ArticleBMC nephrology2013
A novel TRPC6 mutation in a family with podocytopathy and clinical variability.
Article in BMC nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Deep Learning Enabled 3D Multi-Omic Analysis Reveals Molecular Signatures of Heterogeneous Response to Chemotherapy in Pancreatic Cancer.bioRxiv : the preprint server for biology · 2026Article
- Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.Journal of the American Society of Nephrology : JASN · 2025Article
- Article
- Article
- Review
- Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review.Frontiers in pediatrics · 2020Article
- Structure-function analyses of the ion channel TRPC3 reveal that its cytoplasmic domain allosterically modulates channel gating.The Journal of biological chemistry · 2018Article
- Cryo-EM structure of the cytoplasmic domain of murine transient receptor potential cation channel subfamily C member 6 (TRPC6).The Journal of biological chemistry · 2018Article
- Proline-dependent and basophilic kinases phosphorylate human TRPC6 at serine 14 to control channel activity through increased membrane expression.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
- Synaptopodin Limits TRPC6 Podocyte Surface Expression and Attenuates Proteinuria.Journal of the American Society of Nephrology : JASN · 2016Article
- Phospholipase C epsilon (PLCε) induced TRPC6 activation: a common but redundant mechanism in primary podocytes.Journal of cellular physiology · 2015Article
- Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS.British journal of medicine and medical research · 2015Article
- Focal segmental glomerulosclerosis and end-stage kidney disease in children.Journal of nephropharmacology · 2015Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. CASE PRESENTATION: A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease.
conclusionsThe current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases.
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