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Article

Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome.

PloS one - 1 Jan 2013

Frank Deborah U, Emechebe Uchenna, Thomas Kirk R, Moon Anne M

Abstract excerpt

The transcription factor TBX3 plays critical roles in development and TBX3 mutations in humans cause Ulnar-mammary syndrome. Efforts to understand how altered TBX3 dosage and function disrupt the development of numerous structures have been hampered by embryonic lethality of mice bearing presumed null alleles. We generated a novel conditional null allele of Tbx3: after Cre-mediated recombination, no mRNA or...

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Identifiers

PMID: 23844108
DOI: 10.1371/journal.pone.0067841
PMCID: PMC3699485

Genes

TBX3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome.PMID 23844108Read ↗

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The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.Semantic proximity Read ↗

Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects.Semantic proximity Read ↗

TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.Semantic proximity Read ↗

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.Semantic proximity Read ↗

A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome.Semantic proximity Read ↗

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Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

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