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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

T-box 6

Tbx6, T-box transcription factor Tbx6
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008] (from NCBI)
Top mentioned proteins: CAN, Brachyury, HAD, ACID, Mesp2
Papers on Tbx6
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
New
Ledig et al., Münster, Germany. In Clin Genet, Dec 2015
In previous studies, two of the patients with a WNT9B mutation were found to carry either an additional deletion of LHX1 or a missense mutation in TBX6.
Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis.
New
Miller et al., Aurora, United States. In Spine Deform, Jul 2015
STUDY DESIGN: A hypothesis-driven study was conducted in a familial cohort to determine the potential association between variants within the TBX6 gene and Familial Idiopathic Scoliosis (FIS).
Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.
New
Ledig et al., Münster, Germany. In Fertil Steril, May 2015
INTERVENTION(S): Sequential analysis of RBM8A and TBX6 in a group of 167 clinically well-defined patients with disorders of the müllerian ducts.
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
New
Duncan et al., Australia. In Hum Mol Genet, Apr 2015
In humans, mutations in several genes involved in the Notch pathway are associated with SDV, with both autosomal recessive (MESP2, DLL3, LFNG, HES7) and autosomal dominant (TBX6) inheritance.
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
New
Impact
Zhang et al., Aş Şanamayn, Syria. In N Engl J Med, Feb 2015
RESULTS: We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P<3.8×10(-6)).
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
Wade et al., Sydney, Australia. In Plos One, 2014
Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect.
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.
Mashimo et al., Isehara, Japan. In Plos One, 2014
Subsequently, a miss-sense mutation in the Tbx6 gene was identified in the critical region.
Derivation and expansion of PAX7-positive muscle progenitors from human and mouse embryonic stem cells.
Skerjanc et al., Ottawa, Canada. In Stem Cell Reports, 2014
CHIR99021 enhanced transcript levels of the pan-mesoderm gene T and paraxial-mesoderm genes MSGN1 and TBX6; immunofluorescence confirmed that 91% ± 6% of cells expressed T immediately following treatment.
A novel gain-of-function mutation of the proneural IRX1 and IRX2 genes disrupts axis elongation in the Araucana rumpless chicken.
Chapman et al., Knoxville, United States. In Plos One, 2013
Expression analysis of BRA and TBX6, required for specification of mesoderm, shows that both are downregulated, whereas SOX2, required for neural patterning, is expressed in ectopic epithelial tissue.
Tbx protein level critical for clock-mediated somite positioning is regulated through interaction between Tbx and Ripply.
Takada et al., Okazaki, Japan. In Plos One, 2013
Previous studies with mouse embryos revealed that the presumptive somite boundary is periodically created at the anterior border of the expression domain of Tbx6 protein.
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Dunwoodie et al., Sydney, Australia. In Hum Mol Genet, 2013
Here, 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.
Evolution of the tbx6/16 subfamily genes in vertebrates: insights from zebrafish.
Kim et al., Taejŏn, South Korea. In Mol Biol Evol, 2012
We will use the Tbx6/16 subfamily genes of zebrafish (tbx6, tbx16, tbx24, and mga genes), which have been well known for the ambiguity of their evolutionary relationships to the Tbx6/16 subfamily genes of tetrapods, as an illustrative example.
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.
Aittomäki et al., Helsinki, Finland. In Orphanet J Rare Dis, 2012
More importantly, sequencing of TBX6, residing within 16p11.2,
Spatially coordinated kinase signaling regulates local axon degeneration.
Watts et al., San Francisco, United States. In J Neurosci, 2012
Additionally, we identify the dleu2/mir15a/16-1 cluster, previously characterized as a regulator of B-cell proliferation, and the transcription factor tbx6, as likely downstream effectors of GSK3β in axon degeneration.
Tbx6 is a determinant of cardiac and neural cell fate decisions in multipotent P19CL6 cells.
GeneRIF
Kitsis et al., United States. In Differentiation, 2012
Tbx6 is required for cardiac myocyte differentiation and represses neural differentiation in the P19CL6 model.
Fss/Tbx6 is required for central dermomyotome cell fate in zebrafish.
Devoto et al., Middletown, United States. In Biol Open, 2012
The fused somites (fss) gene is the zebrafish ortholog of tbx6.
Interaction of Wnt3a, Msgn1 and Tbx6 in neural versus paraxial mesoderm lineage commitment and paraxial mesoderm differentiation in the mouse embryo.
GeneRIF
Hadjantonakis et al., New York City, United States. In Dev Biol, 2012
Tbx6 acts in the mesoderm where it has a dual function. It promotes differentiation of cells into paraxial mesoderm, and it suppresses neural cell fate specification by repressing Sox2.
Tbx6-dependent Sox2 regulation determines neural or mesodermal fate in axial stem cells.
Impact
GeneRIF
Kondoh et al., Suita, Japan. In Nature, 2011
Tbx6 represses Sox2 by inactivating enhancer N1 to inhibit neural development, and this is an essential step for the specification of paraxial mesoderm from the axial stem cells.
Tbx18 and Tbx15 null-like phenotypes in mouse embryos expressing Tbx6 in somitic and lateral plate mesoderm.
GeneRIF
Chapman et al., Pittsburgh, United States. In Dev Biol, 2010
determined the phenotypic and molecular consequences of ectopically expressing Tbx6 within the segmented paraxial mesoderm and its derivatives using a 3-component transgenic system
The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population.
GeneRIF
Qiu et al., Beijing, China. In Spine (phila Pa 1976), 2010
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.
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