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TBX22 is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. Additionally we are shipping T-Box 22 Antibodies (41) and many more products for this protein.
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tbx22 was cloned & sequenced; 2 alternatively spliced transcripts were identified; tbx22 expression mirrored some aspects of mammalian Tbx22, consistent with roles in early vertebrate face patterning
we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry
These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 (show ETS1 Proteins) pathway.
TBX22 is the gene underlying Abruzzo-Erickson syndrome.
5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity.
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX (show CPOX Proteins)) phenotype observed in CPX (show CPOX Proteins) patients.
Four novel TBX22 splice site mutations in North American and Brazilian cleft palate families.
TBX22 is a target for the small ubiquitin-like modifier SUMO (show SUMO1 Proteins)-1 (show SUMO1 Proteins) and this modification is required for TBX22 repressor activity.
TBX22 mutations are responsible for a significant proportion of Thai non-syndromic cleft palate cases.
Analysis of the TBX22 promoter region revealed seven sequence variants, two of which are associated with cleft palate; this effect is stronger in a subgroup stratified for the presence of ankyloglossia.
Results demonstrate that FGF8 (show FGF8 Proteins) induces Tbx22 in the early face while BMP4 (show BMP4 Proteins) represses and thus restricts its expression. This regulation is conserved between chicken and mouse.
Data show that Tbx22 is an important determinant for intramembranous bone formation in the posterior hard palate, which underpins normal palate development and function.
primary role for Tbx22 in both palate and tongue development
Mn1 and Tbx22 function in a novel molecular pathway regulating mammalian palate development.
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. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
, T-box transcription factor TBX22
, t-box transcription factor TBX22-like
, T-box protein 22
, T-box transcription factor protein 22