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

Noncoding Variants as Genetic Contributors to Autoimmune Disease Pathogenesis.

The Journal of investigative dermatology - 1 Feb 2020

Javier Ellen, Lu Xiaoming, Kottyan Leah C

Abstract excerpt

Understanding the functions of disease-associated noncoding variants is essential for understanding the molecular mechanisms driving diseases with a genetic cause and for identifying therapeutic targets. Combined computational and experimental analyses have demonstrated that IRF5 is hyperactivated by a pathogenic allele of TNPO3 through long-distance chromatin looping. This finding identifies a molecular...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Autoimmune Diseases
Share to beta Karyopherins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatin

Share to Interferon Regulatory Factors

Share to Lupus Erythematosus, Systemic

Source

Identifiers

PMID: 31980060
DOI: 10.1016/j.jid.2019.07.698

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

Noncoding Variants as Genetic Contributors to Autoimmune Disease Pathogenesis.PMID 31980060Read ↗

An allele-specific functional SNP associated with two autoimmune diseases modulates <i>IRF5</i> expression by long-range chromatin loop formationSemantic proximity Read ↗

Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.Semantic proximity Read ↗

Identifying noncoding risk variants using disease-relevant gene regulatory networks.Semantic proximity Read ↗

Dissecting molecular regulatory mechanisms underlying noncoding susceptibility SNPs associated with 19 autoimmune diseases using multi-omics integrative analysisSemantic proximity Read ↗

Mechanisms and functions of lncRNAs linked to autoimmune disease risk alleles.Semantic proximity Read ↗

Interpreting noncoding genetic variation in complex traits and human disease.Semantic proximity Read ↗

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.Semantic proximity Read ↗

An Allele-Specific Functional SNP Associated with Two Systemic Autoimmune Diseases Modulates IRF5 Expression by Long-Range Chromatin Loop FormationSemantic proximity Read ↗

An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping.Semantic proximity Read ↗

In-depth genetic analysis of 6p21.3 reveals insights into associations between HLA types and complex traits and diseaseSemantic proximity Read ↗

Genetic landscape of rare autoinflammatory disease variants in Qatar and Middle Eastern populations through the integration of whole-genome and exome datasetsSemantic proximity Read ↗

Disease-Linked Regulatory DNA Variants and Homeostatic Transcription Factors in EpidermisSemantic proximity Read ↗

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