A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 7, 2001, Pages 3448-3451

  Mergen, Mehmet ^a   Mergen, Hatice ^b   Ozata, Metin ^a   Oner, Reyhan ^b   Oner, Cihan ^b  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

MELANOCORTIN 4 RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSTHYMIA; FEMALE; GENE MUTATION; HUMAN; HYPERPHAGIA; MALE; MANIC DEPRESSIVE PSYCHOSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; OBESITY; PRIORITY JOURNAL;

BLOOD GLUCOSE; BODY MASS INDEX; CONSANGUINITY; DIABETES MELLITUS; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INSULIN; MALE; MIDDLE AGED; MUTATION; OBESITY; OBESITY, MORBID; PEDIGREE; RECEPTOR, MELANOCORTIN, TYPE 4; RECEPTORS, CORTICOTROPIN; TURKEY;

EID: 0034913118     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.7.3448     Document Type: Article

References (26)

1. Obesity, diabetes and functions for proopiomelanocortin-derived peptides
2. Role of melanocortigenic neurons in feeding and the agouti obesity syndrome
3. Antagonizm of central melanocortin receptors in vitro and in vivo by agouiti-related protein
4. Targeted disruption of the melanocortin 4 receptor results in obesity in mice
5. Role of the melanocortin-4 receptor in metabolic rate and food intake in mice
6. Selective antagonist for the melanocortin 4 receptor (HSO14) increases food intake in free-feeding rats
7. Evidence for involvement of the melanocortin MC4 receptor in the effect of leptin on food intake and body weight
8. The melanocortin 4 receptor mediates leptin stimulation of luteinizing hormone and prolactin surges in steroid-primed ovariectomized rats
9. A frameshift mutation in MC4R associated with dominantly inherited human obesity
10. A frameshift mutation in human MC4R is associated with a dominant form of obesity
11. Identification and functional analysis of novel human melanocortin 4 receptor variants
12. Several mutations in the MC4R gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans
13. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency
14. Melanocortin 4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
15. A leptin missense mutation associated with hypogonadism and morbid obesity
16. Human leptin deficiency caused by a missense mutation: Multiple endocrine defects, decreased sympathetic tone and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin and spontaneous correction of leptin mediated defects
17. A safer and relatively shorter method for southern blot hybridization analysis
18. Body fat accumulation is possibly responsible for lower dehydroepiandrosterone circulating levels in premenopausal obese women
19. Increased parathyroid hormone as a consequence of changed complex binding of plasma calcium in morbid obesity
20. On the relationship between mineral metabolism, obesity and fat distribution
21. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
22. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
23. Low body mass index is an important risk factor for low bone mass and increased bone loss in early postmenopausal women
24. Effects of weight and body mass index on bone mineral density in mice and women: The Framingham study
25. Leptin inhibits bone formation through a hypothalamic relay: A central control of bone mass
26. Fine mapping provides further linkage evidence for a bipolar disorder susceptibility locus on 13q32