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Items: 1 to 20 of 203

1.

Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.

Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH.

Am J Hum Genet. 2012 Jun 8;90(6):941-9. doi: 10.1016/j.ajhg.2012.04.013. Epub 2012 May 10.

2.

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Elsea SH, Williams SR.

Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827. Review.

PMID:
21545756
3.

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.

Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH.

Hum Mol Genet. 2010 Oct 15;19(20):4026-42. doi: 10.1093/hmg/ddq317. Epub 2010 Jul 27.

4.

Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.

Lacaria M, Gu W, Lupski JR.

Am J Med Genet A. 2013 Jul;161A(7):1561-8. doi: 10.1002/ajmg.a.35941. Epub 2013 May 23.

5.

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH.

Eur J Hum Genet. 2015 Jun;23(6):781-9. doi: 10.1038/ejhg.2014.200. Epub 2014 Oct 1.

PMID:
25271084
6.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR.

Hum Genet. 2004 Nov;115(6):515-24. Epub 2004 Sep 30.

PMID:
15565467
7.

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Chen L, Mullegama SV, Alaimo JT, Elsea SH.

Dev Period Med. 2015 Apr-Jun;19(2):149-56. Review.

PMID:
26384114
8.

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

Carmona-Mora P, Canales CP, Cao L, Perez IC, Srivastava AK, Young JI, Walz K.

PLoS One. 2012;7(9):e45155. doi: 10.1371/journal.pone.0045155. Epub 2012 Sep 18.

9.

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.

PMID:
17041942
10.

Alteration of the circadian clock in children with Smith-Magenis syndrome.

Nováková M, Nevsímalová S, Príhodová I, Sládek M, Sumová A.

J Clin Endocrinol Metab. 2012 Feb;97(2):E312-8. doi: 10.1210/jc.2011-2750. Epub 2011 Dec 7.

PMID:
22162479
11.

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR.

J Med Genet. 2000 Jun;37(6):428-33.

12.

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.

Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR.

Hum Mol Genet. 2005 Apr 15;14(8):983-95. Epub 2005 Mar 3.

13.

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.

PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8.

14.

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.

Girirajan S, Elsea SH.

Eur J Med Genet. 2009 Jul-Aug;52(4):224-8. doi: 10.1016/j.ejmg.2008.12.002. Epub 2008 Dec 24.

PMID:
19116176
15.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK.

Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7.

16.

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR.

Hum Mol Genet. 2007 Aug 1;16(15):1802-13. Epub 2007 May 21.

17.

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.

Carmona-Mora P, Encina CA, Canales CP, Cao L, Molina J, Kairath P, Young JI, Walz K.

BMC Mol Biol. 2010 Aug 25;11:63. doi: 10.1186/1471-2199-11-63.

18.

Smith-Magenis syndrome.

De Leersnyder H.

Handb Clin Neurol. 2013;111:295-6. doi: 10.1016/B978-0-444-52891-9.00034-8. Review.

PMID:
23622179
19.

Genome-wide expression analysis of mouse liver reveals CLOCK-regulated circadian output genes.

Oishi K, Miyazaki K, Kadota K, Kikuno R, Nagase T, Atsumi G, Ohkura N, Azama T, Mesaki M, Yukimasa S, Kobayashi H, Iitaka C, Umehara T, Horikoshi M, Kudo T, Shimizu Y, Yano M, Monden M, Machida K, Matsuda J, Horie S, Todo T, Ishida N.

J Biol Chem. 2003 Oct 17;278(42):41519-27. Epub 2003 Jul 15.

20.

Chicken pineal clock genes: implication of BMAL2 as a bidirectional regulator in circadian clock oscillation.

Okano T, Yamamoto K, Okano K, Hirota T, Kasahara T, Sasaki M, Takanaka Y, Fukada Y.

Genes Cells. 2001 Sep;6(9):825-36.

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