Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene
Top Cited Papers
Open Access
- 20 March 2003
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 348 (12), 1085-1095
- https://doi.org/10.1056/nejmoa022050
Abstract
Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of obesity. However, the clinical spectrum and mode of inheritance have not been defined, pathophysiological mechanisms leading to obesity are poorly understood, and there is little information regarding genotype–phenotype correlations.Keywords
This publication has 34 references indexed in Scilit:
- Exploring the molecular basis of Bardet-Biedl syndromeHuman Molecular Genetics, 2001
- Genetics of body-weight regulationNature, 2000
- Effects of Recombinant Leptin Therapy in a Child with Congenital Leptin DeficiencyNew England Journal of Medicine, 1999
- Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppressionNature, 1998
- A leptin missense mutation associated with hypogonadism and morbid obesityNature Genetics, 1998
- Congenital leptin deficiency is associated with severe early-onset obesity in humansNature, 1997
- Recombinant Mouse OB Protein: Evidence for a Peripheral Signal Linking Adiposity and Central Neural NetworksScience, 1995
- Weight-Reducing Effects of the Plasma Protein Encoded by the obese GeneScience, 1995
- Effects of the obese Gene Product on Body Weight Regulation in ob / ob MiceScience, 1995
- Positional cloning of the mouse obese gene and its human homologueNature, 1994