ArticleDiabetes2013
From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy.
Article in Diabetes, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 39 citations in OpenAlex.
- Hypoxia inducible factor network reflects kidney disease progression in diabetes and sodium-glucose co-transporters inhibition.Signal transduction and targeted therapy · 2026Article
- High FRMD3 expression is prognostic for worse survival in rectal cancer patients treated with CCRT.International journal of clinical oncology · 2021Article
- Article
- Genetics of diabetes mellitus and diabetes complications.Nature reviews. Nephrology · 2020Review
- Genetic and Epigenetic Studies in Diabetic Kidney Disease.Frontiers in genetics · 2019Review
- GWAS signals revisited using human knockouts.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- No Association Between MicroRNA-608 rs4919510 G>C Polymorphism and Digestive System Cancers Susceptibility: A Meta-Analysis Based on 10,836 Individuals.Frontiers in physiology · 2018Article
- Diabetic Microvascular Disease: An Endocrine Society Scientific Statement.The Journal of clinical endocrinology and metabolism · 2017Review
- Vascular complications in diabetes: old messages, new thoughts.Diabetologia · 2017Review
- Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.Journal of the American Society of Nephrology : JASN · 2016Article
- rs1888747 polymorphism in the FRMD3 gene, gene and protein expression: role in diabetic kidney disease.Diabetology & metabolic syndrome · 2016Article
- Integrative Biology of Diabetic Kidney Disease.Kidney diseases (Basel, Switzerland) · 2015Article
- Genetics of diabetic nephropathy: a long road of discovery.Current diabetes reports · 2015Review
- Genes Caught In Flagranti: Integrating Renal Transcriptional Profiles With Genotypes and Phenotypes.Seminars in nephrology · 2015Review
- Genetics and Epigenetics of Diabetic Nephropathy.Kidney diseases (Basel, Switzerland) · 2015Review
- Evaluation of neurotrophic tyrosine receptor kinase 2 (NTRK2) as a positional candidate gene for variation in estimated glomerular filtration rate (eGFR) in Mexican American participants of San Antonio Family Heart study.Journal of biomedical science · 2015Article
- FRMD3 gene: its role in diabetic kidney disease. A narrative review.Diabetology & metabolic syndrome · 2015Review
- Defining nephrotic syndrome from an integrative genomics perspective.Pediatric nephrology (Berlin, Germany) · 2015Review
- Gene-gene and gene-environment interactions in apolipoprotein L1 gene-associated nephropathy.Clinical journal of the American Society of Nephrology : CJASN · 2014Review
- Integrative biology identifies shared transcriptional networks in CKD.Journal of the American Society of Nephrology : JASN · 2014Article
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12 authors at 5 institutions in 2 countries.
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Abstract
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 nephropathy (DN)-associated SNP located in the promoter region of the gene FRMD3. The approach integrates pathway analyses with transcriptional regulatory pattern-based promoter modeling and allows the identification of a transcriptional framework affected by the DN-associated SNP in the FRMD3 promoter. This framework provides a testable hypothesis for mechanisms of genomic variation and transcriptional regulation in the context of DN. Our model proposes a possible transcriptional link through which the polymorphism in the FRMD3 promoter could influence transcriptional regulation within the bone morphogenetic protein (BMP)-signaling pathway. These findings provide the rationale to interrogate the biological link between FRMD3 and the BMP pathway and serve as an example of functional genomics-based hypothesis generation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.