Conti E; Grifone N; Sarkozy A;.DiGeorge subtypes of non- syndromic conotruncal defects: evidence against a major role of TBX1 gene.EurJ Hum Genet.2003.349-351Conti E,Grifone N,Sarkozy A. DiGeorge subtypes of nonsyndromic conotruncal defects:evidence against a major role of TBX1 gene[J]...
中国先天性心脏病患者TBX1基因突变的研究 华中科技大学 硕士学位论文 中国先天性心脏病患者TBX1基因突变的研究 姓名：黄莹 申请学位级别：硕士 专业：儿科 指导教师：金润铭 20070501
Tbx1, the gene responsible for velo-cardio-facial syndrome/DiGeorge syndrome in humans, is required for ear development in mice. Tbx1 is expressed in the otic epithelium and adjacent periotic mesenchyme (POM), and both of these domains are required for inner ear formation. To study the ...
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 Nat. Genet., 27 (2001), pp. 286-291 View in ScopusGoogle Scholar Jespersen et al., 2005 T. Jespersen, M. Grunnet, S.P. Olesen The KCNQ1 potassium channel: from gene to physiological function Physiology, 20 (2005)...
Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] [中文简述(自动翻译):] 这个基因...
Choudhry P, Trede NS: DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation. PLoS One. 2013, 8: e58145- Article CAS PubMed PubMed Central Google Scholar Scambler PJ: 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular devel...
DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a ...
Tbx1 GeneTbx1 ExpressionPharyngeal morphogenesis is a complex process involving precise coordination of multiple cell types and transcription networks.TBX1heterozygous mutation causes DiGeorge Syndrome, a typical disorder of pharyngeal development. In mice, loss of function ofTbx1causes severe disruption ...
:yhgui @s hmu .edu .cn 【Abstract 】 Objective Tbx1,one of the genes mapped within the del22q11locus in human ,is important for aortic arch formation and also contributes to the development of the outflow tract .Tbx1currently represents the most promising candidate gene for DiGeorge ...
Rabbit anti Human TBX1 antibody recognizes the T-box transcription factor TBX1, also known as T-box 1 transcription factor C, TGA, CAFS or VCF.The TBX1 gene is a member of a phylogenetically conserved family of genes sharing a common DNA-binding domain, the T-box. T-box genes encode ...