|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
This receptor is a key protein in the hypothalamic regulation of food intake and energy expenditure and naturally-occurring inactivating <i>MC4R</i> variants are the most frequent cause of monogenic obesity.
|
31417496 |
2019 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in melanocortin receptor (MC4R) are the most common cause of monogenic obesity in children of European ancestry, but little is known about their prevalence in children from the minority populations in the United States.
|
30811542 |
2019 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in melanocortin-4-receptor (MC4R) gene are one of the most common cause of monogenic obesity, however, the functional effects of polymorphic variants near MC4R gene in general populations remain uncertain.
|
30945034 |
2019 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Pathogenic mutations in the appetite-regulating melanocortin-4 receptor (MC4R) represent the most common cause of monogenic obesity with limited treatment options.
|
29861388 |
2018 |
|
Monogenic Obesity
|
0.100 |
Biomarker
|
phenotype |
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 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed.
|
29568105 |
2018 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity.
|
28218067 |
2017 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Four cases (0.8%) of monogenic obesity were detected, all due to MC4R variants previously linked to monogenic obesity.
|
28377240 |
2017 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity.
|
27394708 |
2016 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the gene MC4R lead to the most common form of monogenic obesity.
|
25466298 |
2015 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the MC4R gene are the most common cause of monogenic obesity in humans, and a large literature indicates a role in regulating both energy intake through the control of satiety and energy expenditure.
|
23680515 |
2014 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the MC4R gene are the most common cause of monogenic obesity, and there are few studies on mutations in the promoter region.
|
24512492 |
2014 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity and an important contributor to polygenic obesity.
|
23147118 |
2013 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Variants in the melanocortin-4 receptor (MC4R) gene are the most frequent cause of monogenic obesity.
|
23146882 |
2012 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Melanocortin-4 receptor (MC4R) loss-of-function mutations are the commonest genetic cause of human monogenic obesity, so far.
|
22447289 |
2012 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Melanocortin-4 Receptor (MC4R) mutations, the most frequent known cause of monogenic obesity, affect the regulation of energy homeostasis.
|
23185251 |
2012 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans.
|
23251400 |
2012 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Extensive studies of the MC4R gene polymorphism showed that, among numerous variants, there are mutations responsible for monogenic obesity, as well as polymorphisms negatively correlated with the risk of obesity.
|
21404042 |
2011 |
|
Monogenic Obesity
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
A variant downstream from the melanocortin-4 receptor gene (MC4R), a gene known to be involved in monogenic obesity, was reported to be highly associated with BMI.
|
21303735 |
2011 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Melanocortin-4 receptor (MC4R) deficiency is the most common cause of monogenic obesity.
|
20975296 |
2010 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
In 1998, human genetic studies demonstrated that mutations in the MC4R gene can cause monogenic obesity.
|
20190196 |
2010 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Melanocortin-4-receptor (MC4R) haploinsufficiency is the most common form of monogenic obesity; however, the frequency of MC4R variants and their functional effects in general populations remain uncertain.
|
19889825 |
2010 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Clinical studies in humans showed that mutations in the MC4R gene are the most prevalent form of monogenic obesity.
|
20374728 |
2009 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Melanocortin-4 receptor (MC4R) (MIM 155541) gene polymorphisms were reported to be the cause of monogenic obesity in humans.
|
19184404 |
2009 |
|
Monogenic Obesity
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Heterozygous MC4R mutation is the most frequent cause of monogenic obesity.
|
20054175 |
2008 |