| GTF2IRD1 overexpression promotes tumor progression and correlates with less CD8+ T cells infiltration in pancreatic cancer. | GTF2IRD1 overexpression promotes tumor progression and correlates with less CD8+ T cells infiltration in pancreatic cancer.
Zhuang H, Zhang C, Hou B., Free PMC Article | 04/3/2021 |
| Study showed that GTF2IRD1 was overexpressed due to copy number amplification at Ch.7q in colorectal cancer (CRC). The expression of GTF2IRD1 was positively associated with the malignant pathological phenotype. Furthermore, high expression of GTF2IRD1 was an independent poor prognostic factor in CRC. Mechanistically, GTF2IRD1 promoted cell cycle progression by downregulation of TGFbetaR2 in CRC. | GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor-suppressor gene TGFβR2 in colorectal cancer.
Nambara S, Masuda T, Kobayashi Y, Sato K, Tobo T, Koike K, Noda M, Ogawa Y, Kuroda Y, Ito S, Eguchi H, Sugimachi K, Mimori K., Free PMC Article | 02/22/2020 |
| Among 110 SNPs within the 7q11.23 William's Syndrome (WS) chromosomal region, we found one associated locus located at GTF2IRD1, which has been implicated in animal models of WS. | Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes.
Fan CC, Schork AJ, Brown TT, Spencer BE, Akshoomoff N, Chen CH, Kuperman JM, Hagler DJ Jr, Steen VM, Le Hellard S, Håberg AK, Espeseth T, Andreassen OA, Dale AM, Jernigan TL, Halgren E, Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative., Free PMC Article | 02/9/2019 |
| 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. | An In Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter.
Huo Y, Su T, Cai Q, Macara IG., Free PMC Article | 09/23/2017 |
| Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele. | Association of GTF2I and GTF2IRD1 polymorphisms with systemic lupus erythematosus in a Chinese Han population.
Li Y, Li P, Chen S, Wu Z, Li J, Zhang S, Cao C, Wang L, Liu B, Zhang F, Li YZ. | 12/19/2015 |
| GTF2IRD1 binding partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium. | The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation.
Carmona-Mora P, Widagdo J, Tomasetig F, Canales CP, Cha Y, Lee W, Alshawaf A, Dottori M, Whan RM, Hardeman EC, Palmer SJ. | 12/5/2015 |
| GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxbeta. | SUMOylation of GTF2IRD1 regulates protein partner interactions and ubiquitin-mediated degradation.
Widagdo J, Taylor KM, Gunning PW, Hardeman EC, Palmer SJ., Free PMC Article | 06/29/2013 |
| 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 | The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF., Free PMC Article | 08/25/2012 |
| 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. | Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.
Howard ML, Palmer SJ, Taylor KM, Arthurson GJ, Spitzer MW, Du X, Pang TY, Renoir T, Hardeman EC, Hannan AJ. | 06/9/2012 |
| 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 | Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA. | 08/2/2010 |
| 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. | Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.
Palmer SJ, Santucci N, Widagdo J, Bontempo SJ, Taylor KM, Tay ES, Hook J, Lemckert F, Gunning PW, Hardeman EC., Free PMC Article | 05/31/2010 |
| GTF2IRD1 is associated with Williams syndrome facies and visual-spatial construction. | Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.
Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Järvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, Korenberg JR., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C. | 04/1/2009 |
| analysis of the consensus binding site for TFII-I family member BEN | Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome.
Lazebnik MB, Tussie-Luna MI, Roy AL., Free PMC Article | 01/21/2010 |
| GTF2IRD1 and GTF2I have roles in causing deficits on visual spatial functioning | Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.
Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. | 01/21/2010 |
| role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C and the nuclear receptor co-repressor | hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer.
Polly P, Haddadi LM, Issa LL, Subramaniam N, Palmer SJ, Tay ES, Hardeman EC. | 01/21/2010 |
| a regulator of slow fiber-specific genes | MusTRD can regulate postnatal fiber-specific expression.
Issa LL, Palmer SJ, Guven KL, Santucci N, Hodgson VR, Popovic K, Joya JE, Hardeman EC. | 01/21/2010 |
| GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development | GTF2IRD1 in craniofacial development of humans and mice.
Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. | 01/21/2010 |
| functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I) | GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.
Thompson PD, Webb M, Beckett W, Hinsley T, Jowitt T, Sharrocks AD, Tassabehji M. | 01/21/2010 |
| human VEGFR-2 promoter is functionally counter-regulated by TFII-I and TFII-IRD1. | Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1.
Jackson TA, Taylor HE, Sharma D, Desiderio S, Danoff SK. | 01/21/2010 |
| characterization and involvement in slow muscle-specific gene expression | Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression.
Vullhorst D, Buonanno A. | 01/21/2010 |