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Article

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

Journal of the American Society of Nephrology : JASN - 1 Sept 2016

Riehle Marc, Büscher Anja K, Gohlke Björn-Oliver, Kaßmann Mario, Kolatsi-Joannou Maria, Bräsen Jan H, Nagel Mato, Becker Jan U, Winyard Paul, Hoyer Peter F, Preissner Robert, Krautwurst Dietmar, Gollasch Maik, Weber Stefanie, Harteneck Christian

Abstract excerpt

FSGS is a CKD with heavy proteinuria that eventually progresses to ESRD. Hereditary forms of FSGS have been linked to mutations in the transient receptor potential cation channel, subfamily C, member 6 (TRPC6) gene encoding a nonselective cation channel. Most of these TRPC6 mutations cause a gain-of-function phenotype, leading to calcium-triggered podocyte cell death, but the underlying molecular mechanisms are...

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glomerulosclerosis, Focal Segmental

Share to Ion Channels and Receptors

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Share to Renal Diseases and Glomerulopathies

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Source

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Identifiers

PMID: 26892346
DOI: 10.1681/ASN.2015030318
PMCID: PMC5004639

Genes

TRPC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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