Article

A Novel TRPC6 Mutation Causes Autosomal Dominant FSGS

2025-02-15

Abstract excerpt

<h4>SUMMARY</h4> FSGS is the most common primary glomerular lesion that causes kidney failure in the US. FSGS results from injury or loss of glomerular visceral epithelial cells (i.e. podocytes). Pathogenic variants in TRPC6 can cause FSGS through dysregulated calcium conductance and associated disturbances in podocyte physiology. Here, we describe a 5-generation kindred with FSGS caused by a novel compound C-te...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 30324bc3-0430-58cc-90b8-32764473a309
DOI: 10.1101/2025.02.11.637765

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel TRPC6 Mutation Causes Autosomal Dominant FSGSDOI 10.1101/2025.02.11.637765Read

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.Semantic proximity Read

Natural History and Clinicopathological Associations of TRPC6-Associated PodocytopathySemantic proximity Read

An Inducible hiPSC-Derived Human Podocyte Model for Functional Analysis of TRPC6 Variants Associated with FSGS.Semantic proximity Read

Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.Semantic proximity Read

TRPC6 and FSGS: the latest TRP channelopathy.Semantic proximity Read

TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology.Semantic proximity Read

TRPC channel modulation in podocytes-inching toward novel treatments for glomerular disease.Semantic proximity Read

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.Semantic proximity Read

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.Semantic proximity Read

A novel TRPC6 mutation that causes childhood FSGS.Semantic proximity Read

TRPC Channels in Proteinuric Kidney DiseasesSemantic proximity Read

TRPpathies.Semantic proximity Read