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Items: 1 to 20 of 105

1.

Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS.

J Clin Invest. 2013 Jul;123(7):3042-50. doi: 10.1172/JCI68016. Epub 2013 Jun 17. Erratum in: J Clin Invest. 2013 Aug 1;123(8):3635. Datta, Vippan [corrected to Datta, Vipan].

2.

Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.

Zegers D, Beckers S, Hendrickx R, Van Camp JK, de Craemer V, Verrijken A, Van Hoorenbeeck K, Verhulst SL, Rooman RP, Desager KN, Massa G, Van Gaal LF, Van Hul W.

Int J Obes (Lond). 2014 Jul;38(7):1000-4. doi: 10.1038/ijo.2013.188. Epub 2013 Oct 7.

PMID:
24097297
3.

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.

Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P.

J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17.

4.

Studies of the SIM1 gene in relation to human obesity and obesity-related traits.

Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'Rahilly S, Farooqi IS.

Int J Obes (Lond). 2007 Mar;31(3):429-34. Epub 2006 Aug 22.

PMID:
16924270
5.

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.

Holder JL Jr, Butte NF, Zinn AR.

Hum Mol Genet. 2000 Jan 1;9(1):101-8.

PMID:
10587584
6.

Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice.

Kublaoui BM, Gemelli T, Tolson KP, Wang Y, Zinn AR.

Mol Endocrinol. 2008 Jul;22(7):1723-34. doi: 10.1210/me.2008-0067. Epub 2008 May 1.

7.

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.

Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML.

Biochem J. 2014 Aug 1;461(3):403-12. doi: 10.1042/BJ20131618.

PMID:
24814368
8.

Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression.

Tolson KP, Gemelli T, Gautron L, Elmquist JK, Zinn AR, Kublaoui BM.

J Neurosci. 2010 Mar 10;30(10):3803-12. doi: 10.1523/JNEUROSCI.5444-09.2010.

9.

Replication and extension of association between common genetic variants in SIM1 and human adiposity.

Swarbrick MM, Evans DS, Valle MI, Favre H, Wu SH, Njajou OT, Li R, Zmuda JM, Miljkovic I, Harris TB, Kwok PY, Vaisse C, Hsueh WC.

Obesity (Silver Spring). 2011 Dec;19(12):2394-403. doi: 10.1038/oby.2011.79. Epub 2011 Apr 21.

10.

Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons.

Kublaoui BM, Holder JL Jr, Gemelli T, Zinn AR.

Mol Endocrinol. 2006 Oct;20(10):2483-92. Epub 2006 May 25.

PMID:
16728530
11.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

12.

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

Kublaoui BM, Holder JL Jr, Tolson KP, Gemelli T, Zinn AR.

Endocrinology. 2006 Oct;147(10):4542-9. Epub 2006 May 18.

PMID:
16709610
13.

Paraventricular nucleus Sim1 neuron ablation mediated obesity is resistant to high fat diet.

Xi D, Roizen J, Lai M, Gandhi N, Kublaoui B.

PLoS One. 2013 Nov 19;8(11):e81087. doi: 10.1371/journal.pone.0081087. eCollection 2013.

14.

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.

Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Lévy E, Mitchell GA, Himms-Hagen J, Fan CM.

Hum Mol Genet. 2001 Jul 1;10(14):1465-73.

PMID:
11448938
15.

Ablation of Sim1 neurons causes obesity through hyperphagia and reduced energy expenditure.

Xi D, Gandhi N, Lai M, Kublaoui BM.

PLoS One. 2012;7(4):e36453. doi: 10.1371/journal.pone.0036453. Epub 2012 Apr 27.

16.

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.

Geets E, Zegers D, Beckers S, Verrijken A, Massa G, Van Hoorenbeeck K, Verhulst S, Van Gaal L, Van Hul W.

Mol Genet Metab. 2016 Mar;117(3):383-8. doi: 10.1016/j.ymgme.2016.01.003. Epub 2016 Jan 9.

PMID:
26795956
17.

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.

Montagne L, Raimondo A, Delobel B, Duban-Bedu B, Noblet FS, Dechaume A, Bersten DC, Meyre D, Whitelaw ML, Froguel P, Bonnefond A.

Obesity (Silver Spring). 2014 Dec;22(12):2621-4. doi: 10.1002/oby.20886. Epub 2014 Sep 19.

18.

Glutamate mediates the function of melanocortin receptor 4 on Sim1 neurons in body weight regulation.

Xu Y, Wu Z, Sun H, Zhu Y, Kim ER, Lowell BB, Arenkiel BR, Xu Y, Tong Q.

Cell Metab. 2013 Dec 3;18(6):860-70. doi: 10.1016/j.cmet.2013.11.003.

19.

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.

Hainerová I, Larsen LH, Holst B, Finková M, Hainer V, Lebl J, Hansen T, Pedersen O.

J Clin Endocrinol Metab. 2007 Sep;92(9):3689-96. Epub 2007 Jun 19.

PMID:
17579204
20.

Inducible neuronal inactivation of Sim1 in adult mice causes hyperphagic obesity.

Tolson KP, Gemelli T, Meyer D, Yazdani U, Kozlitina J, Zinn AR.

Endocrinology. 2014 Jul;155(7):2436-44. doi: 10.1210/en.2013-2125. Epub 2014 Apr 28.

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