TBX6 antibody - N-terminal region (ARP33405_P050)
- Known as:
- TBX6 (anti-) - N-terminal region (ARP33405_P050)
- Catalog number:
- arp33405_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- TBX6 antibody - N-terminal region (ARP33405_P050)
Related genes to: TBX6 antibody - N-terminal region (ARP33405_P050)
- Gene:
- TBX6 NIH gene
- Name:
- T-box 6
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 16p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1998-08-10
- Date modifiied:
- 2014-11-19
Related products to: TBX6 antibody - N-terminal region (ARP33405_P050)
Related articles to: TBX6 antibody - N-terminal region (ARP33405_P050)
- The developing vertebrate forelimb expresses seven T-box transcription factors, with several in overlapping expression domains. All T-box transcription family members share similarity within their DNA binding domain, the T-domain. Outside of the T-domain, these factors share little similarity, allowing family members to have different transcriptional properties and binding partners. Several human T-box genes show haploinsufficiency in the limb, including Tbx5 and Tbx3 that, when mutated, cause Holt-Oram and ulnar-mammary syndrome, respectively. This dosage sensitivity combined with the shared T-domain leads to our hypothesis that when co-expressed a competition between T-box factors at target genes can occur. To test this, we ectopically expressed two exogenous T-box factors, T and Tbx6, in the developing forelimb mesenchyme to examine how artificially changing the relative levels of T-box proteins affects forelimb formation. Skeletal, apoptotic, and gene expression assays were used to characterize the resulting phenotypes. While ectopic T and Tbx6 both affected the size and shape of the forearm bones and ossification, they differentially affected digit formation: T caused loss of digits and Tbx6 led to phalange bone duplications and extra digit formation. These dissimilar phenotypes suggest that these transcriptional activators differentially affect pathways critical for regulating forelimb development. - Source: PubMed
Denhart Mariah HChapman Deborah L - Sirtuin 1 () is known to regulate stem cell differentiation and cardiomyocyte function, yet its specific role and mechanism in human embryonic stem cell (hESC) differentiation into cardiomyocytes remain unclear. This study aimed to elucidate the functional contribution and molecular pathway of in cardiomyogenesis. : A knockout (/) hESC line was generated using CRISPR-Cas9 technology. The expression of key differentiation markers was analyzed by RT-qPCR at days 6, 8, and 9. The underlying mechanism was investigated through integrated RNA-sequencing (RNA-seq) analysis and dual-luciferase reporter assays. : deletion significantly downregulated the expression of mesodermal (TBX6, KDR), cardiac precursor (NKX2.5, TBX5), and mature cardiomyocyte (cTNT, Hand2) markers. Mechanistically, a competing endogenous RNA (ceRNA) axis, LncRNA XR_951230.1/miR-3663-3p/SMYD1, was identified. knockout reduced XR_951230.1 expression, which consequently elevated miR-3663-3p activity and suppressed its target gene SMYD1. : These findings indicate that is essential for promoting hESC differentiation into cardiomyocytes, potentially via the XR_951230.1/miR-3663-3p/SMYD1 pathway. This study provides new insights into the regulatory network of stem cell-based cardiomyogenesis and suggests potential targets for stem cell-based cardiac disease therapy. - Source: PubMed
Publication date: 2026/02/27
Li ChengyuMahemuti MairepatiMaimaiti YusupujiangWang TingZhang XinJiapaer Zeyidan - Spondylocostal dysostosis (SCDO) is a rare disorder characterized by congenital malformations of the spine and ribs. SCDO affects 1 in 40,000 human births, with rare cases also reported in dogs. Mutations in , encoding a critical Notch signaling pathway ligand, account for a majority of human SCDO cases. The remaining cases have variants in , , , , and , which code for proteins in the Notch pathway. A mixed-breed litter of three dogs presented with varying degrees of spinal malformations and underwent comprehensive phenotyping including radiographic and neurologic examination. Two littermates demonstrated classic SCDO features including shortened torsos, vertebral malformations, and rib abnormalities, while a third showed only caudal vertebral truncation. - Source: PubMed
Publication date: 2026/01/26
Varney ScarlettVernau KarenBrown CraigToedebusch ChristineVo JuliaBannasch Danika - Few nonhuman primates inhabit high-latitude regions that pose significant adaptive challenges. The Tibetan macaque (Macaca thibetana) represents a rare primate species entirely distributed north of the Tropic of Cancer. To investigate the genetic basis underlying its adaptation to high latitudes, we generated a refined Tibetan macaque reference genome (99.41% completeness). Genomic analyses identified a species-specific homozygous mutation (Pro71Thr) in the TBX6 gene, which potentially explains their characteristic shortened tail morphology. Functional validation using CRISPR-Cas9-edited mice demonstrated that this mutation reduces caudal vertebrae count, providing a mechanistic basis for the shortened tail. Quantitative CT revealed that Tibetan macaques accumulated approximately 9.3-fold more abdominal fat than rhesus macaques. Genomic analysis uncovered enhanced lipid metabolic capacity supported by multiple sources of evidence: (1) positive selection on genes associated with lipid storage (DGAT2, DYSF, CAV1), adipogenesis (PRKD1), and appetite regulation (LEPR); (2) a 390-bp deletion in CPE; (3) expansions of gene families on oxidative phosphorylation and gluconeogenesis/glycolysis. These genetic variations may account for the marked differences in adipose tissue gene expression between the two macaque species. The shortened tail and increased fat accumulation represent key adaptations for thermoregulation and energy conservation in high-latitude habitats. Notably, all Tibetan macaque populations experienced long-term selection pressures from cold at high latitudes, which have not only shaped distinctive adaptive traits, but may also render the species particularly vulnerable to contemporary climate warming, particularly for the eastern populations. - Source: PubMed
Publication date: 2026/02/04
Zhang RusongHu YingTeng YangQi JiweiCiren YangzhenZhang LinDu QiaoXu WencaiZhou LiangFan ZhenxinXing JinchuanLi MingLi Jing - Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the congenital absence of the uterus and upper vagina, resulting from failed Müllerian duct development during embryogenesis. Given advancements in reproductive medicine enabling genetic motherhood, this study aims to systematically review published research on the genetic and epigenetic factors contributing to MRKH etiopathogenesis. - Source: PubMed
Publication date: 2026/01/17
Christopoulos PanagiotisTsarna ErmioniPalamouti VasilikiDavouti EfstathiaMakrythanasis PeriklisVlahos Nikolaos F