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Results: 1 to 20 of 22

1.

A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.

Li Y, Zhang K, Chen H, Sun F, Xu J, Wu Z, Li P, Zhang L, Du Y, Luan H, Li X, Wu L, Li H, Wu H, Li X, Li X, Zhang X, Gong L, Dai L, Sun L, Zuo X, Xu J, Gong H, Li Z, Tong S, Wu M, Li X, Xiao W, Wang G, Zhu P, Shen M, Liu S, Zhao D, Liu W, Wang Y, Huang C, Jiang Q, Liu G, Liu B, Hu S, Zhang W, Zhang Z, You X, Li M, Hao W, Zhao C, Leng X, Bi L, Wang Y, Zhang F, Shi Q, Qi W, Zhang X, Jia Y, Su J, Li Q, Hou Y, Wu Q, Xu D, Zheng W, Zhang M, Wang Q, Fei Y, Zhang X, Li J, Jiang Y, Tian X, Zhao L, Wang L, Zhou B, Li Y, Zhao Y, Zeng X, Ott J, Wang J, Zhang F.

Nat Genet. 2013 Nov;45(11):1361-5. doi: 10.1038/ng.2779. Epub 2013 Oct 6.

PMID:
24097066
[PubMed - indexed for MEDLINE]
2.

Evolution of general transcription factors.

Gunbin KV, Ruvinsky A.

J Mol Evol. 2013 Feb;76(1-2):28-47. doi: 10.1007/s00239-012-9535-y. Epub 2012 Dec 11.

PMID:
23229069
[PubMed - indexed for MEDLINE]
3.

SUMOylation of GTF2IRD1 regulates protein partner interactions and ubiquitin-mediated degradation.

Widagdo J, Taylor KM, Gunning PW, Hardeman EC, Palmer SJ.

PLoS One. 2012;7(11):e49283. doi: 10.1371/journal.pone.0049283. Epub 2012 Nov 8.

PMID:
23145142
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.

Porter MA, Dobson-Stone C, Kwok JB, Schofield PR, Beckett W, Tassabehji M.

PLoS One. 2012;7(10):e47457. doi: 10.1371/journal.pone.0047457. Epub 2012 Oct 31.

PMID:
23118870
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members.

Palmer SJ, Taylor KM, Santucci N, Widagdo J, Chan YK, Yeo JL, Adams M, Gunning PW, Hardeman EC.

J Cell Sci. 2012 Nov 1;125(Pt 21):5040-50. doi: 10.1242/jcs.102798. Epub 2012 Aug 16.

PMID:
22899722
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF.

Am J Hum Genet. 2012 Jun 8;90(6):1071-8. doi: 10.1016/j.ajhg.2012.04.020. Epub 2012 May 17.

PMID:
22608712
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Human gene copy number spectra analysis in congenital heart malformations.

Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME.

Physiol Genomics. 2012 May 1;44(9):518-41. doi: 10.1152/physiolgenomics.00013.2012. Epub 2012 Feb 7.

PMID:
22318994
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

Neurobiol Dis. 2012 Mar;45(3):913-22. doi: 10.1016/j.nbd.2011.12.010. Epub 2011 Dec 11.

PMID:
22198572
[PubMed - indexed for MEDLINE]
9.

Animal models of Williams syndrome.

Osborne LR.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):209-19. doi: 10.1002/ajmg.c.30257. Review.

PMID:
20425782
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Estrogen receptor alpha controls a gene network in luminal-like breast cancer cells comprising multiple transcription factors and microRNAs.

Cicatiello L, Mutarelli M, Grober OM, Paris O, Ferraro L, Ravo M, Tarallo R, Luo S, Schroth GP, Seifert M, Zinser C, Chiusano ML, Traini A, De Bortoli M, Weisz A.

Am J Pathol. 2010 May;176(5):2113-30. doi: 10.2353/ajpath.2010.090837. Epub 2010 Mar 26.

PMID:
20348243
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

J Biol Chem. 2010 Feb 12;285(7):4715-24. doi: 10.1074/jbc.M109.086660. Epub 2009 Dec 9.

PMID:
20007321
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

J Med Genet. 2010 May;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5.

PMID:
19897463
[PubMed - indexed for MEDLINE]
13.

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G.

Eur J Hum Genet. 2010 Jan;18(1):33-8. doi: 10.1038/ejhg.2009.108. Epub .

PMID:
19568270
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Am J Med Genet A. 2009 Mar;149A(3):302-14. doi: 10.1002/ajmg.a.32652.

PMID:
19205026
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Alternative splicing and promoter use in TFII-I genes.

Makeyev AV, Bayarsaihan D.

Gene. 2009 Mar 15;433(1-2):16-25. doi: 10.1016/j.gene.2008.11.027. Epub 2008 Dec 9.

PMID:
19111598
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Identification of the TFII-I family target genes in the vertebrate genome.

Chimge NO, Makeyev AV, Ruddle FH, Bayarsaihan D.

Proc Natl Acad Sci U S A. 2008 Jul 1;105(26):9006-10. doi: 10.1073/pnas.0803051105. Epub 2008 Jun 25.

PMID:
18579769
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome.

Ohazama A, Sharpe PT.

Dev Dyn. 2007 Oct;236(10):2884-8.

PMID:
17823943
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

FEBS Lett. 2007 Mar 20;581(6):1233-42. Epub 2007 Feb 28.

PMID:
17346708
[PubMed - indexed for MEDLINE]
Free Article
19.

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.

Palmer SJ, Tay ES, Santucci N, Cuc Bach TT, Hook J, Lemckert FA, Jamieson RV, Gunnning PW, Hardeman EC.

Gene Expr Patterns. 2007 Feb;7(4):396-404. Epub 2006 Dec 1.

PMID:
17239664
[PubMed - indexed for MEDLINE]
20.

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.

J Med Genet. 2007 Feb;44(2):136-43. Epub 2006 Sep 13.

PMID:
16971481
[PubMed - indexed for MEDLINE]
Free PMC Article

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