TBX6 Antibody

1. TBX6 plays a role during human spine development and interacts with other key elements during the process of somitogenesis [review] PMID: 27437870
2. 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 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. PMID: 27861764
3. 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). PMID: 28054739
4. Mutations of RBM8A and TBX6 are associated with disorders of the mullerian ducts. PMID: 25813282
5. 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. PMID: 25564734
6. Data have identified TBX6 as a new gene associated with Mullerian aplasia. The results also support the relevance of LHX1 and CNVs in the development of this congenital malformation. PMID: 23954021
7. 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. PMID: 23335591
8. 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. PMID: 20228709

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HGNC: 11605

OMIM: 122600

KEGG: hsa:6911

STRING: 9606.ENSP00000279386

UniGene: Hs.198301