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may act as a muscle specific transcription factor\; human homolog may be associated with the Williams-Beuren microdeletion syndrome [RGD, Feb 2006].. 再加上，我们可以发GTF2IRD1 抗体 (97) 和 GTF2IRD1 蛋白 (7)和数多这个蛋白质的别的产品。
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cGMP-dependent protein kinase (显示 CDK7 ELISA试剂盒) Ibeta binds to TFII-I and IRAG (显示 MRVI1 ELISA试剂盒) through a common interaction motif
The mis-regulation of genes downstream of GTF2IRD1, including TbetaR2 and BMPR1b, also individually promoted mammary cancer development, and silencing of TbetaR2 suppressed GTF2IRD1-driven tumor promotion.
the absence of GTF2IRD1 is associated with increased expression of genes involved in cellular proliferation, including growth factors consistent with the observed phenotype of extreme thickening of the epidermis.
Gtf2ird1 is essential for Mkx (显示 MKX ELISA试剂盒) transcription, while also linking mechanical forces to Mkx (显示 MKX ELISA试剂盒)-mediated tendon homeostasis and regeneration.
Gtf2ird1 is expressed in a number of cell types within the cochlea. Gtf2ird1 null mice showed higher auditory thresholds.
findings suggest an important role for GTF2IRD1 in regulating the level and topology of rod and cone gene expression, and in maintaining normal retinal function.
GTF2IRD2 has evolved as a regulator of GTF2IRD1 and TFII-I; inhibiting their function by direct interaction and sequestration into inactive nuclear zones.
This study presented that role for GTF2IRD1 in the motoric and anxiety-related abnormalities seen in Williams-Beuren syndrome, and suggests basal ganglia and potentially cerebellar abnormalities in Gtf2ird1 mice.
Widespread and robust expression of Gtf2ird1 protein in the developing rodent brain, is reported.
Data show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites.
The presence of different domains in 11 alternatively spliced isoforms of Gtf2ird1 indicates that the activity exerted by this molecule influences multiple promoters active in mouse skeletal muscle.
Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele.
GTF2IRD1 binding partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium.
GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxbeta.
CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome; GTF2IRD1 and GTF2I are the main genes causing the cognitive defects
This study provided evidences that insufficiency of GTF2IRD1 protein contributes to abnormalities of facial development, motor function and specific behavioural disorders that accompany Williams-Beuren syndrome.
functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of Williams-Beuren syndrome
characterization and involvement in slow muscle-specific gene expression
role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C (显示 MEF2C ELISA试剂盒) and the nuclear receptor co-repressor
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants.
general transcription factor II-I repeat domain-containing protein 1
, general transcription factor II I repeat domain-containing 1
, Alb-c-myc line 166.8
, Alb/c-myc line 166.8
, GTF2I repeat domain-containing 1
, GTF2I repeat domain-containing protein 1
, Williams-Beuren syndrome chromosome region 11
, binding factor for early enhancer
, c-myc line 166.8
, general transcription factor 3
, muscle TFII-I repeat domain-containing protein 1
, transcription factor GTF3 alpha 2
, transcription factor GTF3 gamma 2
, GTF2I repeat domain containing 1
, USE B1-binding protein
, general transcription factor III
, muscle TFII-I repeat domain-containing protein 1 alpha 1
, slow-muscle-fiber enhancer-binding protein
, williams-Beuren syndrome chromosomal region 12 protein
, general transcription factor II-I repeat domain-containing protein 1-like
, Binding factor for early enhancer
, Williams-Beuren syndrome critical region 11-like protein