Article
An intronic MYLK variant associated with inflammatory lung disease regulates promoter activity of the smooth muscle myosin light chain kinase isoform.
Journal of molecular medicine (Berlin, Germany) - 1 Mar 2012
Han Yoo Jeong, Ma Shwu-Fan, Wade Michael S, Flores Carlos, Garcia Joe G N
Abstract excerpt
Intronic single-nucleotide polymorphisms (SNPs) are commonly associated with complex diseases but exhibit unknown biologic functionality. Myosin light-chain kinase (MLCK), a central cytoskeletal regulator encoded by MYLK, plays a key pathophysiological role in complex diseases including acute lung injury (ALI) and asthma. We studied the potential regulatory roles of two intronic MYLK SNPs (rs936170 and rs820336)...
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