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Heavy ions were obtained from the carbon ion ( 12C 6+) beam of the Deep Therapy Terminal, Institute of Modern Physics, Chinese Academy of Sciences (HIRFL-CSR) (Ray parameters: energy of 100 MeV, the dose rate of 1 Gy/min, broadened Bragg peak of 5mm, radiation field of 5cm × 5cm), for cell irradiation. Irradiation doses were 0, 1, 2, and 4 Gy. The experiment was repeated four times. Medium Transfer Protocol
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Supplementary Material The parent of a child in hospital overnight is a parent or guardian of a child or young person, under 18 years of age, who is admitted as an inpatient at hospital overnight. Basson, C. T., Huang, T., Lin, R. C., Bachinsky, D. R., Weremowicz, S., Vaglio, A., Bruzzone, R., Quadrelli, R., Lerone, M., Romeo, G., Silengo, M., Pereira, A., Krieger, J., Mesquita, S. F., Kamisago, M., Morton, C. C., Pierpont, M. E. M., Muller, C. W., Seidman, J. G., Seidman, C. E.
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Sowden et al. (2001) examined the role of Drosophila 'optomotor blind' (omb)-related T-box genes in the development of human and mouse retina. Murine Tbx2, Tbx3, and Tbx5 and human TBX2 cDNAs were isolated from retina cDNA libraries by hybridization to the Drosophila omb gene. Human and mouse TBX2, TBX3, and TBX5 were expressed asymmetrically across the embryonic neural retina, with highest levels of mRNA within dorsal and peripheral retina. The dorsoventral gradient of TBX2 expression disappeared before the ganglion cell layer (GCL) formed. Its expression became restricted to the inner neuroblastic retina and later to the GCL and inner nuclear layer (INL). The dorsal expression domains of TBX5 and TBX3 were maintained during formation of the GCL. As the retina matured, TBX3 expression was restricted to the INL, and TBX5 was expressed within the GCL. The authors concluded that the expression patterns of TBX2, TBX3, and TBX5 within the developing retina support the idea that the encoded transcription factors play a role in providing positional information important for topographic mapping in differentiation of distinct cell types across the laminar axis of the retina. Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects. Li et al. (1997) pointed out that TBX3 may be a candidate gene for Noonan syndrome (163950) and ulnar-mammary syndrome (UMS; 181450). The latter possibility indeed proved to be the case; Bamshad et al. (1997) demonstrated mutations in TBX3 in 2 families with ulnar-mammary syndrome (602621.0001-602621.0002). Each mutation was predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription factor are required for morphogenesis of several organs. Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5 cause anterior limb abnormalities in Holt-Oram syndrome. Because of similarities in structure and function of TBX3 and TBX5 and because of close linkage, Bamshad et al. (1997) proposed that these genes originated from a common ancestral gene, each having acquired specific complementary roles in patterning the mammalian upper limb.
Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing. Moskowitz, I. P. G., Kim, J. B., Moore, M. L., Wolf, C. M., Peterson, M. A., Shendure, J., Nobrega, M. A., Yokota, Y., Berul, C., Izumo, S., Seidman, J. G., Seidman, C. E. Objective: To analyze the effect of carbon ion ( 12C 6+) radiation may induce bystander effect on A549 cell metastasis and metabonomics. Glauser et al. (1989) described a family in which the father had atrial septal defect and a hypoplastic thumb, and a son had triphalangeal thumb and syndactyly of digits 1 and 2 on the left with aplasia of the right thumb, and hypoplastic left heart syndrome with large atrial septal defect, coarctation of the aorta, patent ductus arteriosus (PDA), severe aortic stenosis, small left ventricle, and pulmonary hypertension. An older sister of this son had atrial septal defect but no clinically or radiologically apparent abnormalities of the upper limbs.
Author Contributions
In a Czech mother and 2 daughters who were diagnosed with Holt-Oram syndrome, Borozdin et al. (2006) identified a 2.19 to 2.27-Mb contiguous deletion encompassing the TBX5 and TBX3 genes. Clinical reexamination confirmed the presence of features of ulnar-mammary syndrome that were previously unrecognized. Borozdin et al. (2006) noted that the contiguous deletion also included the RBM19 gene ( 616444), but commented that it was unlikely to contribute to or modify the phenotype since all the anomalies present in the affected individuals could be explained by either TBX5 or TBX3 haploinsufficiency.
In 3 members of a family with ulnar-mammary syndrome, Meneghini et al. (2006) identified a single-basepair insertion (601621.0007) in exon 6 of the TBX3 gene, resulting in a frameshift and premature stop codon. This mutation was downstream of the T-box DNA-binding domain and thus did not disrupt or alter the T-domain. The authors reviewed the data on previously reported variants and hypothesized a genotype-phenotype correlation, with mutations that disrupt the T-box DNA-binding domain associated with a more severe phenotype. Conception and design: ZY, XW, and QZ. Administrative support: XW, HL, and QZ. Experiment operation: HL, ZY, LS, YK, RL, XZ, YG, and CL. Data analysis and interpretation: HL, QZ, ZY, and LS. Manuscript writing: all authors. Final approval of manuscript: all authors. All authors contributed to the article and approved the submitted version. FundingTo understand better the role of TBX5 in forelimb and heart development, Basson et al. (1999) studied the clinical features of Holt-Oram syndrome caused by 10 different TBX5 mutations. Defects predicted to create null alleles caused substantial abnormalities in both limb and heart. In contrast, missense mutations produced distinct phenotypes: gly80-to-arg ( 601620.0004) caused significant cardiac malformations but only minor skeletal abnormalities, whereas arg237-to-gln ( 601620.0003) and arg237-to-trp ( 601620.0005) caused extensive upper limb malformations but less significant cardiac abnormalities. Amino acids altered by missense mutations were located on the 3-dimensional structure of a related T-box transcription factor, Xbra (of X. laevis), bound to DNA. Residue 80 is highly conserved within T-box sequences that interact with the major groove of target DNA; residue 237 is located in the T-box domain that selectively binds to the minor groove of DNA. These structural data, taken together with the predominant cardiac or skeletal phenotype produced by each missense mutation, suggested that organ-specific gene activation by TBX5 is predicated on biophysical interactions with different target DNA sequences. Using SSCP analysis and direct sequencing of amplified products, Li et al. (1997) showed that the TBX5 gene was mutated in cases of familial and sporadic Holt-Oram syndrome (HOS; 142900) (see, e.g., 601620.0001). Borozdin, W., Bravo-Ferrer Acosta, A. M., Seemanova, E., Leipoldt, M., Bamshad, M. J., Unger, S., Kohlhase, J. In a Czech mother and 2 daughters diagnosed with Holt-Oram syndrome, Borozdin et al. (2006) identified a 2.19 to 2.27-Mb contiguous deletion encompassing the TBX5 and TBX3 genes. Clinical reexamination confirmed the presence of features of ulnar-mammary syndrome that were previously unrecognized. Borozdin et al. (2006) noted that the contiguous deletion also included the RBM19 gene ( 616444), but commented that it was unlikely to contribute to or modify the phenotype since all the anomalies present in the affected individuals could be explained by either TBX5 or TBX3 haploinsufficiency. Hiroi et al. (2001) found that TBX5 associates with NKX2-5 (600584) and synergistically promotes cardiomyocyte differentiation. Both directly bind to the promoter of the gene encoding cardiac-specific natriuretic peptide precursor type A (NPPA; 108780) in tandem, and the 2 transcription factors show synergistic activation. P19CL6 cells efficiently differentiate into beating cardiomyocytes expressing cardiac-specific genes after treatment with 1% dimethyl sulfoxide (DMSO). Hiroi et al. (2001) found that P19CL6 cell lines overexpressing wildtype Tbx5 started to beat earlier and expressed cardiac-specific genes more abundantly than did parental P19CL6 cells, whereas cell lines expressing the G80R mutation (601620.0004), which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not differentiate into beating cardiomyocytes. Contrariwise, the R237Q mutation (601620.0003), which causes upper limb malformations without cardiac abnormalities, activated the Nppa promoter to an extent similar to that of wildtype TBX5.
Basson et al. (1999) identified heterozygous mutations in the TBX5 gene in affected members of several families segregating HOS (see, e.g., 601620.0002- 601620.0005). Tanteles, G. A., Nicolaou, N., Syrimis, A., Metaxa, R., Nicolaou, M., Christophidou-Anastasiadou, V., Skordis, N.In a 10-year-old girl with isolated bilateral dorsalization of her fifth fingers and slightly deep fourth web spaces, Al-Qattan et al. (2020) identified a de novo heterozygous 2-basepair duplication in the TBX3 gene (601621.0008), resulting in frameshift and premature termination of the protein. The authors suggested that these clinical findings should be considered a forme fruste phenotype of ulnar-mammary syndrome. Niwa et al. (2009) showed that 2 LIF (159540) signaling pathways are each connected to the core circuitry required to maintain pluripotency via different transcription factors. In mouse embryonic stem cells, Klf4 (602253) is mainly activated by the Jak-Stat3 pathway and preferentially activates Sox2 (184429), whereas Tbx3 is preferentially regulated by the phosphatidylinositol-3-OH kinase-Akt and mitogen-activated protein kinase pathways and predominantly stimulates Nanog (607937). In the absence of Lif, artificial expression of Klf4 or Tbx3 was sufficient to maintain pluripotency while maintaining the expression of Oct3/4 (164177). Notably, overexpression of Nanog supported Lif-independent self-renewal of mouse embryonic stem cells in the absence of Klf4 and Tbx3 activity. Therefore, Niwa et al. (2009) concluded that KLF4 and TBX3 are involved in mediating LIF signaling to the core circuitry but are not directly associated with the maintenance of pluripotency, because embryonic stem cells keep pluripotency without their expression in the particular context. BlueTooth Heading Sensor detects changes in the boats Heading due to wind and current and communicated to the-iPilot system, to minimise boat swing for a more accurate stronger hold (requires separate power supply)
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