Autosomal dominant obesity is caused by mutations of the MC4R gene.
Obesity | ||||
Autosomal dominant obesity | ||||
MC4R | ||||
Body mass index quantitative trait | ||||
Early-onset obesity | ||||
Late-onset obesity | ||||
Severe obesity | ||||
Severe obesity and type 2 diabetes | ||||
Susceptibility to obesity | ||||
1. |
Ley RE et al. (2006) Microbial ecology: human gut microbes associated with obesity. |
2. |
Barsh GS et al. (2000) Genetics of body-weight regulation. |
3. |
Lowell BB et al. (2000) Towards a molecular understanding of adaptive thermogenesis. |
4. |
Dong C et al. (2003) Interacting genetic loci on chromosomes 20 and 10 influence extreme human obesity. |
5. |
Schadt EE et al. (2003) Genetics of gene expression surveyed in maize, mouse and man. |
6. |
Stenson PD et al. (2003) Human Gene Mutation Database (HGMD): 2003 update. |
7. |
None (2003) Genetic medicine and obesity. |
8. |
Ozcan U et al. (2004) Endoplasmic reticulum stress links obesity, insulin action, and type 2 diabetes. |
9. |
Osawa M et al. (2005) Association of alpha2-HS glycoprotein (AHSG, fetuin-A) polymorphism with AHSG and phosphate serum levels. |
10. |
Dong C et al. (2005) Possible genomic imprinting of three human obesity-related genetic loci. |
11. |
Bell CG et al. (2005) The genetics of human obesity. |
12. |
Lavebratt C et al. (2005) AHSG gene variant is associated with leanness among Swedish men. |
13. |
Sina M et al. (1999) Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. |
14. |
Turnbaugh PJ et al. (2006) An obesity-associated gut microbiome with increased capacity for energy harvest. |
15. |
Kryukov GV et al. (2007) Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. |
16. |
Ahituv N et al. (2007) Medical sequencing at the extremes of human body mass. |
17. |
Barness LA et al. (2007) Obesity: genetic, molecular, and environmental aspects. |
18. |
Bera TK et al. (2008) A model for obesity and gigantism due to disruption of the Ankrd26 gene. |
19. |
Chen Y et al. (2008) Variations in DNA elucidate molecular networks that cause disease. |
20. |
Spalding KL et al. (2008) Dynamics of fat cell turnover in humans. |
21. |
Qi L et al. (2008) The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women. |
22. |
Calton MA et al. (2009) Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. |
23. |
Renström F et al. (2009) Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden. |
24. |
Yang X et al. (2009) Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks. |
25. |
Paganini-Hill A et al. (1981) The S-leut anthropometric traits: genetic analysis. |
26. |
Bahary N et al. (1991) Molecular genetic linkage maps of mouse chromosomes 4 and 6. |
27. |
Dubern B et al. (2001) Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. |
28. |
Farooqi IS et al. (2003) Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. |
29. |
Branson R et al. (2003) Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. |
30. |
List JF et al. (2003) Defective melanocortin 4 receptors in hyperphagia and morbid obesity. |
31. |
Hebebrand J et al. (2004) Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations. |
32. |
Chambers JC et al. (2008) Common genetic variation near MC4R is associated with waist circumference and insulin resistance. |
33. |
Loos RJ et al. (2008) Common variants near MC4R are associated with fat mass, weight and risk of obesity. |
34. |
Willer CJ et al. (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. |
35. |
Jones JM et al. (1992) Localization of insulin-2 (Ins-2) and the obesity mutant tubby (tub) to distinct regions of mouse chromosome 7. |
36. |
Perry CA et al. (2008) Predisposition to late-onset obesity in GIRK4 knockout mice. |
37. |
Nishigori H et al. (2001) Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects. |
38. |
Andersen G et al. (2005) Evidence of an association between genetic variation of the coactivator PGC-1beta and obesity. |
39. |
Meyre D et al. (2009) Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. |
40. |
Moll PP et al. (1991) The genetic and environmental sources of body mass index variability: the Muscatine Ponderosity Family Study. |
41. |
Bahary N et al. (1990) Molecular mapping of the mouse db mutation. |
42. |
Bouchard C et al. (1990) The response to long-term overfeeding in identical twins. |
43. |
Hasstedt SJ et al. (1989) Recessive inheritance of a relative fat pattern. |
44. |
Roberts SB et al. (1988) Energy expenditure and intake in infants born to lean and overweight mothers. |
45. |
Ravussin E et al. (1988) Reduced rate of energy expenditure as a risk factor for body-weight gain. |
46. |
Zonta LA et al. (1987) Genetic analysis of human obesity in an Italian sample. |
47. |
Stunkard AJ et al. (1986) An adoption study of human obesity. |
48. |
Norman RA et al. (1997) Genomewide search for genes influencing percent body fat in Pima Indians: suggestive linkage at chromosome 11q21-q22. Pima Diabetes Gene Group. |
49. |
OMIM.ORG article Omim 601665 |