Studies of the SIM1 gene in relation to human obesity and obesity-related traits (2024)

1. Fan CM, Kuwana E, Bulfone A, Fletcher CF, Copeland NG, Jenkins NA et al. Expression patterns of two murine hom*ologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome. Mol Cell Neurosci 1996; 7: 1–16.

   Article CAS Google Scholar

2. Michaud JL, Rosenquist T, May NR, Fan CM . Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1. Genes Dev 12; 1998: 3264–3275.

   Google Scholar

3. Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Levy E et al. Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. Hum Mol Genet 2001; 10: 1465–1473.

   Article CAS Google Scholar

4. Holder Jr JL, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH et al. Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab 2004; 287: E105–E113.

   Article CAS Google Scholar

5. Holder Jr JL, Butte NF, Zinn AR . Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet 2000; 9: 101–108.

   Article CAS Google Scholar

6. Turleau C, Demay G, Cabanis MO, Lenoir G, de Grouchy J . 6q1 monosomy: a distinctive syndrome. Clin Genet 1988; 34: 38–42.

   Article CAS Google Scholar

7. Villa A, Urioste M, Bofarull JM, Martinez-Frias ML . De novo interstitial deletion q16.2q21 on chromosome 6. Am J Med Genet 1995; 55: 379–383.

   Article CAS Google Scholar

8. Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreels FJ . Interstitial 6q deletion with a Prader–Willi-like phenotype: a new case and review of the literature. Eur J Paediatr Neurol 2000; 4: 39–43.

   Article CAS Google Scholar

9. Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Genevieve D et al. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader–Willi-like phenotype. J Med Genet 2002; 39: 594–596.

   Article CAS Google Scholar

10. Cole TJ, Freeman JV, Preece MA . British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood. Stat Med 1998; 17: 407–429.

    Article CAS Google Scholar

11. Williams DR, Wareham NJ, Brown DC, Byrne CD, Clark PM, Cox BD et al. Undiagnosed glucose intolerance in the community: the Isle of Ely Diabetes Project. Diabetes Med 1995; 12: 30–35.

    Article Google Scholar

12. Wareham NJ, Byrne CD, Williams R, Day NE, Hales CN . Fasting proinsulin concentrations predict the development of type 2 diabetes. Diabetes Care 1999; 22: 262–270.

    Article CAS Google Scholar

13. Chrast R, Scott HS, Chen H, Kudoh J, Rossier C, Minoshima S et al. Cloning of two human hom*ologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region. Genome Res 1997; 7: 615–624.

    Article CAS Google Scholar

14. Erbel P J, Card PB, Karakuzu O, Bruick RK, Gardner KH . Structural basis for PAS domain heterodimerization in the basic helix–loop–helix-PAS transcription factor hypoxia-inducible factor. Proc Natl Acad Sci USA 2003; 100: 15504–15509.

    Article Google Scholar

15. Atwood LD, Heard-Costa NL, Cupples LA, Jaquish CE, Wilson PW, D'Agostino RB . Genomewide linkage analysis of body mass index across 28 years of the Framingham Heart Study. Am J Hum Genet 2002; 71: 1044–1050.

    Article CAS Google Scholar

16. Meyre D, Lecoeur C, Delplanque J, Francke S, Vatin V, Durand E et al. A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31–q23.2. Diabetes 2004; 53: 803–811.

    Article CAS Google Scholar

17. Duggirala R, Blangero J, Almasy L, Arya R, Dyer TD, Williams KL et al. A major locus for fasting insulin concentrations and insulin resistance on chromosome 6q with strong pleiotropic effects on obesity-related phenotypes in nondiabetic Mexican Americans. Am J Hum Genet 2001; 68: 1149–1164.

    Article CAS Google Scholar

18. Abney M, Ober C, McPeek MS . Quantitative-trait hom*ozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites. Am J Hum Genet 2002; 70: 920–934.

    Article CAS Google Scholar

19. Ghosh S, Watanabe RM, Valle TT, Hauser ER, Magnuson VL, Langefeld CD et al. The Finland–United States Investigation of Non-Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. Am J Hum Genet 2000; 67: 1174–1185.

    CAS PubMed PubMed Central Google Scholar

20. Ehm MG, Karnoub MC, Sakul H, Gottschalk K, Holt DC, Weber JL et al. Genomewide search for type 2 diabetes susceptibility genes in four American populations. Am J Hum Genet 2000; 66: 1871–1881.

    Article CAS Google Scholar

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