- ►fu-berlin.de [PDF] H Biebermann, H Krude, A Elsner, V Chubanov … - Diabetes, 2003 - Am Diabetes Assoc Mutations in the melanocortin-4 receptor (MC4R) gene are the most frequent
monogenic causes of severe obesity. Most mutations have been described as
heterozygous with loss of function, suggesting that haploinsufficiency is ... Cited by 44 - Related articles - BL Direct - All 8 versions
- ►endojournals.org PA Donohoue, YX Tao, M Collins, GSH Yeo, S … - Journal of Clinical Endocrinology & Metabolism, 2003 - Endocrine Soc Genetic and pharmacological studies have shown that the melanocortin-4 receptor
(MC4R) is an important regulator of food intake and energy homeostasis.
Consistent with these studies, several mutations of the MC4R gene have been ... Cited by 30 - Related articles - BL Direct - All 8 versions
- ►endojournals.org YX Tao, DL Segaloff - Endocrinology, 2003 - Endocrine Soc The melanocortin-4 receptor (MC4R) is a member of the rhodopsin-like G
protein-coupled receptor family. The binding of -MSH to the MC4R leads to
increased cAMP production. Recent pharmacological and genetic studies have ... Cited by 58 - Related articles - BL Direct - All 9 versions
WAJ Nijenhuis, KM Garner, RJ van Rozen, … - Journal of Biological Chemistry, 2003 - ASBMB The melanocortin-4 receptor (MC4R) plays an important role in the regulation of
body weight in rodents. Mutations in the coding region of the MC4R are found
more frequently in obese individuals, supporting the hypothesis that also ... Cited by 58 - Related articles - BL Direct - All 4 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 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
H Kobayashi, Y Ogawa, M Shintani, K Ebihara, … - Diabetes, 2002 - Am Diabetes Assoc The melanocortin-4 receptor (MC4R) is a member of the seven membrane–spanning
G protein–coupled receptor superfamily and signals through the activation of
adenylyl cyclase. The MC4R mutations are the most common known monogenic ... Cited by 53 - Related articles - BL Direct - All 4 versions
- ►endojournals.org YX Tao, DL Segaloff - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc Although melanocortin-4 receptor mutations are the cause of the most common
monogenic form of obesity, the involvement of the melanocortin-3 receptor (MC3R)
in the pathogenesis of obesity is unknown. Earlier studies failed to ... Cited by 25 - Related articles - BL Direct - All 8 versions
P Tarnow, T Schoneberg, H Krude, A Gruters … - Journal of Biological Chemistry, 2003 - ASBMB By screening patients with severe early onset obesity for mutations within the
melanocortin 4 receptor (MC4R) gene, we have identified a missense mutation
(C271R) that occurs homozygous in two siblings with obesity. In-depth ... Cited by 26 - Related articles - BL Direct - All 6 versions
