TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53.

doi:10.1007/s00441-006-0364-4

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Article

TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53.

Cell and tissue research - 1 May 2007

Platonova Natalia, Scotti Maddalena, Babich Polina, Bertoli Gloria, Mento Elena, Meneghini Vasco, Egeo Aliana, Zucchi Ileana, Merlo Giorgio R

Abstract excerpt

TBX3, the gene mutated in ulnar-mammary syndrome (UMS), is involved in the production of a transcription factor of the T-box family, known to inhibit transcription from the p14ARF (p19ARF in mouse) promoter in fibroblasts and to contribute to cell immortalization. One of the main features of the UMS phenotype is the severe hypoplasia of the breast, associated with haploinsufficiency of the TBX3 gene product. In...

Topics

Abnormalities, Multiple
Animals
Apoptosis
COS Cells
Cell Cycle Proteins
Cell Differentiation
Cell Line
Chlorocebus aethiops
Cyclin-Dependent Kinase Inhibitor p16
Down-Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Epithelial Cells

Gene Deletion

Gene Expression Regulation

Humans

Mammary Glands, Animal

Mice

Mutation

Promoter Regions, Genetic

Source

Open in PubMed

Identifiers

PMID: 17265068
DOI: 10.1007/s00441-006-0364-4

Genes

TBX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-17265068-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53.PMID 17265068Read ↗

Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway.Semantic proximity Read ↗

Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation.Semantic proximity Read ↗

TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.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 ↗

Tbx3 controls the fate of hepatic progenitor cells in liver development by suppressing <i>p19ARF</i> expressionSemantic proximity Read ↗

Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome.Semantic proximity Read ↗

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

The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development.Semantic proximity Read ↗

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.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 ↗

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