A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.

doi:10.1093/nar/gky166

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.

Nucleic acids research - 20 Apr 2018

Madelaine Romain, Notwell James H, Skariah Gemini, Halluin Caroline, Chen Charles C, Bejerano Gill, Mourrain Philippe

Abstract excerpt

Thousands of human disease-associated single nucleotide polymorphisms (SNPs) lie in the non-coding genome, but only a handful have been demonstrated to affect gene expression and human biology. We computationally identified risk-associated SNPs in deeply conserved non-exonic elements (CNEs) potentially contributing to 45 human diseases. We further demonstrated that human CNE1/rs17421627 associated with retinal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Models, Animal

Share to Enhancer Elements, Genetic

Share to Gene Expression Regulation

Share to MEF2 Transcription Factors

Share to MicroRNAs

Share to Retina

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 29518216
DOI: 10.1093/nar/gky166
PMCID: PMC5909433

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.PMID 29518216Read ↗

Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.Semantic proximity Read ↗

North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variantsSemantic proximity Read ↗

Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis -Regulatory ElementsSemantic proximity Read ↗

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.Semantic proximity Read ↗

Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal <i>Cis</i> -Regulatory ElementsSemantic proximity Read ↗

A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression.Semantic proximity Read ↗

Multi-omics analysis in human retina uncovers ultraconserved <i>cis</i> -regulatory elements at rare eye disease lociSemantic proximity Read ↗

Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits.Semantic proximity Read ↗

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.Semantic proximity Read ↗

Genomic analyses implicate noncoding de novo variants in congenital heart disease.Semantic proximity Read ↗

Genome-wide profiling of angiogenic cis-regulatory elements unravels cis-regulatory SNPs for vascular abnormality.Semantic proximity Read ↗

Functional genomics of the 9p21.3 locus for atherosclerosis: clarity or confusion?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.