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Wide-spread enhancer effect of SNP rs2279590 on regulating epoxide hydrolase-2 and protein tyrosine kinase 2-beta gene expression.

Gene - 20 Feb 2023

Padhy Biswajit, Kapuganti Ramani Shyam, Hayat Bushra, Mohanty Pranjya Paramita, Alone Debasmita Pankaj

Abstract excerpt

Polymorphisms in the PTK2B-CLU locus have been associated with various neurodegenerative disorders including pseudoexfoliation glaucoma, Alzheimer's and Parkinson's. Many of these genomic variants are within enhancer elements and modulate genes associated with the disease pathogenesis. However, mechanisms by which they control the gene expression is unknown. Previously, we have shown that clusterin enhancer...

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PMID: 36470481
DOI: 10.1016/j.gene.2022.147096

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