Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity

(2009) Nicola Santoro et al.   BMC Medical Genetics

Mutations in the Melanocortin 4 Receptor (MC4R) Gene in Obese Patients in Norway

(2009) T. Wangensteen et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Comprehensive in silico mutagenesis highlights functionally important residues in proteins

(2008) Y. Bromberg et al.   BIOINFORMATICS

SNAP predicts effect of mutations on protein function

(2008) Yana Bromberg et al.   BIOINFORMATICS

Intracellular Retention of Human Melanocortin-4 Receptor: A Molecular Mechanism Underlying Early-onset Obesity in F261S Pedigree of Chinese

(2008) Qi-Chen FANG et al.   BIOMEDICAL AND ENVIRONMENTAL SCIENCES

Novel melanocortin 4 receptor gene mutations in severely obese children

(2008) Yung Seng Lee et al.   CLINICAL ENDOCRINOLOGY

Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees

(2008) F. Stutzmann et al.   DIABETES

Sporadic mutations in melanocortin receptor 3 in morbid obese individuals

(2008) Monica Mencarelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study

(2008) M. A. Calton et al.   HUMAN MOLECULAR GENETICS

Successful overweight prevention in adolescents by increasing physical activity: a 4-year randomized controlled intervention

(2008) C Simon et al.   INTERNATIONAL JOURNAL OF OBESITY

Common variants near MC4R are associated with fat mass, weight and risk of obesity

(2008) Ruth J F Loos et al.   NATURE GENETICS

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

(2008) Gudmar Thorleifsson et al.   NATURE GENETICS

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS