Over—expressionofTBX1genemightbeapotentially pathogenicmechanismofADPKD. Keywords TBXI;autosomaldominant;polycystickidneydisease 常染色体显性遗传性多囊肾(autosomaldomi- nantpolycystickidneydisease,ADPKD)是一种常见 的遗传性肾病,发生率为活产新生儿的0.1%～ ...
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):] 这个基因是共享一个公共的DNA结合结构域,所述T-box基因的系统发育保守的家族的??一个成员。 T-box基因编码参与发育过程的调控的转录因子。
PROTEIN-protein interactionsThe TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations. In this study, we performed in-silico analysis to identify potentially...
a gene from the DiGec rg e c~ nal re gion homvlogous to th e lnouse . It lx1.Gene Geman ics 。1997 .43:267 277 . 4 k I2ar08 KK,Vijaya P,Aaron G,ct a1 .Cloning and characterizati on h瑚6 sh rbx1.C,ene Expression Pattern s ,2003 ,3:645 65 1. ...
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
［关键词］22qll微缺失综合征:DiGeorge综合征；TBX1；表型;腭心面综合征 ［中图分类号］R394［文献标志码］A［文章编号］1008-8199(2020)06-0664-05 ［DOI］10.16571/j.cnki.1008-8199.2020.06.020 Research progress on mechanism of TBX1gene affecting phenotype of22qll.2microdeletion syndrome LU Yue...
T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS), whose phenotypes include craniofacial malformations such as dental defects and cleft palate. Tbx1 was conditionally deleted or over-expressed in the oral and dental epithelium to establish its ...
The 22q11.2 microdeletion syndrome is the most common microdeletion syndrome [1]. Mutation of the TBX1 gene located in 22q11.2 has ... A Halder,M Jain,I Chaudhary,... 被引量: 18发表: 0年 加载更多来源期刊 Journal of Medical Molecular Biology 2006-05 研究点推荐 Chromosome 22q11.2 ...
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 ...
Gene Name TBX1 Accession No. O43435 Alternate Names Brachyury; CAFS; CTHM; DGCR; DGS; DORV; T box; T box 1; T box 1 transcription factor; T box 1 transcription factor C; T box protein 1; T box transcription factor TBX 1; T box transcription factor TBX1; T-box protein 1; T-box...