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

Cell death & disease - 20 Feb 2023

Zhang Lishan, Fang Ziqi, Cheng Guangdong, He Mengting, Lin Yanliang

Abstract excerpt

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 carrying the corresponding Hoxd13mutation were generated. The results showed that the homozygous mutation of Hoxd13 also...

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Identifiers

PMID: 36804539
DOI: 10.1038/s41419-023-05681-8
PMCID: PMC9941469

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