| In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS. | In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.
Almakhari M, Chen Y, Kong AS, Moradigaravand D, Lai KS, Lim SE, Loh JY, Maran S., Free PMC Article | 07/10/2024 |
| A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens. | A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.
Funato N, Heliövaara A, Boeckx C., Free PMC Article | 05/7/2024 |
| Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia. | Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia.
Nagel S, Haake J, Pommerenke C, Meyer C, MacLeod RAF., Free PMC Article | 01/16/2024 |
| Conserved enhancers control notochord expression of vertebrate Brachyury. | Conserved enhancers control notochord expression of vertebrate Brachyury.
Kemmler CL, Smolikova J, Moran HR, Mannion BJ, Knapp D, Lim F, Czarkwiani A, Hermosilla Aguayo V, Rapp V, Fitch OE, Bötschi S, Selleri L, Farley E, Braasch I, Yun M, Visel A, Osterwalder M, Mosimann C, Kozmik Z, Burger A., Free PMC Article | 10/30/2023 |
| Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus. | Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.
Wu Y, Xia Y, Yue C, Xin T, Wang Q, Zhang H, Shen C, Shen M, Gu Y, Shen J. | 06/12/2023 |
| SNP-mediated binding of TBX1 to the enhancer element of IL-10 reduces the risk of Behcet's disease. | SNP-mediated binding of TBX1 to the enhancer element of IL-10 reduces the risk of Behçet's disease.
Tan H, Su G, Tan X, Qin Y, Chen L, Yuan G, Kijlstra A, Yang P. | 03/26/2022 |
| TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression. | TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression.
Huang S, Shu X, Ping J, Wu J, Wang J, Shidal C, Guo X, Bauer JA, Long J, Shu XO, Zheng W, Cai Q., Free PMC Article | 03/12/2022 |
| Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection. | Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection.
Chitty-Lopez M, Duff C, Vaughn G, Trotter J, Monforte H, Lindsay D, Haddad E, Keller MD, Oshrine BR, Leiding JW., Free PMC Article | 02/26/2022 |
| Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study. | Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study.
Deshpande DR, Demirdag YY, Marsh RA, Sullivan KE, Orange JS, USIDNET Consortium. | 01/15/2022 |
| T-box transcription factor TBX1, targeted by microRNA-6727-5p, inhibits cell growth and enhances cisplatin chemosensitivity of cervical cancer cells through AKT and MAPK pathways. | T-box transcription factor TBX1, targeted by microRNA-6727-5p, inhibits cell growth and enhances cisplatin chemosensitivity of cervical cancer cells through AKT and MAPK pathways.
Liu H, Song M, Sun X, Zhang X, Miao H, Wang Y., Free PMC Article | 11/13/2021 |
| Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation. | Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.
Jiang X, Li T, Liu S, Fu Q, Li F, Chen S, Sun K, Xu R, Xu Y., Free PMC Article | 09/18/2021 |
| Genetic Variant of TBX1 Gene Is Functionally Associated With Adolescent Idiopathic Scoliosis in the Chinese Population. | Genetic Variant of TBX1 Gene Is Functionally Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.
Li Y, Wu Z, Xu L, Feng Z, Wang Y, Dai Z, Liu Z, Sun X, Qiu Y, Zhu Z. | 05/15/2021 |
| MicroRNA3651 promotes colorectal cancer cell proliferation through directly repressing Tbox transcription factor 1. | MicroRNA‑3651 promotes colorectal cancer cell proliferation through directly repressing T‑box transcription factor 1.
Li C, Ding D, Gao Y, Li Y. | 12/5/2020 |
| Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene. | Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene.
Han S, Zhang YY, Meng MY, Hou ZL, Meng P, Zhao YY, Gao H, Tang J, Liu Z, Yang LL, Jiang LH, Li YX. | 12/5/2020 |
| Transactivation of SOX5 by Brachyury promotes breast cancer bone metastasis. | Transactivation of SOX5 by Brachyury promotes breast cancer bone metastasis.
Chen M, Zou S, He C, Zhou J, Li S, Shen M, Cheng R, Wang D, Zou T, Yan X, Huang Y, Shen J., Free PMC Article | 10/31/2020 |
| TBX1 and Basal Cell Carcinoma: Expression and Interactions with Gli2 and Dvl2 Signaling. | TBX1 and Basal Cell Carcinoma: Expression and Interactions with Gli2 and Dvl2 Signaling.
Caprio C, Varricchio S, Bilio M, Feo F, Ferrentino R, Russo D, Staibano S, Alfano D, Missero C, Ilardi G, Baldini A., Free PMC Article | 10/24/2020 |
| TBX1 is frequently inactivated by promoter methylation and functions as a potential tumor suppressor in thyroid cancer through inhibiting the activities of the PI3K/AKT and MAPK/ERK signaling pathways | TBX1 Functions as a Tumor Suppressor in Thyroid Cancer Through Inhibiting the Activities of the PI3K/AKT and MAPK/ERK Pathways.
Wang N, Li Y, Wei J, Pu J, Liu R, Yang Q, Guan H, Shi B, Hou P, Ji M. | 02/29/2020 |
| We identified rare damaging variants in four genes known to be mutated in syndromic lip and/or cleft palate (syCL/P) : TP63 (one family), TBX1 (one family), LRP6 (one family) and GRHL3 (two families), and clinical reassessment confirmed the isolated nature of their lip and/or cleft palate (CL/P). | Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M. | 10/5/2019 |
| Study of dominantly transmitted isolated hypoparathyroidism in two multigenerational families with 14 affected family members revealed two splice-altering mutations in TBX1(c.1009+1G>C and c.1009+2T>C) leading to skipping of exon 8. TBX1 splice-altering mutations can have incomplete penetrance and variable expressivity, and are the bases for hypoparathyroidism in patients with the common 22q11 deletion syndrome. | Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.
Li D, Gordon CT, Oufadem M, Amiel J, Kanwar HS, Bakay M, Wang T, Hakonarson H, Levine MA., Free PMC Article | 09/14/2019 |
| a mutation, c.303-305delGAA, located in the third exon of TBX1 that does not disrupt TBX1 mRNA expression or DNA binding activity, but results in decreased TBX1 protein levels and transcriptional activity. | A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
Xu Y, Fang S, Zhang E, Pu T, Cao R, Fu Q, Li F, Chen S, Sun K, Xu R., Free PMC Article | 11/10/2018 |
| The screening of TBX1 coding sequence identified a novel missense mutation c.569C>A (p.P190Q) in six unrelated patients with syndromic congenital heart defects. | A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H. | 10/13/2018 |
| PCR and western blotting demonstrated that TBX1 expression may be associated with congenital heart disease. | Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease.
Guo B, Xiao J, Li L, Wang S, Wang L, Liu S. | 09/22/2018 |
| Studied expression, function, and regulation of T-box transcription factor (TBX1), in human parathyroid adult normal and tumor tissues. | Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors.
Verdelli C, Avagliano L, Guarnieri V, Cetani F, Ferrero S, Vicentini L, Beretta E, Scillitani A, Creo P, Bulfamante GP, Vaira V, Corbetta S. | 12/16/2017 |
| A genome wide are study to identify acute kidney injury risk in critically ill patients identified a locus on chromosome 22 found 140kb upstream of TBX1, and may affect pathways that contribute to AKI pathophysiology. | A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms for Acute Kidney Injury.
Zhao B, Lu Q, Cheng Y, Belcher JM, Siew ED, Leaf DE, Body SC, Fox AA, Waikar SS, Collard CD, Thiessen-Philbrook H, Ikizler TA, Ware LB, Edelstein CL, Garg AX, Choi M, Schaub JA, Zhao H, Lifton RP, Parikh CR, TRIBE-AKI Consortium *., Free PMC Article | 08/12/2017 |
| The results clearly suggest a possible etiologic association between the TBX1 deletion and Tetralogy of Fallot. | Identification of Copy Number Variations in Isolated Tetralogy of Fallot.
Aguayo-Gómez A, Arteaga-Vázquez J, Svyryd Y, Calderón-Colmenero J, Zamora-González C, Vargas-Alarcón G, Mutchinick OM. | 09/10/2016 |