Melanocortin-Rezeptor 4
Das MC4R-Gen kodiert ein G-Protein gekoppelten Melanocortin-Rezeptor, der auch ACTH binden kann. Mutationen führen zu autosomal dominanter Fettsucht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Valli-Jaakola K et al. (2004) Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.
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2. |
Brocke KS et al. (2002) The human intronless melanocortin 4-receptor gene is NMD insensitive.
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3. |
Heisler LK et al. (2002) Activation of central melanocortin pathways by fenfluramine.
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4. |
Van der Ploeg LH et al. (2002) A role for the melanocortin 4 receptor in sexual function.
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5. |
Jacobson P et al. (2002) Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.
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6. |
Lubrano-Berthelier C et al. (2003) Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
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7. |
Yeo GS et al. (2003) Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
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8. |
Nijenhuis WA et al. (2003) Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
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9. |
Xu B et al. (2003) Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor.
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10. |
Hinney A et al. (2003) Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
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11. |
Donohoue PA et al. (2003) Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.
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12. |
Santini F et al. (2004) Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.
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13. |
Dubern B et al. (2001) Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.
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14. |
Lubrano-Berthelier C et al. (2004) A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.
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15. |
Larsen LH et al. (2005) Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
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16. |
Tao YX et al. (2005) Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.
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17. |
Balthasar N et al. (2005) Divergence of melanocortin pathways in the control of food intake and energy expenditure.
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18. |
Hinney A et al. (2006) Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.
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19. |
Lubrano-Berthelier C et al. (2006) Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
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20. |
Hainerová I et al. (2007) Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.
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21. |
Mineur YS et al. (2011) Nicotine decreases food intake through activation of POMC neurons.
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22. |
Lim BK et al. (2012) Anhedonia requires MC4R-mediated synaptic adaptations in nucleus accumbens.
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23. |
Ghamari-Langroudi M et al. (2015) G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.
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24. |
Ste Marie L et al. (2000) A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors.
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25. |
Sina M et al. (1999) Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene.
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26. |
Farooqi IS et al. (2003) Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
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27. |
Branson R et al. (2003) Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.
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28. |
List JF et al. (2003) Defective melanocortin 4 receptors in hyperphagia and morbid obesity.
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29. |
Hebebrand J et al. (2004) Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.
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30. |
Chambers JC et al. (2008) Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
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31. |
Loos RJ et al. (2008) Common variants near MC4R are associated with fat mass, weight and risk of obesity.
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32. |
Willer CJ et al. (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
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33. |
Hardy R et al. (2010) Life course variations in the associations between FTO and MC4R gene variants and body size.
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34. |
Magenis RE et al. (1994) Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.
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35. |
Gantz I et al. (1993) Molecular cloning, expression, and gene localization of a fourth melanocortin receptor.
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36. |
Huszar D et al. (1997) Targeted disruption of the melanocortin-4 receptor results in obesity in mice.
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37. |
Sundaramurthy D et al. (1998) Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping.
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38. |
Yeo GS et al. (1998) A frameshift mutation in MC4R associated with dominantly inherited human obesity.
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39. |
Vaisse C et al. (1998) A frameshift mutation in human MC4R is associated with a dominant form of obesity.
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40. |
Marsh DJ et al. (1999) Response of melanocortin-4 receptor-deficient mice to anorectic and orexigenic peptides.
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41. |
Hinney A et al. (1999) Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
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42. |
Cody JD et al. (1999) Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q.
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43. |
Kim KS et al. (2000) A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits.
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44. |
Cummings DE et al. (2000) Melanocortins and body weight: a tale of two receptors.
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45. |
Chen AS et al. (2000) Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass.
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46. |
Mergen M et al. (2001) A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.
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47. |
NCBI article
NCBI 4160
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48. |
OMIM.ORG article
Omim 155541
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49. |
Orphanet article
Orphanet ID 168091
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50. |
Wikipedia Artikel
Wikipedia DE (Melanocortin-4-Rezeptor)
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Update: 14. August 2020