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Article

From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy.

Diabetes - 1 Jul 2013

Martini Sebastian, Nair Viji, Patel Sanjeevkumar R, Eichinger Felix, Nelson Robert G, Weil E Jennifer, Pezzolesi Marcus G, Krolewski Andrzej S, Randolph Ann, Keller Benjamin J, Werner Thomas, Kretzler Matthias

Abstract excerpt

Genome-wide association studies have proven to be highly effective at defining relationships between single nucleotide polymorphisms (SNPs) and clinical phenotypes in complex diseases. Establishing a mechanistic link between a noncoding SNP and the clinical outcome is a significant hurdle in translating associations into biological insight. We demonstrate an approach to assess the functional context of a diabetic...

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Share to Diabetic Nephropathies
Share to Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to Models, Genetic

Share to Polymorphism, Single Nucleotide

Share to Promoter Regions, Genetic

Share to Transcription, Genetic

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23434934
DOI: 10.2337/db12-1416
PMCID: PMC3712052

Genes

FRMD3

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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