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TBX6 is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. Additionally we are shipping T-Box 6 Antibodies (72) and T-Box 6 Proteins (4) and many more products for this protein.
One patient with extensive SDV was carrying a proximal 16p11.2 microdeletion associated with a TBX6 rare missense change. One patient with a clinical diagnosis of SCD (show SCD ELISA Kits) was compound heterozygous for two TBX6 rare missense changes. The three rare variants were affecting the chromatin-binding domain. Our data illustrate the variable expressivity of recessive TBX6 ranging from congenital scoliosis to spondylocostal dysostos.
Although all Chinese patients had one or more hemivertebrae, two Japanese patients did not have hemivertebra. The compound heterozygosity of null mutations and the common risk haplotype in TBX6 also causes CS in Japanese patients with similar incidence. Hemivertebra was not a specific type of spinal malformation in TBX6-associated CS (TACS).
Mutations of RBM8A (show RBM8A ELISA Kits) and TBX6 are associated with disorders of the mullerian ducts.
Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed.
Data have identified TBX6 as a new gene associated with Mullerian aplasia. The results also support the relevance of LHX1 (show LHX1 ELISA Kits) and CNVs in the development of this congenital malformation.
we have used exome capture and next-generation sequencing to identify a stoploss mutation in TBX6 that segregates with disease in two generations of one family.
first report on single nucleotide polymorphisms of TBX6 gene in congenital scoliosis (CS) that suggests genetic variants of TBX6 gene is associated with CS in the Chinese Han population.
Tbx18 (show TBX18 ELISA Kits) interacts with Gata4 (show GATA4 ELISA Kits) and Nkx2-5 (show NKX2-5 ELISA Kits) and competes Tbx5 (show TBX5 ELISA Kits)-mediated activation of the cardiac Natriuretic peptide precursor type a-promoter. Tbx18 (show TBX18 ELISA Kits) down-regulates Tbx6-activated Delta-like 1 (show DLL1 ELISA Kits) expression in the somitic mesoderm in vivo
This study emphasizes the function of Tbx6 as a bistable switch that turns mesoderm fate 'on' and progenitor state 'off', and thus has implications for the molecular mechanism driving neuromesoderm progenitors fate choice.
Segmental border is defined by Ripply2-mediated Tbx6 repression independent of Mesp2 (show Mesp2 ELISA Kits).
Tbx6 and the Wnt (show WNT2 ELISA Kits) pathway cooperatively regulate proper Hes7 (show HES7 ELISA Kits) expression.
Tbx6 is required for cardiac myocyte differentiation and represses neural differentiation in the P19CL6 model.
Tbx6 acts in the mesoderm where it has a dual function. It promotes differentiation of cells into paraxial mesoderm, and it suppresses neural cell fate specification by repressing Sox2 (show SOX2 ELISA Kits).
Tbx6 represses Sox2 (show SOX2 ELISA Kits) by inactivating enhancer N1 to inhibit neural development, and this is an essential step for the specification of paraxial mesoderm from the axial stem cells.
determined the phenotypic and molecular consequences of ectopically expressing Tbx6 within the segmented paraxial mesoderm and its derivatives using a 3-component transgenic system
Data show that partial restoration of Tbx6 expression in null mutants rescues somite development, and that Tbx6 activity in the paraxial mesoderm is also required for their normal patterning.
Contol of Tbx6 gene expression during development.
uncovered four putative Tbx6 binding sites within a delta-like 1 (show DLL1 ELISA Kits) paraxial mesoderm enhancer
Tbx6 is required for neural crest and intermediate mesoderm development in Xenopus
several signaling pathways are involved in regulating Tbx6 expression in the initiation of myogenesis
FGF8 (show FGF8 ELISA Kits), Wnt8 (show WNT8A ELISA Kits) and Myf5 (show MYF5 ELISA Kits) are target genes of Tbx6 during anteroposterior specification in Xenopus embryo
Data show that morpholino-induced knockdown of Xenopus Tbx6 impairs posterior development, indicating the requirement of XTbx6 in this process.
Based on our findings, we conclude that a part of the transcriptional repression at the anterior end of the PSM (show SH2B1 ELISA Kits) is caused by Bowline mediated transcriptional repression of Tbx6-dependent gene expression in X. laevis.
Tbx6, thylacine 1, and E47 synergistically activate bowline expression in Xenopus somitogenesis.
These results indicate that the appropriate expression of bowline/Ripply2 is regulated by a direct interaction between the Tbx6 and mespb proteins during Xenopus somitogenesis.
Xtbx6 is a direct regulator of pMesogenin1 and 2, which are both involved in somitogenesis and myogenesis including that of body wall muscle in Xenopus laevis
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures.
, T-box protein 6
, T-box transcription factor TBX6