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Items: 1 to 20 of 103

1.

Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.

Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL.

Int J Biochem Cell Biol. 2011 Oct;43(10):1523-31. doi: 10.1016/j.biocel.2011.07.003. Epub 2011 Jul 27.

2.

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ.

Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009.

3.

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ.

Clin Genet. 2015 Nov;88(5):489-493. doi: 10.1111/cge.12539. Epub 2014 Dec 11.

4.

A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.

Girisha KM, Bidchol AM, Sarpangala MK, Satyamoorthy K.

Indian J Pediatr. 2014 Mar;81(3):302-4. doi: 10.1007/s12098-013-1253-y. Epub 2013 Oct 15.

PMID:
24127007
5.

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ.

Am J Med Genet A. 2015 May;167A(5):1061-70. doi: 10.1002/ajmg.a.36973. Epub 2015 Feb 27.

PMID:
25728400
6.

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ.

J Med Genet. 2011 Oct;48(10):716-20. doi: 10.1136/jmedgenet-2011-100251.

PMID:
21931173
7.

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F.

Pediatr Neurol. 2014 Apr;50(4):389-91. doi: 10.1016/j.pediatrneurol.2013.12.009. Epub 2013 Dec 14.

PMID:
24486222
8.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.

9.

Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutants.

Maia AM, da Silva JH, Mencalha AL, Caffarena ER, Abdelhay E.

BMC Bioinformatics. 2012 Jul 28;13:184. doi: 10.1186/1471-2105-13-184.

10.

Biological function and molecular mechanism of Twist2.

Chengxiao Z, Ze Y.

Yi Chuan. 2015 Jan;37(1):17-24. doi: 10.16288/j.yczz.2015.01.003. Review.

PMID:
25608809
11.

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, Weaver DD, Desnick RJ.

J Hum Genet. 2015 Nov;60(11):717-22. doi: 10.1038/jhg.2015.103. Epub 2015 Aug 27.

PMID:
26311541
12.

Twist1- and Twist2-haploinsufficiency results in reduced bone formation.

Huang Y, Meng T, Wang S, Zhang H, Mues G, Qin C, Feng JQ, D'Souza RN, Lu Y.

PLoS One. 2014 Jun 27;9(6):e99331. doi: 10.1371/journal.pone.0099331. eCollection 2014.

14.

Oxidative stress drives disulfide bond formation between basic helix-loop-helix transcription factors.

Danciu TE, Whitman M.

J Cell Biochem. 2010 Feb 1;109(2):417-24. doi: 10.1002/jcb.22415.

PMID:
19950203
15.

Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c.

Lee YS, Lee HH, Park J, Yoo EJ, Glackin CA, Choi YI, Jeon SH, Seong RH, Park SD, Kim JB.

Nucleic Acids Res. 2003 Dec 15;31(24):7165-74.

16.

Phosphoregulation of Twist1 provides a mechanism of cell fate control.

Firulli AB, Conway SJ.

Curr Med Chem. 2008;15(25):2641-7. Review.

17.

Twist2 regulates CD7 expression and galectin-1-induced apoptosis in mature T-cells.

Koh HS, Lee C, Lee KS, Park EJ, Seong RH, Hong S, Jeon SH.

Mol Cells. 2009 Dec 31;28(6):553-8. doi: 10.1007/s10059-009-0150-8. Epub 2009 Nov 19.

18.
19.

Promotion of hepatocellular carcinoma metastasis through matrix metalloproteinase activation by epithelial-mesenchymal transition regulator Twist1.

Zhao XL, Sun T, Che N, Sun D, Zhao N, Dong XY, Gu Q, Yao Z, Sun BC.

J Cell Mol Med. 2011 Mar;15(3):691-700. doi: 10.1111/j.1582-4934.2010.01052.x.

20.

Regulation of p21 by TWIST2 contributes to its tumor-suppressor function in human acute myeloid leukemia.

Zhang X, Ma W, Cui J, Yao H, Zhou H, Ge Y, Xiao L, Hu X, Liu BH, Yang J, Li YY, Chen S, Eaves CJ, Wu D, Zhao Y.

Oncogene. 2015 Jun 4;34(23):3000-10. doi: 10.1038/onc.2014.241. Epub 2014 Aug 4.

PMID:
25088197

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