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Article

Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans.

The Journal of biological chemistry - 13 Feb 2004

Mensah John K, Ogawa Takuya, Kapadia Hitesh, Cavender Adriana C, D'Souza Rena N

Abstract excerpt

Pax9 is a paired domain-containing transcription factor that plays an essential role in the patterning of murine dentition. In humans, mutations in PAX9 are associated with unique phenotypes of familial tooth agenesis that mainly involve posterior teeth. Among these, a frameshift mutation (219InsG) within the paired domain of PAX9 produces a protein product associated with a severe form of molar agenesis in a...

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Identifiers

PMID: 14607846
DOI: 10.1074/jbc.M305648200

Genes

PAX9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans.PMID 14607846Read ↗

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