PAX9 mutations and genetic synergism in familial tooth agenesis.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of the New York Academy of Sciences"
DOI: 10.1111/nyas.14988
Abstract: Familial tooth agenesis (FTA) is one of the most common craniofacial anomalies in humans. Loss-of-function mutations in PAX9 and WNT10A have been known to cause FTA with various expressivity. In this study, we identified five… read more here.
Keywords: genetic synergism; pax9; familial tooth; agenesis pax9 ... See more keywords
PAX9 in Cancer Development
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DOI: 10.3390/ijms23105589
Abstract: Paired box 9 (PAX9) is a transcription factor of the PAX family functioning as both a transcriptional activator and repressor. Its functional roles in the embryonic development of various tissues and organs have been well… read more here.
Keywords: cancer development; development; pax9; pax9 cancer ... See more keywords
Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns
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DOI: 10.3390/ijms23158142
Abstract: The purpose of this research was to investigate and identify PAX9 gene variants in four Chinese families with non-syndromic tooth agenesis. We identified pathogenic gene variants by whole-exome sequencing (WES) and Sanger sequencing and then… read more here.
Keywords: syndromic tooth; non syndromic; related non; pax9 ... See more keywords