A novel Hoxd13 mutation causes synpolydactyly and promotes osteoclast differentiation by regulating pSmad5/p65/c-Fos/Rank axis

The mutations of HOXD13 gene have been involved in synpolydactyly (SPD), and the polyalanine extension mutation of Hoxd13 gene could lead to SPD in mice. In this study, a novel missense mutation of Hoxd13 (NM_000523: exon2: c.G917T: p.R306L) was identified in a Chinese family with SPD. The mice carr...

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Detalles Bibliográficos
Autores principales: Zhang, Lishan, Fang, Ziqi, Cheng, Guangdong, He, Mengting, Lin, Yanliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9941469/
https://www.ncbi.nlm.nih.gov/pubmed/36804539
http://dx.doi.org/10.1038/s41419-023-05681-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9941469/
https://www.ncbi.nlm.nih.gov/pubmed/36804539
http://dx.doi.org/10.1038/s41419-023-05681-8

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