009
A novel TRPC6 mutation that causes childhood FSGS.
Heeringa SF et al.
Plos One, 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