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Page 1
Williams syndrome.
Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Kozel BA, et al. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Nat Rev Dis Primers. 2021. PMID: 34140529 Free PMC article. Review.
Genotype-phenotype evidence is strongest for ELN, the gene encoding elastin, which is responsible for the vascular and connective tissue features of WS, and for the transcription factor genes GTF2I and GTF2IRD1, which are known to affect intellectual ability, social functi …
Genotype-phenotype evidence is strongest for ELN, the gene encoding elastin, which is responsible for the vascular and connective tissue fea …
GTF2IRD1 overexpression promotes tumor progression and correlates with less CD8+ T cells infiltration in pancreatic cancer.
Zhuang H, Zhang C, Hou B. Zhuang H, et al. Biosci Rep. 2020 Sep 30;40(9):BSR20202150. doi: 10.1042/BSR20202150. Biosci Rep. 2020. PMID: 32936232 Free PMC article.
However, the potential function of GTF2IRD1 in pancreatic cancer (PC) still remains unknown. Study on GTF2IRD1 might provide a new insight into the carcinogenesis and therapeutics of PC. METHODS: In the current study, the clinical significance and potential biologic …
However, the potential function of GTF2IRD1 in pancreatic cancer (PC) still remains unknown. Study on GTF2IRD1 might provide a …
Williams Syndrome.
Morris CA. Morris CA. 1999 Apr 9 [updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1999 Apr 9 [updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301427 Free Books & Documents. Review.
GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor-suppressor gene TGFbetaR2 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. Nambara S, et al. Cancer Sci. 2020 Feb;111(2):343-355. doi: 10.1111/cas.14248. Epub 2019 Dec 27. Cancer Sci. 2020. PMID: 31758608 Free PMC article.
We further investigated the oncogenic mechanisms through which GTF2IRD1 promoted CRC progression. Finally, we assessed the clinical significance of GTF2IRD1 expression by RT-qPCR. ...GTF2IRD1 could also be a novel oncogene in CRC....
We further investigated the oncogenic mechanisms through which GTF2IRD1 promoted CRC progression. Finally, we assessed the clinical s …
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
Cummings CT, Starr LJ. Cummings CT, et al. Am J Med Genet A. 2023 Feb;191(2):332-337. doi: 10.1002/ajmg.a.63021. Epub 2022 Oct 29. Am J Med Genet A. 2023. PMID: 36308390 Free PMC article.
GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams-Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as …
GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous lo …
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. Tassabehji M, et al. Science. 2005 Nov 18;310(5751):1184-7. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Science. 2005. PMID: 16293761
Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of …
Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); c …
Association of GTF2IRD1-GTF2I polymorphisms with neuromyelitis optica spectrum disorders in Han Chinese patients.
Xie JL, Liu J, Lian ZY, Chen HX, Shi ZY, Zhang Q, Feng HR, Du Q, Miao XH, Zhou HY. Xie JL, et al. Neural Regen Res. 2019 Feb;14(2):346-353. doi: 10.4103/1673-5374.244800. Neural Regen Res. 2019. PMID: 30531019 Free PMC article.
Variants at the GTF2I repeat domain containing 1 (GTF2IRD1)-GTF2I locus are associated with primary Sjogren's syndrome, systemic lupus erythematosus, and rheumatoid arthritis. ...Peripheral blood was collected, DNA extracteds and the genetic association between GTF2IRD1 …
Variants at the GTF2I repeat domain containing 1 (GTF2IRD1)-GTF2I locus are associated with primary Sjogren's syndrome, systemic lupu …
Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.
Kopp ND, Nygaard KR, Liu Y, McCullough KB, Maloney SE, Gabel HW, Dougherty JD. Kopp ND, et al. Hum Mol Genet. 2020 Jun 3;29(9):1498-1519. doi: 10.1093/hmg/ddaa070. Hum Mol Genet. 2020. PMID: 32313931 Free PMC article.
We next used single and double mutants to test whether mutating both TFs will modify transcriptional and behavioral phenotypes of single Gtf2ird1 mutants, though with the caveat that our Gtf2ird1 mutants, like others previously reported, do produce low levels of a t …
We next used single and double mutants to test whether mutating both TFs will modify transcriptional and behavioral phenotypes of single …
A human forebrain organoid model reveals the essential function of GTF2IRD1-TTR-ERK axis for the neurodevelopmental deficits of Williams syndrome.
Zhao X, Sun Q, Shou Y, Chen W, Wang M, Qu W, Huang X, Li Y, Wang C, Gu Y, Ji C, Shu Q, Li X. Zhao X, et al. Elife. 2024 Dec 13;13:RP98081. doi: 10.7554/eLife.98081. Elife. 2024. PMID: 39671308 Free PMC article.
Mechanistically, the expression of transthyretin (TTR) are remarkably decreased in WS forebrain organoids. We have found that GTF2IRD1 encoded by one WS associated gene GTF2IRD1 binds to TTR promoter regions and regulates the expression of TTR. ...Collectively, our …
Mechanistically, the expression of transthyretin (TTR) are remarkably decreased in WS forebrain organoids. We have found that GTF2IRD1 …
Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
Kopp N, McCullough K, Maloney SE, Dougherty JD. Kopp N, et al. Hum Mol Genet. 2019 Oct 15;28(20):3443-3465. doi: 10.1093/hmg/ddz176. Hum Mol Genet. 2019. PMID: 31418010 Free PMC article.
We compare a new mouse model with loss of function mutations in both Gtf2i and Gtf2ird1 to an established mouse model lacking the complete WSCR. We show that the complete deletion (CD) model has deficits across several behavioral domains including social communication, mot …
We compare a new mouse model with loss of function mutations in both Gtf2i and Gtf2ird1 to an established mouse model lacking the com …
111 results