ArticleBiochimica et biophysica acta. Molecular basis of disease2022
TRPC6 N338S is a gain-of-function mutant identified in patient with doxorubicin-induced cardiotoxicity.
Article in Biochimica et biophysica acta. Molecular basis of disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Functional evaluation of TRPC6 missense variants in cancer patients via molecular docking analysis compared with patch Clamp electrophysiology.The Journal of biological chemistry · 2026Article
- Gain-of-Function VariantCirculation. Genomic and precision medicine · 2026Article
- Review
- Functional Evaluation ofbioRxiv : the preprint server for biology · 2026Article
- Precision Cardio-oncology: Update on Omics-Based Diagnostic Methods.Current treatment options in oncology · 2024Review
- Sorbs2 Deficiency and Vascular BK Channelopathy in Diabetes.Circulation research · 2024Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
The canonical transient receptor potential 6 gene, TRPC6, has been implicated as a putative risk gene for chemotherapy-induced congestive heart failure, but knowledge of specific risk variants is lacking. Following our genome-wide association study and subsequent fine-mapping, a rare missense mutant of TRPC6 N338S, was identified in a breast cancer patient who received anthracycline-containing chemotherapy regiments and developed congestive heart failure. However, the function of N338S mutant has not been examined. Using intracellular Ca
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