TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases
0.010 Biomarker group BEFREE Fetal intelligent navigation echocardiography applied to STIC volume data sets of fetuses with d-TGA successfully generated the 3 specific abnormal cardiac views in the following manner for 2 observers: 75.0% (n = 21) for the left ventricular outflow tract, 89.2% (n = 25) for the right ventricular outflow tract, and 85.7% (n = 24) for the 3-vessel and trachea view. 31675129 2020
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
0.010 Biomarker disease BEFREE TBX1 is required for normal stria vascularis and semicircular canal development. 31550482 2020
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.010 Biomarker disease BEFREE Recently, we reported that the ventral longitudinal musculature of the adult <i>Drosophila</i> heart arises in vivo by direct lineage reprogramming from larval alary muscles, a process that starts with the dedifferentiation and fragmentation of syncytial muscle cells into mononucleate myoblasts and depends on Org-1 (<i>Drosophila</i> Tbx1). 31591186 2019
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
0.010 Biomarker disease BEFREE In conclusion the TGA/Chemometric test proved to be a promising tool for the screening of the hemoglobin defects, in a short time and at low cost, of this case of congenital hemolytic anemia of difficult diagnosis. 31632985 2019
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 PosttranslationalModification disease BEFREE This study demonstrates that TBX1 is frequently downregulated by promoter methylation in both papillary thyroid cancers and thyroid cancer cell lines. 30543152 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 Biomarker disease BEFREE Histologic analysis revealed peculiar alterations in thymic medulla size and maturation in DGS and DS patients. 30949166 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 Biomarker disease BEFREE We found that loss of TBX1 impairs extracellular matrix (ECM)-integrin-focal adhesion (FA) signaling in both models. 31180501 2019
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency
0.010 Biomarker disease BEFREE Taken together, our findings highlight the effect of FA on FGF pathways during neurogenesis, and the mechanism may be due to the low expression of Brachyury gene via hypermethylation under FA-insufficient conditions.-Chang, S., Lu, X., Wang, S., Wang, Z., Huo, J., Huang, J., Shangguan, S., Li, S., Zou, J., Bao, Y., Guo, J., Wang, F., Niu, B., Zhang, T., Qiu, Z., Wu, J., Wang, L. The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects. 30592646 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.010 Biomarker disease BEFREE Serum FGF21 was positively and significantly correlated to the expression of UCP1 (<i>r</i> = 0.56, <i>p</i> = 0.02) and TBX1 (<i>r</i> = 0.62, <i>p</i> = 0.01), however, this correlation was missing in patients with severe obesity. 31572455 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 AlteredExpression disease BEFREE Nanoparticles were prepared by desolvation method and physico-chemically characterized (FT-IR, DSC, TGA, SEM, size distribution and drug release); empty and drug loaded nanoparticles were tested for their ROS-scavenging activity, hemolytic properties, cytotoxicity, and anti-inflammatory potency in an OA in vitro model. 30772432 2019
CUI: C0030193
Disease: Pain
Pain
0.010 Biomarker phenotype BEFREE The primary composite endpoint was defined as: reduction in VCF fracture-related pain at 12 months from baseline and maintenance or functional improvement (ODI) at 12 months from baseline, and absence of device-related adverse event or surgical reintervention. 31325625 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.010 AlteredExpression disease BEFREE Furthermore, brachyury levels were significantly increased in skin samples of SSc patients relative to healthy controls. 31625918 2019
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
0.010 Biomarker group BEFREE TBX1 has been reported to be downregulated in mouse skin tumors and is considered a negative regulator of tumor cell growth in mice. 30543152 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.010 PosttranslationalModification disease BEFREE This study demonstrates that TBX1 is frequently downregulated by promoter methylation in both papillary thyroid cancers and thyroid cancer cell lines. 30543152 2019
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 AlteredExpression phenotype BEFREE Together, these data demonstrate small-molecule targeting of brachyury transcription factor addiction in chordoma, identify a mechanism of T gene regulation that underlies this therapeutic strategy, and provide a blueprint for applying systematic genetic and chemical screening approaches to discover vulnerabilities in genomically quiet cancers. 30664779 2019
Secondary malignant neoplasm of bone
0.010 Biomarker disease BEFREE In our study, in vitro and in vivo assays demonstrated that Brachyury (Bry) could promote breast cancer BM. 31713604 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 PosttranslationalModification disease BEFREE This study demonstrates that TBX1 is frequently downregulated by promoter methylation in both papillary thyroid cancers and thyroid cancer cell lines. 30543152 2019
CUI: C0392485
Disease: Congenital diverticulum of pharynx
Congenital diverticulum of pharynx
0.010 Biomarker disease BEFREE Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome. 31412026 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.010 PosttranslationalModification disease BEFREE This study demonstrates that TBX1 is frequently downregulated by promoter methylation in both papillary thyroid cancers and thyroid cancer cell lines. 30543152 2019
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
0.010 Biomarker disease BEFREE We found that loss of TBX1 impairs extracellular matrix (ECM)-integrin-focal adhesion (FA) signaling in both models. 31180501 2019
Idiopathic pulmonary arterial hypertension
0.010 Biomarker disease BEFREE The pathogenic mechanisms of PAH in patients with repaired D-TGA are not well understood and treatment is not standardized. 28597760 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.010 Biomarker disease BEFREE We found that loss of TBX1 impairs extracellular matrix (ECM)-integrin-focal adhesion (FA) signaling in both models. 31180501 2019
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
0.010 Biomarker disease BEFREE The average PL lifetime of TGA and MPA capped QDs is similar (≈20 ns) while in the case of MPS shorter (≈15 ns) and for MES significantly longer (≈30 ns) values are measured. 31171820 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker disease BEFREE Histologic analysis revealed peculiar alterations in thymic medulla size and maturation in DGS and DS patients. 30949166 2019
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
0.010 Biomarker disease BEFREE Furthermore, retinoic acid (RA) signaling is required for Tbx5 activation in Tbx1-positive cells and blocking RA signaling at the time of Tbx5 activation results in atrioventricular septal defects at fetal stages. 30016433 2018