|
Obesity, Morbid
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Even a partial reduction in MC4R expression levels in mice, rats or humans produces hyperphagia and morbid obesity.
|
30561082 |
2019 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Melanocortin receptor 4 (MC4R) is expressed in key brain regions, and MC4R gene mutations can cause severe obesity.
|
29501261 |
2018 |
|
Obesity, Morbid
|
0.400 |
Biomarker
|
disease |
BEFREE |
MC4R haploinsufficiency clearly segregates with higher BMI; however, severe obesity is not fully penetrant even in MC4R LOF carriers, suggesting critical roles for environmental and lifestyle factors in MC4R monogenic obesity.
|
29991773 |
2018 |
|
Obesity, Morbid
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic defects underlying the melanocortin-4 receptor (MC4R) signaling pathway lead to severe obesity.
|
29736023 |
2018 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Specifically, mutations in MC4R, the melanocortin-4 receptor gene, account for 3-5% of all severe obesity cases in humans<sup>1-3</sup>.
|
29311635 |
2018 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the Impact of Common Polymorphisms of the FTO and MC4R Genes with the Risk of Severe Obesity in Saudi Arabian Population.
|
29466028 |
2018 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss of function (LoF) mutations in the MC4R pathway, including mutations in the pro-opiomelanocortin (POMC), prohormone convertase 1 (PCSK1), leptin receptor (LEPR), or MC4R genes, have been shown to cause early-onset severe obesity.
|
29726959 |
2018 |
|
Obesity, Morbid
|
0.400 |
Biomarker
|
disease |
CTD_human |
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
|
29273807 |
2018 |
|
Obesity, Morbid
|
0.400 |
Biomarker
|
disease |
CTD_human |
Specifically, mutations in MC4R, the melanocortin-4 receptor gene, account for 3-5% of all severe obesity cases in humans<sup>1-3</sup>.
|
29311635 |
2018 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MC4R cause early-onset severe obesity.
|
28284973 |
2017 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we have reported a novel mutation in MC4R in a family of Italian patients with severe obesity.
|
27706562 |
2016 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among 73 children with severe obesity (BMI SDS > 3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants.
|
26179253 |
2015 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gene variants in MC4R, SIRT1 and FTO are associated with severe obesity and metabolic impairment in Caucasians.
|
24675148 |
2014 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel c.216C>A (N72 K) homozygous mutation in MC4R in a girl with severe obesity.
|
25163632 |
2014 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MC4R defects lead to a severe clinical phenotype with lack of satiety and early-onset severe obesity.
|
23774329 |
2014 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Overall, this study suggest that S127L may be the most frequent functional MC4R mutation leading to the severe obesity in general population and provides new insight into the functionality of population based variants of the MC4R.
|
24385306 |
2014 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Melanocortin 4 receptor (MC4R) is a key factor in regulating energy homeostasis, and null mutations occurring in the gene encoding MC4R cause severe early-onset morbid obesity in humans.
|
24780838 |
2014 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Of note, mutations in the melanocortin 4 receptor gene (MC4R) have been identified in patients with morbid obesity.
|
23124548 |
2013 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have assessed the incidence of LEP and MC4R mutations and associated hormonal profiles, in a cohort of randomly selected Pakistani children with early onset of severe obesity.
|
22463805 |
2012 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The contribution of MC4R coding mutations to severe obesity in the high-obesity prone Greek population has not been investigated to date.
|
22447289 |
2012 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously unreported heterozygous mutations (P272L, N74I) in two patients inherited from their obese mothers.
|
23251400 |
2012 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that rare heterozygous mutations in the coding sequence of MC4R account for some severe obesity cases in the Dutch population.
|
20966905 |
2011 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The objectives of this study were to determine if mutations impairing the function of MC4R or MC3R were associated with severe obesity in North American adults.
|
19091795 |
2009 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fifty-one unrelated probands with early onset severe obesity (body mass index (BMI) > 99th percentile; 21 girls, mean age 10.6 +/- 3.6 years) were analyzed for nucleotide variations in the MC4R coding region, by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method followed by direct DNA sequencing.
|
19214805 |
2009 |
|
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Several mutations in the melanocortin receptor 4 gene have been identified in humans and account for 3-6% of morbid obesity.
|
18231126 |
2008 |