Article
Characterisation of a COPD-associated nephronectin (NPNT) functional splicing genetic variant in human lung tissue via long-read sequencing.
The European respiratory journal - 1 Apr 2025
Saferali Aabida, Wienecke Anastacia N, Xu Zhonghui, Liu Tao, Sheynkman Gloria M, Hersh Craig P, Cho Michael H, Silverman Edwin K, Zhou Xiaobo, Wilson Carole L, Schnapp Lynn M, Randell Scott H, Ramos Silvia B V, Laederach Alain, Vollmers Christopher, Castaldi Peter J
Abstract excerpt
BACKGROUND: Identification of COPD disease-causing genes is an important tool for understanding why COPD develops, who is at highest COPD risk and how new COPD treatments can be developed. Previous COPD genetic studies have identified a highly significant genetic association near NPNT (nephronectin), a gene involved in tissue repair, but the biological mechanisms underlying this association are unknown. METHODS:...
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