| 1 | SIM1
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| Genetic variation in the SIM1 locus is associated with erectile dysfunction.
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| Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK.
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| Proc Natl Acad Sci U S A roc Natl Acad Sci U S A. 2018 Oct 8. pii: 201809872. doi: 10.1073/pnas.1809872115. [Epub ahead of print]
2018
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| 2 | MC4R, SIM1
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| Sim1 Neurons Are Sufficient for MC4R-Mediated Sexual Function in Male Mice.
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| Semple E, Hill JW.
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| Endocrinology 159(1):439-449. doi: 10.1210/en.2017-00488.
2018
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| 3 | SIM1
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| Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.
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| Stanikova D, Buzga M, Krumpolec P, Skopkova M, Surova M, Ukropcova B, Ticha L, Petrasova M, Gabcova D, Huckova M, Piskorova L, Bozensky J, Mokan M, Ukropec J, Zavacka I, Klimes I, Stanik J, Gasperikova D.
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| PLoS One 12(5):e0177222. doi: 10.1371/journal.pone.0177222. eCollection 2017.
2017
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| 4 | SIM1
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| Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.
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| Stanikova D, Buzga M, Krumpolec P, Skopkova M, Surova M, Ukropcova B, Ticha L, Petrasova M, Gabcova D, Huckova M, Piskorova L, Bozensky J, Mokan M, Ukropec J, Zavacka I, Klimes I, Stanik J, Gasperikova D.
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| PLoS One 12(5):e0177222. doi: 10.1371/journal.pone.0177222. eCollection 2017.
2017
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| 5 | AHR, ARNT, ARNT2, MAGED1, SIM1, SIM2
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| MAGED1 is a novel regulator of a select subset of bHLH PAS transcription factors.
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| Sullivan AE, Peet DJ, Whitelaw ML.
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| FEBS J 283(18):3488-502. doi: 10.1111/febs.13824. Epub 2016 Aug 18.
2016
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| 6 | DEL6QP, MRAP2, SIM1
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| Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
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| Geets E, Zegers D, Beckers S, Verrijken A, Massa G, Van Hoorenbeeck K, Verhulst S, Van Gaal L, Van Hul W.
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| Mol Genet Metab. Mar;117(3):383-8. doi: 10.1016/j.ymgme.2016.01.003. Epub 2016 Jan 9 2016
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| 7 | SIM1
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| Sim1 inhibits bone formation by enhancing the sympathetic tone in male mice.
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| Wang X, Wei W, Zinn AR, Wan Y.
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| Endocrinology 156(4):1408-15. doi: 10.1210/en.2014-1872. Epub 2015 Jan 21.
2015
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| 8 | SIM1
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| Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
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| 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.
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| Eur J Hum Genet 23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.
2015
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| 9 | SIM1
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| Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
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| Montagne L, Raimondo A, Delobel B, Duban-Bedu B, Noblet FS, Dechaume A, Bersten DC, Meyre D, Whitelaw ML, Froguel P, Bonnefond A.
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| Obesity (Silver Spring) 22(12):2621-4. doi: 10.1002/oby.20886. Epub 2014 Sep 19.
2014
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| 10 | ARNT2, SIM1
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| Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.
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| Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML.
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| Biochem J 461(3):403-12. doi: 10.1042/BJ20131618.
2014
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| 11 | SIM1
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| Functional characterization of SIM1-associated enhancers.
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| Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N.
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| Hum Mol Genet 23(7):1700-8. doi: 10.1093/hmg/ddt559. Epub 2013 Nov 7.
2014
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| 12 | BDNF, DEL2P25, SIM1, TRKB
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| Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.
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| D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP.
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| Am J Med Genet A 161(3):479-86. doi: 10.1002/ajmg.a.35761. Epub 2013 Feb 7.
2013
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| 13 | SIM1
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| Paraventricular nucleus Sim1 neuron ablation mediated obesity is resistant to high fat diet.
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| Xi D, Roizen J, Lai M, Gandhi N, Kublaoui B.
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| PLoS One 8(11):e81087. doi: 10.1371/journal.pone.0081087. eCollection 2013. Erratum in: PLoS One. 2014 Jan 6;9(1):.
2013
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| 14 | DEL6QP, SIM1
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| Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
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| Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A.
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| Am J Med Genet A 161A(12):3137-43. doi: 10.1002/ajmg.a.36149. Epub 2013 Aug 16.
2013
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| 15 | ARNT2, SIM1
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| Sim1a and Arnt2 contribute to hypothalamo-spinal axon guidance by regulating Robo2 activity via a Robo3-dependent mechanism.
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| Schweitzer J, Löhr H, Bonkowsky JL, Hübscher K, Driever W.
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| Development 140(1):93-106. doi: 10.1242/dev.087825.
2013
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| 16 | DEL6QP, SIM1
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| Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
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| Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG.
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| Neurogenetics 13(1):31-47. Epub 2012 Jan 5.
2012
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| 17 | BDNF, DEL16P112D, DEL16P112P, SIM1, TRKB
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| Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.
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| D'Angelo CS, Koiffmann CP.
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| J Obes 2012:845480. doi: 10.1155/2012/845480. Epub 2012 Dec 17.
2012
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| 18 | MAD2L2, SIM1
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| A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B.
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| Meng X, Tian X, Wang X, Gao P, Zhang C.
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| Neurogenetics 13(3):251-60. doi: 10.1007/s10048-012-0333-x. Epub 2012 Jun 2.
2012
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| 19 | SIM1
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| Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression.
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| Tolson KP, Gemelli T, Gautron L, Elmquist JK, Zinn AR, Kublaoui BM.
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| J Neurosci 30(10):3803-12.PMID: 20220015 2010
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| 20 | ARNT2, HD, POU3F2, SIM1
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| Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction.
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| Yamanaka T, Tosaki A, Miyazaki H, Kurosawa M, Furukawa Y, Yamada M, Nukina N.
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| Hum Mol Genet 19(11):2099-112. Epub 2010 Feb 25.PMID: 20185558 2010
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| 21 | DEL6QP, SIM1
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| Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
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| Wentzel C, Lynch SA, Stattin EL, Sharkey FH, Annerén G, Thuresson AC.
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| Mol Syndromol 1(2):75-81. Epub 2010 Jun 9.PMID: 21045960 2010
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| 22 | SIM1
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| Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus.
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| Duplan SM, Boucher F, Alexandrov L, Michaud JL.
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| Eur J Neurosci 30(12):2239-49. Epub 2009 Dec 10.PMID: 20092567 2009
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| 23 | SIM1
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| Neural protein Olig2 acts upstream of the transcriptional regulator Sim1 to specify diencephalic dopaminergic neurons.
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| Borodovsky N, Ponomaryov T, Frenkel S, Levkowitz G.
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| Dev Dyn 238(4):826-34.PMID: 19253397 2009
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| 24 | MECP2, SIM1
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| Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.
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| Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY.
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| Neuron 59(6):947-58.
2008
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| 25 | DEL6QP, SIM1
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| Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
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| Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O.
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| Eur J Hum Genet 16(12):1443-9. Epub 2008 Jul 23.
2008
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| 26 | SIM1
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| Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice.
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| Kublaoui BM, Gemelli T, Tolson KP, Wang Y, Zinn AR.
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| Mol Endocrinol 22(7):1723-34. Epub 2008 May 1.
2008
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| 27 | DEL6QP, SIM1
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| A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
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| Varela MC, Simoes-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP.
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| Eur J Med Genet 49(4):298-305. Epub 2006 Jan 4. 2006
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| 28 | SIM1, SIM2
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| A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2.
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| Yamaki A, Kudoh J, Shimizu N, Shimizu Y.
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| Biochem Biophys Res Commun 313(3):482-8. 2004
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| 29 | SIM1, DEL6QP
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| Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
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| Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Genevieve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M.
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| J Med Genet 39(8):594-6. No abstract available. 2002
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| 30 | SIM1, DEL6QP
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| Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.
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| Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Levy E, Mitchell GA, Himms-Hagen J, Fan CM.
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| Hum Mol Genet 10(14):1465-73. 2001
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| 31 | SIM1
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| Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
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| Holder JL Jr, Butte NF, Zinn AR.
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| Hum Mol Genet 9(1):101-8 2000
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| 32 | SIM1, SIM2
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| Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.
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| Chrast R, Scott HS, Chen H, Kudoh J, Rossier C, Minoshima S, Wang Y, Shimizu N, Antonarakis SE.
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| Genome Res 7(6):615-24. 1997
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| 33 | SIM1, SIM2
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| Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein.
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| Probst MR, et al.
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| J Biol Chem 272 : 4451-4457. 1997
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