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Items: 1 to 20 of 127

1.

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.

2.

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W.

PLoS Genet. 2012;8(5):e1002713. doi: 10.1371/journal.pgen.1002713. Epub 2012 May 24.

3.

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.

4.

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.

PMID:
17517686
5.

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB.

J Korean Med Sci. 2012 Dec;27(12):1586-90. doi: 10.3346/jkms.2012.27.12.1586. Epub 2012 Dec 7.

6.

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.

PMID:
15746153
7.

Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.

Heck DH, Gu W, Cao Y, Qi S, Lacaria M, Lupski JR.

Am J Med Genet A. 2012 Nov;158A(11):2807-14. doi: 10.1002/ajmg.a.35601. Epub 2012 Sep 18.

9.

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

Neira-Fresneda J, Potocki L.

J Pediatr Genet. 2015 Sep;4(3):159-67. doi: 10.1055/s-0035-1564443. Epub 2015 Sep 28. Review.

10.

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.

11.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, Reymond A.

Genome Med. 2016 Nov 1;8(1):105.

12.

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.

PMID:
20663924
13.

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR.

Hum Genet. 2016 Oct;135(10):1161-74. doi: 10.1007/s00439-016-1703-5. Epub 2016 Jul 7.

14.

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.

Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH.

J Pediatr Genet. 2017 Sep;6(3):155-164. doi: 10.1055/s-0037-1599147. Epub 2017 Mar 7.

PMID:
28794907
15.

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.

Hum Mol Genet. 2004 Nov 1;13(21):2613-24. Epub 2004 Sep 30.

PMID:
15459175
16.

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.

Cao L, Molina J, Abad C, Carmona-Mora P, Cárdenas Oyarzo A, Young JI, Walz K.

Hum Mol Genet. 2014 Apr 1;23(7):1771-82. doi: 10.1093/hmg/ddt568. Epub 2013 Nov 11.

PMID:
24218365
17.

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.

18.

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
19.

Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.

Alaimo JT, Hahn NC, Mullegama SV, Elsea SH.

PLoS One. 2014 Aug 15;9(8):e105077. doi: 10.1371/journal.pone.0105077. eCollection 2014. Erratum in: PLoS One. 2014;9(11):e114092. Hahn, Natalie H [corrected to Hahn, Natalie C].

20.

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

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