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Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians


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

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly …

- 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

Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation …

- 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

Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: …

- 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

A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans

- endojournals.org
C Lubrano-Berthelier, C Le Stunff, P … - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc
As a mediator of the effects of leptin, the melanocortin-4 receptor (MC4R) is an
essential component of the central regulation of long-term energy homeostasis.
Heterozygous mutations in this receptor are the most frequent genetic cause ...
Cited by 42 - Related articles - BL Direct - All 4 versions

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a …


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

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm …

- 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

A novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese …


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

Functional characterization of melanocortin-4 receptor mutations associated with childhood …

- 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

Prevalence of mutations and functional analyses of melanocortin 4 receptor variants …

- endojournals.org
LH Larsen, SM Echwald, TIA Sorensen, T … - Journal of Clinical Endocrinology & Metabolism, 2005 - Endocrine Soc
Mutations in the gene encoding the melanocortin 4 receptor (MC4R) are associated
with the most common monogenic form of obesity. We examined 750 Danish men with
juvenile-onset obesity (body mass index 33.3 ± 2.4 kg/m 2 ) and 706 ...
Cited by 69 - Related articles - All 6 versions


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