anti-T-Box 4 (TBX4) Anticorps

Human T-Box 4 (TBX4) interaction partners

1. In seven families we foundTBX4anomalies predictedto cause loss-of-function or haploinsufficiency, confirming the clinicaldiagnosis of Small patella syndrome

2. The results suggested that rs6557421 variant in Nox3 and rs3744439 variant in Tbx4 might have potential effect on individual susceptibility to pulmonary hypertension.

3. highlights the importance of T-box transcription factors, especially TBX4, and super-enhancers in the roles of lung fibroblasts in pulmonary physiology and pathogenesis

4. 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.

5. TBX4 is a mesenchymal transcription factor that drives accumulation of myofibroblasts and the development of lung fibrosis

6. 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.

7. 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.

8. Although TBX4 remains the candidate gene for congenital clubfoot involving 17q23.1-q23.2 duplications, the explanation for variable expressivity and penetrance remains unknown.

9. 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

10. 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.

11. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.

12. Mutations in the human TBX4 gene cause small patella syndrome

Mouse (Murine) T-Box 4 (TBX4) interaction partners

1. TBX4 is a mesenchymal transcription factor that drives accumulation of myofibroblasts and the development of lung fibrosis

2. These data extend our understanding of the role and regulation of Tbx4 and Shox2 in limb development and limb associated diseases.

3. Although postnatal deletion of Tbx4 in oocytes does not obviously impair fertility, it is possible that the reduction in primordial germ cells observed in Tbx4 homozygous null mutant embryos could affect long-term fertility in adults.

4. Candidate gene approach identifies multiple genes and signaling pathways downstream of Tbx4 in the developing allantois

5. Mice deficient in Tbx4 and Tbx5 show severely reduced lung branching at mid-gestation.

6. Tbx4 expression and lineage reveal that various distinct appendages, such as the allantois, hindlimb, and external genitalia, all arise from a single mesenchymal expression domain.

7. It was shown that, firstly, Pitx1 influences hindlimb outgrowth by regulating Tbx4 expression levels and that, subsequently,Pitx1 shapes hindlimb bone and soft tissue morphology independently of Tbx4.

8. Study find that Tbx4 is the primary effector of HL identity for both skeletal and muscle development.

9. Tbx4 is reported to play a key role in separation of the respiratory tract and the esophagus.

10. Deletion of Tbx4 in hindlimbs specifically affects muscle and tendon patterning without disrupting skeletal development, thus suggesting that distinct cues regulate these processes.

11. show that AmphiTbx4/5 is able to initiate limb outgrowth and, in contrast, that the genomic locus lacks the regulatory modules required for expression that would result in limb formation

12. Tbx4 is not sufficient to determine limb-specific morphologies but have a roles in initiating limb outgrowth.

13. Tbx4 is not required for hindlimb identity or post-bud hindlimb outgrowth.

14. dual hindlimb enhancers provide a flexible genomic mechanism for altering the strength and location of Tbx4 expression during normal development