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Noncoding Variants as Genetic Contributors to Autoimmune Disease Pathogenesis
- Source :
- The Journal of investigative dermatology. 140(2)
- Publication Year :
- 2019
-
Abstract
- 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 mechanism contributing to the polygenic autoimmune diseases of systemic lupus erythematosus and systemic sclerosis.
- Subjects :
- 0301 basic medicine
Dermatology
Biology
Biochemistry
Autoimmune Diseases
Pathogenesis
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Lupus Erythematosus, Systemic
Allele
Molecular Biology
Alleles
Autoimmune disease
Genetics
Cell Biology
medicine.disease
beta Karyopherins
Chromatin
030104 developmental biology
030220 oncology & carcinogenesis
Interferon Regulatory Factors
Molecular mechanism
IRF5
Subjects
Details
- ISSN :
- 15231747
- Volume :
- 140
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- The Journal of investigative dermatology
- Accession number :
- edsair.doi.dedup.....168f92c3ab7190d45b3d7ac878ab66d5