C Lubrano-Berthelier, M Cavazos, C Le Stunff … - Diabetes, 2003 - Am Diabetes Assoc Heterozygous mutations in the coding sequence of the serpentine melanocortin 4
receptor (MC4R) are the most frequent genetic cause of severe human obesity.
Since haploinsufficiency has been proposed as a causal mechanism of obesity ... Cited by 34 - Related articles - BL Direct - All 5 versions
- ►endojournals.org F Santini, M Maffei, G Ceccarini, C Pelosini, G … - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc Mutations in the human melanocortin-4 receptor (MC4-R) gene may account for up
to 5.8% of morbid nonsyndromic obesity. We have screened 120 unrelated obese
patients for variants of the MC4-R gene. Four heterozygous missense ... Cited by 33 - Related articles - BL Direct - All 6 versions
- ►endojournals.org P Jacobson, O Ukkola, T Rankinen, EE Snyder … - Journal of Clinical Endocrinology & Metabolism, 2002 - Endocrine Soc The prevalence of mutations within and in the flanking regions of the gene
encoding the melanocortin 4 receptor was investigated in severely obese and
normal-weight subjects from the Swedish Obese Subjects study, the Health, ... Cited by 93 - Related articles - BL Direct - All 6 versions
- ►endojournals.org A Hinney, T Bettecken, P Tarnow, H Brumm, K … - Journal of Clinical Endocrinology & Metabolism, 2006 - Endocrine Soc Context: Autosomal dominant inheritance of mutations in the melanocortin-4
receptor gene (MC4R) is currently regarded as the most relevant genetic cause
for extreme obesity and affects 2–4% of extremely obese individuals. Cited by 63 - Related articles - BL Direct - All 6 versions
- ►endojournals.org C Lubrano-Berthelier, B Dubern, JM Lacorte, F … - Journal of Clinical Endocrinology & Metabolism, 2006 - Endocrine Soc Context: Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene are
the most common monogenic form of severe obesity in children. There are
conflicting reports regarding the prevalence, nature, and pathogenic ... Cited by 63 - Related articles - BL Direct - All 5 versions
- ►endojournals.org K Valli-Jaakola, M Lipsanen-Nyman, L Oksanen … - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc Two Finnish cohorts, comprising 56 children with severe early-onset obesity
(relative weight for height greater than or equal to +70% before age 10) and 252
morbidly obese adults (body mass index, 40 kg/m 2 ), were screened for ... Cited by 52 - Related articles - BL Direct - All 6 versions
A Marti, MS Corbalan, L Forga, JA Martinez, … - International Journal of Obesity, 2003 - nature.com BACKGROUND: In recent years, several groups have reported dominant inheritance
of obesity conferred by missense, nonsense and frameshift mutations in the
melanocortin 4 receptor gene (MC4R). Hence, MC4R is involved in the most ... Cited by 38 - Related articles - BL Direct - All 4 versions
- ►endojournals.org A Hinney, S Hohmann, F Geller, C Vogel, C … - Journal of Clinical Endocrinology & Metabolism, 2003 - Endocrine Soc We initially performed a mutation screen of the coding region of the MC4R in 808
extremely obese children and adolescents and 327 underweight or normal-weight
controls allowing for a case-control study. A total of 16 different ... Cited by 96 - Related articles - BL Direct - All 4 versions
L Ma, PA Tataranni, C Bogardus, LJ Baier - Diabetes, 2004 - Am Diabetes Assoc Heterozygous coding mutations in the melanocortin 4 receptor gene (MC4R) are the
most common genetic causes of severe human obesity identified to date. To
determine whether MC4R has a role in causing severe obesity in Pima ... Cited by 33 - Related articles - BL Direct - All 4 versions
