TBX6

TBX6

A gene on chromosome 16p11.2 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development; TBX6 plays a role in specification of  paraxial mesoderm structures.
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Qiu GX from Peking Union Hospital made a breakthrough in the research of molecular genetics of scoliosis.[3] He found that TBX6 gene was closely related to scoliosis, and the result was published in The New England Journal of Medicine.[3] The core idea of 'a closed loop regional trauma treatment system focusing on synthetical hospitals' proposed by Prof.
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
In a new study, a research team, including experts from the University of Tsukuba, screened over 50 transcription factors and found that Tbx6 alone was able to stimulate mesoderm formation in laboratory-grown stem cells, and could cause those stem cells to become cardiovascular or musculoskeletal cells.
Tbx6 was already known to be active in formation of musculoskeletal tissue--Tbx6 mutant mice produce ectopic neural tubes at the expense of musculoskeletal tissue--but its expression and function in early/nascent mesoderm and mesodermal derivatives, including cardiovascular lineages, have been largely unknown.
CHIR99021 significantly enhances the expression of mesoderm genes such as T, TBX6, and MSGN1 in human PSCs [54, 55, 65], indicating that this selective GSK3[beta] inhibitor can promote mesoderm differentiation.
First, the respective genetic screen identified mutations in seven genes that could be closely linked to the development of human external genitalia: BMP4, CFAP53, DNAH5, IFT172, KMT2C, SOX6, and TBX6 (Table 1).
Papaioannou, "Tbx6 regulates left/right patterning in mouse embryos through effects on nodal cilia and perinodal signaling," PLoS ONE, vol.
Xiao et al., "TBX6 null variants and a common hypomorphic allele in congenital scoliosis," The New England Journal of Medicine, vol.
(1999) An ascidian T-box gene As-T2 is related to the Tbx6 subfamily and is associated with embryonic muscle cell differentiation.
(2009) Spatio-temporal intersection of Lhx3 and Tbx6 defines the cardiac field through synergistic activation of Mesp.
Papaioannou, "Three neural tubes in mouse embryos with mutations in T-box gene Tbx6," Nature, vol.
As for congenital scoliosis, TBX6 deletion associated with high-risk alleles was reported in 2015, which was exerted a huge impact at home and abroad.[16]