Article
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
eLife - 26 Jan 2024
Yu Hao, Khanshour Anas M, Ushiki Aki, Otomo Nao, Koike Yoshinao, Einarsdottir Elisabet, Fan Yanhui, Antunes Lilian, Kidane Yared H, Cornelia Reuel, Sheng Rory R, Zhang Yichi, Pei Jimin, Grishin Nick V, Evers Bret M, Cheung Jason Pui Yin, Herring John A, Terao Chikashi, Song You-Qiang, Gurnett Christina A, Gerdhem Paul, Ikegawa Shiro, Rios Jonathan J, Ahituv Nadav, Wise Carol A
Abstract excerpt
Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms that drive AIS are largely unknown. We previously defined a female-specific AIS genetic risk locus in an enhancer near the PAX1 gene. Here, we...
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