Discover Community Create You

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

Article

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

20 Oct 2017

Abstract excerpt

Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, and genetic factors. Cis-acting expression quantitative trait loci (cis-eQTLs) can be implicated in the regulation of genes by favoring or hampering the expression of one allele over the other. Thus, the presence of such loci...

Read the complete abstract on PubMed

Topics

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

Share to Genomic variations and chromosomal abnormalities
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29053642
DOI: 10.3390/genes8100283

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal DiseasesPMID 29053642Read ↗

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retinaSemantic proximity Read ↗

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

Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data.Semantic proximity Read ↗

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Semantic proximity Read ↗

Single-cell analysis of the epigenome and 3D chromatin architecture in the human retinaSemantic proximity Read ↗

Iso-Seq enables discovery of novel isoform variants in human retina at single cell resolutionSemantic proximity Read ↗

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal diseaseSemantic proximity Read ↗

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

Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samplesSemantic proximity Read ↗

Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanismsSemantic proximity Read ↗

The retinal RNA editome is concentrated in photoreceptor-specific genes and genetically linked to vision lossSemantic proximity Read ↗

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.Semantic proximity Read ↗

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