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
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
Ichikawa Y et al.
Pediatric Nephrology (berlin, Germany), 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Mitrotti A et al.
International Journal of Molecular Sciences, 2024
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome Medicine, 2023
An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
Batool L et al.
Cellular and Molecular Life Sciences : Cmls, 2023
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
Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach.
El Ters M et al.
Transplantation, 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
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 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
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
[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
Structural basis for pharmacological modulation of the TRPC6 channel.
Bai Y et al.
Elife, 2020
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 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
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
Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6.
Talbot BE et al.
The Journal of Biological Chemistry, 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
-254C>G SNP in the TRPC6 Gene Promoter Influences Its Expression via Interaction with the NF-κB Subunit RELA in Steroid-Resistant Nephrotic Syndrome Children.
Kuang X et al.
International Journal of Genomics, 2019
Molecular basis for the sensitivity of TRP channels to polyunsaturated fatty acids.
Riehle M et al.
Naunyn-schmiedeberg's Archives of Pharmacology, 2018
Structure of the receptor-activated human TRPC6 and TRPC3 ion channels.
Tang Q et al.
Cell Research, 2018
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Tan W et al.
Pediatric Nephrology (berlin, Germany), 2018
Pharmacological inhibition of focal segmental glomerulosclerosis-related, gain of function mutants of TRPC6 channels by semi-synthetic derivatives of larixol.
Urban N et al.
British Journal of Pharmacology, 2017
Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.
Iqbal Z et al.
F1000research, 2017
TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Riehle M et al.
Journal of the American Society of Nephrology : Jasn, 2016
Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.
Sun ZJ et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2015
In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome.
Joshi BB et al.
Gene, 2015
Phospholipase C epsilon (PLCε) induced TRPC6 activation: a common but redundant mechanism in primary podocytes.
Kalwa H et al.
Journal of Cellular Physiology, 2015
TRPC6 gene promoter polymorphisms in steroid resistant nephrotic syndrome children.
Mahesh Kumar KB et al.
Journal of Nephropharmacology, 2015
Therapeutic target for nephrotic syndrome: Identification of novel slit diaphragm associated molecules.
Fukusumi Y et al.
World Journal of Nephrology, 2014
A mutation in TRPC6 channels abolishes their activation by hypoosmotic stretch but does not affect activation by diacylglycerol or G protein signaling cascades.
Wilson C et al.
American Journal of Physiology. Renal Physiology, 2014
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
Gain-of-function mutations in transient receptor potential C6 (TRPC6) activate extracellular signal-regulated kinases 1/2 (ERK1/2).
Chiluiza D et al.
The Journal of Biological Chemistry, 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
SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity.
Carrasquillo R et al.
Bmc Cell Biology, 2012
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 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
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
Familial collapsing focal segmental glomerulosclerosis.
Liakopoulos V et al.
Clinical Nephrology, 2011
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011