TBX4 Antibody

1. We propose phenotypic expansion of the TBX4-related clinical disease spectrum to include acinar dysplasia of the lungs. The reported mutation is the first identified genetic variant causative for acinar dysplasia. PMID: 27374786
2. TBX4 is a mesenchymal transcription factor that drives accumulation of myofibroblasts and the development of lung fibrosis PMID: 27400124
3. In a cohort with idiopathic or hereditary pulmonary arterial hypertension, a possibly associated mutation was found in 11.10% of the idiopathic cases (n = 16) and in 68.18% of the hereditary cases. There were 4 mutations found in TBX4. PMID: 27453251
4. a low level of TBX4 expression suggests a worse prognosis for patients with stage II PDAC. Down-regulation of the TBX4 gene in pancreas is less likely to be regulated by DNA methylation. PMID: 21954337
5. Although TBX4 remains the candidate gene for congenital clubfoot involving 17q23.1-q23.2 duplications, the explanation for variable expressivity and penetrance remains unknown. PMID: 24592505
6. data indicate that TBX4 mutations are associated with childhood-onset pulmonary arterial hypertension (PAH), but the prevalence of PAH in adult TBX4 mutation carriers is low PMID: 23592887
7. Minimal evidence was found for an association between TBX4 and clubfoot and no pathogenic sequence variants were identified in the two known TBX4 hindlimb enhancer elements. PMID: 22678995
8. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension. PMID: 21271665
9. Mutations in the human TBX4 gene cause small patella syndrome PMID: 15106123

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HGNC: 11603

OMIM: 147891

KEGG: hsa:9496

STRING: 9606.ENSP00000240335

UniGene: Hs.143907