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Items: 1 to 20 of 116

1.

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.

PMID:
20663924
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.

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.

4.

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. Erratum in: PLoS One. 2014;9(11):e114092. Hahn, Natalie H [corrected to Hahn, Natalie C].

5.

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.

PMID:
15746153
6.
7.

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.

PMID:
19116176
8.

Selective deletion of Bdnf in the ventromedial and dorsomedial hypothalamus of adult mice results in hyperphagic behavior and obesity.

Unger TJ, Calderon GA, Bradley LC, Sena-Esteves M, Rios M.

J Neurosci. 2007 Dec 26;27(52):14265-74.

9.

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH.

Eur J Hum Genet. 2008 Aug;16(8):941-54. doi: 10.1038/ejhg.2008.21.

10.

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.

PMID:
15565467
11.

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.

PMID:
17517686
12.

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.

13.

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
14.

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.

15.

Disruption of a novel regulatory locus results in decreased Bdnf expression, obesity, and type 2 diabetes in mice.

Sha H, Xu J, Tang J, Ding J, Gong J, Ge X, Kong D, Gao X.

Physiol Genomics. 2007 Oct 22;31(2):252-63.

16.

A functional network module for Smith-Magenis syndrome.

Girirajan S, Truong HT, Blanchard CL, Elsea SH.

Clin Genet. 2009 Apr;75(4):364-74. doi: 10.1111/j.1399-0004.2008.01135.x.

PMID:
19236431
17.

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.

18.

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.

19.

Diminished hypothalamic bdnf expression and impaired VMH function are associated with reduced SF-1 gene dosage.

Tran PV, Akana SF, Malkovska I, Dallman MF, Parada LF, Ingraham HA.

J Comp Neurol. 2006 Oct 10;498(5):637-48.

PMID:
16917842
20.

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.

Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.

J Med Genet. 2010 Apr;47(4):223-9. doi: 10.1136/jmg.2009.068072.

PMID:
19752160
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