Property Summary

NCBI Gene PubMed Count 50
Grant Count 168
R01 Count 88
Funding $31,354,646.5
PubMed Score 90.33
PubTator Score 1890.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Synonym

Accession O43435 C6G493 C6G494 O43436 Q96RJ2 T-box protein 1
Symbols DGS
TGA
VCF
CAFS
CTHM
DGCR
DORV
VCFS
TBX1C
CATCH22

Gene

PANTHER Protein Class (1)

PDB

4A04  

 GO Component (1)

Gene RIF (46)

PMID Text
26036351 The results clearly suggest a possible etiologic association between the TBX1 deletion and Tetralogy of Fallot.
25860641 TBX1 loss-of-function mutation with enhanced susceptibility to double outlet right ventricle (DORV) and ventricular septal defect (VSD)in humans, which provides novel insight into the molecular mechanism underlying Congenital heart disease (CHD).
25168891 SNPs in three genes CYP26B1 rs2241057, CISD1 rs2251039, rs2590370, and TBX1 rs4819522 were involved in six potential pathways to influence serum prostate-specific antigen levels.
24998776 Observations suggest that TBX1 loss-of-function mutation may be involved in the pathogenesis of isolated conotrucal heart defects (CTDs)in patients without 22q11.2 deletion.
24637876 TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.
24295890 DNA sequence variants within the TBX1 gene promoter may change TBX1 level, contributing to indirect inguinal hernia development as a rare risk factor
23945394 Results show that TBX1 regulates brain angiogenesis through the DLL4/Notch1-VEGFR3 regulatory axis.
23828768 Findings indicate an association between TBX1 variations and fetal CTD. The results also demonstrate the power of array CGH to further scrutinize the critical gene(s) of del22q11.2 syndrome responsible for heart defects.
23034814 common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant.
22931165 shRNA silencing of the T-box transcription factor Brachyury resulted in downregulation of the EMT and stem cell markers in adenoid cystic carcinoma cell lines. Brachyury expression in clinical samples of AdCC was extremely high and closely related to EMT.
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AA Sequence

MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAY      1 - 70
PFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMF     71 - 140
PTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQI    141 - 210
VSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHR    211 - 280
ITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAET    281 - 350
SRNTPEREVELLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC                          351 - 398
//

Text Mined References (51)

PMID Year Title
26036351 2015 Identification of Copy Number Variations in Isolated Tetralogy of Fallot.
25860641 2015 A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.
25217961 2014 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
25168891 2014 Pathway analysis of genome-wide association study on serum prostate-specific antigen levels.
24998776 2014 Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
24637876 2014 TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
24295890 2014 Genetic analysis of the TBX1 gene promoter in indirect inguinal hernia.
23945394 2014 Tbx1 regulates brain vascularization.
23828768 2014 Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
23725790 2013 GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
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