Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elisabet Einarsdottir, Yanhui Fan, Lilian Antunes, Yared H Kidane, Reuel Cornelia, Rory R Sheng, Yichi Zhang, Jimin Pei, Nick V Grishin, Bret M Evers, Jason Pui Yin Cheung, John A Herring, Chikashi Terao, You-Qiang Song, Christina A Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J Rios, Nadav Ahituv, Carol A Wise
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 sought to define the roles of PAX1 and newly identified AIS-associated genes in the developmental mechanism of AIS...
January 26, 2024: ELife