Qiu GX from Peking Union Hospital made a breakthrough in the research of molecular genetics of scoliosis. He found that TBX6 gene was closely related to scoliosis, and the result was published in The New England Journal of Medicine. 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.