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Items: 1 to 20 of 250

1.

GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.

Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B, Ruddle FH, Bayarsaihan D.

Proc Natl Acad Sci U S A. 2004 Jul 27;101(30):11052-7. Epub 2004 Jul 8.

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Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region.

Bayarsaihan D, Dunai J, Greally JM, Kawasaki K, Sumiyama K, Enkhmandakh B, Shimizu N, Ruddle FH.

Genomics. 2002 Jan;79(1):137-43.

PMID:
11827466
4.

Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.

Hinsley TA, Cunliffe P, Tipney HJ, Brass A, Tassabehji M.

Protein Sci. 2004 Oct;13(10):2588-99.

5.

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
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9.

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K.

Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47.

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12.

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.

14.

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.

15.

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.

Genet Med. 2003 Jul-Aug;5(4):311-21.

PMID:
12865760
16.

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.

17.

The early embryonic expression of TFII-I during mouse preimplantation development.

Enkhmandakh B, Bitchevaia N, Ruddle F, Bayarsaihan D.

Gene Expr Patterns. 2004 Jan;4(1):25-8.

PMID:
14678824
18.

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.

van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, Govaerts LC, Wouters CH, de Coo IF, Hoogenraad CC, Koekkoek SK, Frens MA, van Camp N, van der Linden A, Jansweijer MC, Thorgeirsson SS, De Zeeuw CI.

Neurobiol Dis. 2007 Apr;26(1):112-24. Epub 2006 Dec 20.

PMID:
17270452
20.

Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.

Franke Y, Peoples RJ, Francke U.

Cytogenet Cell Genet. 1999;86(3-4):296-304.

PMID:
10575229

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