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Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality

Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is sexually dimorphic, with increased incidence in females. A GWAS identified a female-specific AIS susceptibility locus near the PAX1 gene. Here, we used mouse enhancer assays, three mouse enhancer knockouts and subsequent ph...

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Detalles Bibliográficos
Autores principales: Ushiki, Aki, Sheng, Rory R., Zhang, Yichi, Zhao, Jingjing, Nobuhara, Mai, Murray, Elizabeth, Ruan, Xin, Rios, Jonathan J., Wise, Carol A., Ahituv, Nadav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120660/
https://www.ncbi.nlm.nih.gov/pubmed/37090618
http://dx.doi.org/10.1101/2023.04.12.536497