Property Summary

NCBI Gene PubMed Count 341
PubMed Score 884.64
PubTator Score 744.09

Knowledge Summary

Patent (70,078)

Expression

  Differential Expression (5)

Disease log2 FC p
astrocytic glioma -1.300 2.8e-02
ependymoma -1.600 2.7e-02
oligodendroglioma -1.600 1.3e-02
diabetes mellitus 1.100 2.2e-03
pituitary cancer 1.500 2.4e-02

MLP Assay (13)

AID Type Active / Inconclusive / Inactive Description
540295 screening 1704 / 0 / 354703 TRFRET-based cell-based primary high throughput screening assay to identify biased ligands of the melanocortin 4 receptor (MC4R): antagonists of MC4R
540307 summary 0 / 0 / 0 Summary of the probe development efforts to identify biased ligands of the melanocortin 4 receptor (MC4R): antagonists of MC4R
540308 screening 3476 / 0 / 352931 Luminescence-based cell-based primary high throughput screening assay to identify biased ligands of the melanocortin 4 receptor (MC4R): agonists of MC4R
540319 summary 0 / 0 / 0 Summary of the probe development efforts to identify biased ligands of the melanocortin 4 receptor (MC4R): agonists of MC4R
602192 screening 750 / 0 / 1649 Luminescence-based cell-based high throughput confirmation assay for biased ligands (agonists) of the melanocortin 4 receptor (MC4R)
602195 screening 430 / 0 / 1152 TRFRET-based cell-based high throughput confirmation assay for biased ligands (antagonists) of the melanocortin 4 receptor (MC4R)
602263 confirmatory 14 / 0 / 217 Luminescence-based cell-based high throughput dose response assay for biased ligands (agonists) of the melanocortin 4 receptor (MC4R)
602298 confirmatory 33 / 0 / 189 TRFRET-based cell-based high throughput dose response assay for biased ligands (antagonists) of the melanocortin 4 receptor (MC4R)
651547 confirmatory 0 / 0 / 15 Late-stage FRET-based cell-based primary screening assay to identify biased ligands of the melanocortin 4 receptor (MC4R): agonists of MC4R
651554 other 3 / 0 / 24 Late-stage FRET-based cell-based primary screening assay to identify biased ligands of the melanocortin 4 receptor (MC4R): antagonists of MC4R
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Gene RIF (355)

PMID Text
26965781 MC4R (melanocortin-4 receptor) rs17782313 gene polymorphism is associated with higher triglyceride levels in older Chinese women
26849546 Obese children carrying the FTO GG and/or the MC4R CC genotype lost more body weight in comparison to non-carriers from a lifestyle intervention.
26814590 Drawing on recent advances in neuroscience and genetic technologies, we consider the structure and function of the melanocortin-4 receptor circuitry and its role in energy homeostasis--{REVIEW}
26782456 this molecular analysis of a family-based study showed an autosomal dominant pattern. Our study indicated that MC4R variations in early-onset obese Thai children were found, and transmission of these variations in each family is in the dominant pattern
26680479 The MC4R variant (rs12970134) was associated with increased risk for obesity in Czech women.
26588347 Uncontrolled eating scores were higher in C-allele carriers of MC4R-rs17782313 compared to non-carriers.
26469516 Data show that co-expression with MRAPalpha, but not MRAP2, enhances MC4R constitutive activity. MRAPalpha-enhanced MC4R constitutive activity is not dependent on MC4R complex glycosylation but may result from MRAPalpha-induced changes in MC4R conformational states.
26244670 MC4R mutations contribute to the onset of obesity.
26238496 The age of obesity onset in the present child generation of MC4R mutation carriers is decreasing compared to the age of onset in their parents' generation.
26032905 The interaction between FTO and MC4R polymorphisms is associated with the development of PCOS.
25966591 Our study demonstrates the role of genetic variability in FTO and MC4R genes in obesity development in Tatar women from Russia.
25948074 The variant rs17782313 OF mc4r is associated with an increased risk of hypertriglyceridemia in obese children and adolescents
25919555 Five variants were identified in the coding region of MC4R gene, among which Val179Ala was newly identified
25871004 polymorphisms in thegene may be useful in identifying women at risk for osteoporosis.
25769385 MC4R rs17782313 was associated with high energy intake.
25753114 Solution structures of the transmembrane 2 domain of MC4R (MC4RTM2) were determined and compared secondary structure of Asp90 mutant (MC4RTM2-D90N) in a micelle environment by nuclear magnetic resonance (NMR) spectroscopy.
25637721 SEC16B, MC4R, MAP2K5 and KCTD15 (rs17782313, rs543874, rs2241423 and rs11084753) polymorphisms are associated with the risk for children obesity in China.
25503666 FTO homozygotes and FTO heterozygotes correspond to 18.0% and 45.9% of neonates, respectively. MC4R homozygotes and MC4R heterozygotes were identified in 6.7% and 36.3% of neonates, respectively
25501231 Data indicate that the SLC30A8 polymorphisms are associated with type 2 diabetes in the Saudi population but not for FTO, MC4R and KCNQ1 gene variants.
25446108 human agouti-related protein has a role in enhancing expression and stability of human melanocortin-4 receptor
25419636 The study showed that functional variants in the MC4R gene are more commonly found in obese individuals than in non-obese individuals with binge-eating episodes.
25402378 There is a synergistic effect of the high-risk alleles of the FTO and MC4R genes on the obese
25347793 Conformational changes in MC4R protein structure were elucidated with agonist-mediated receptor signaling.
25332687 Decreased basal or ligand-stimulated ERK1/2 signaling might contribute to obesity pathogenesis caused by mutations in the MC4R gene.
25115458 In a population of Caucasian schoolchildren, the rs12970134 MC4R variant was significantly associated with excess body weight, particularly in children older than 8 years of age
25103139 Common and rare variation in MC4R contributes to obesity in American Indians.
25062455 We identified differences in the striatal response to food cues between two groups of obese individuals, those with and those without MC4R mutations.
24943127 MC4R specifically inhibited the presynaptic N-type channel subtype, and this inhibition may be important for the effects of melanocortin in the central subdivision of the amygdala
24880622 rs17782313 near MC4R is associated with serum triglyceride levels in Asian population.
24827639 (MC4R) gene has been repeatedly linked to obesity and antipsychotic-induced weight gain, the mechanism behind how it leads to this effect in still undetermined
24820477 Study revealed a link between melanocortin-4 melanocortin-4 variants and obesity.
24705671 Subtle differences in receptor signaling conferred by rare MC4R variants combined with additional factors predispose carriers to obesity.
24611737 Novel variants discovered in the MC4R and LEPR genes among severely obese children from the Iberian population.
24518831 INSIG2 is involved in adipogenesis and MC4R effects hormonal appetite control in response to the amount of adipose tissue.
24516669 Genetic variation close to MC4R is associated with quantitative ultrasound and risk of fracture.
24512492 We have described, for the first time, two novel human MC4R gene promoter variants found in obese children that resulted in a decrease in basal transcriptional activity.
24385306 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.
24307561 No significant influence of the MC4R rs17782313 polymorphism on energy metabolism or biochemical variables in obese women.
24276017 Circulating BDNF does not directly reflect hypothalamic BDNF secretion and/or MC4R signaling is not a significant regulator of the bulk of BDNF expression in humans.
24151814 MC4R rs17782313 was associated with obesity and could confer a certain susceptibility to type 2 diabetes that could be independent of its pro-obesity effect
24139164 Our results provide evidence supporting the idea that the MC4R polymorphism rs17782313 appears to contribute to childhood obesity by affecting satiety responsiveness, enjoyment of food, and possibly eating in the absence of hunger.
24105491 MC4R mutation carriers differ from controls by higher consumption of carbohydrates counterbalanced by lower consumption of lipids expressed as percentage of total energy intake; however, functional MC4R mutations do not have a higher risk of compulsive eating
24091943 The interaction of FTO and MC4R polymorphisms showed a powerful association with breast cancer.
24066140 Common genetic variation near MC4R has a sex-specific impact on human brain structure and eating behavior
24040077 Data indicate that the effect of each MC4R single nucleotide polymorphisms (SNPs) rs17782313 risk allele on BMI in meal skippers was nearly three-fold compared with regular eater.
23920449 Confirm the MC4R rs489693 A-allele as a possible risk factor for second generation antipsychotic-related weight gain.
23895708 Two mutations in MC4R were identified and associated with severe obesity in Chinese individuals
23849767 Common genetic variants of FTO rs9939609 have positive associations with BMI and neck circumference and MC4R rs17782313 in women, but a negative association with diastolic and mean blood pressure in men with hypertension.
23762205 The amount of genetic variability seen to date at the DNA level accounts only for a small fraction of the inter-individual variability of BMI.
23740648 Carriers of MC4R mutations are expected to respond to bariatric surgery similarly to noncarriers, suggesting that the favorable effects of surgery on body weight are not mediated by MC4R activity variations.
23727064 POLI and MC4R nearby single nucleotide polymorphisms in human chromosome 18 are associated with a moderate risk of type 2 diabetes.
23512951 One MC4R variant was directly associated with obesity-related traits or diabetes; numerous other variants appear to influence body weight and diabetes risk by modifying the protective effects of the diabetes prevention program interventions.
23505181 In summary, moderately rare missense variants within the FTO, MC4R, and TMEM18 genes observed in our study did not confer risk of common childhood obesity in African Americans except for a degree of evidence for one known loss-of-function variant in MC4R.
23493066 Case Report: atomoxetine proved to efficiently reduce weight in a severely obese MC4R mutation carrier with attention deficit/hyperactivity disorder.
23460509 This study demonstrates that genetic variants in MC4R influence obesity traits in Korean adults.
23447422 Common variants in the FTO locus, and near MC4R locus, have been shown to have a robust association with obesity in children and adults among various ethnic groups
23318717 The near-MC4R locus exhibit inverse effect on weight at birth in boys compared with findings at adolescence and adulthood. susceptibility such as OPRD1 were found to be associated to weight with strongest effects in males
23284998 Nt significant trend was found for MC4R rs17782313 on obesity.
23277235 Results indicate that the MC4R rs17782313 polymorphism could increase the amount of antipsychotic-related weight gain.
23251400 A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding
23211571 Data from cadaver tissue suggest that expression of MC4R mRNA in hypothalamus is widespread and in close approximation to endogenous MC4R binding partners/ligands agouti-related protein and alpha-melanocyte-stimulating hormone.
23201545 FTO and MC4R gene variants modify the impact of an intensive lifestyle intervention on body mass index decrease in overweight/obese children.
23185251 This is the first case-control study to show that MC4R mutations and polymorphisms do not affect weight loss and body composition over one year after bariatric surgery.
23159449 MC4Rs in autonomic neurons mediate beneficial effects of roux-en-Y gastric bypass, including weight-independent improved glucose homeostasis, in mice and humans.
23151679 The study demonstrates association of variants near MC4R with obesity and related traits in Indian children and adults, with higher impact during childhood.
23147118 MC4R mutations seem to impair eating behaviours or motivation, but no clear causal effects can be found in the balance of the evidence presented.
23146882 No major significant phenotypic differences between obese children with and without MC4R mutations.
23130628 Association of the FTO-rs9939609 and the MC4R-rs17782313 polymorphisms with type 2 diabetes depends on diet and that a high adherence to the Mediterranean diet counteracts the genetic predisposition.
23124548 study could not demonstrate any association of the genotyped variants of MC4R in the female pattern hair loss sample; findings, therefore, do not support the hypothesis that MC4R is involved in the pathogenesis of Female pattern hair loss
23088915 analysis of melanocortin 4 receptor oligomer formation, interaction sites and functional significance
23054017 Demonstration of the additive effect of four polymorphisms on the LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome risk.
23049848 review and meta-analysis of association between common polymorphism near the MC4R gene and obesity risk
23014839 Study provided data on the structure-function relationship of the TM6 of MC4R. We identified residues that are important for cell surface expression, ligand binding, cAMP generation, and residues for maintaining the WT receptor in active conformation.
23014838 Data identified 13 residues in TM3 that were essential for ligand binding and/or signaling. Moreover, L140 was critical for locking MC4R in inactive conformation and several mutants showed biased signaling in cAMP and ERK1/2 signaling pathways.
22989167 The strength of Linkage disequilibrium of the MC4R gene region is low and the haplotypes were not associated with obesity in Malaysian Malays.
22869321 The present meta-analysis confirmed the significant association of the rs17782313 polymorphism near the MC4R gene with type 2 diabetes risk.
22822657 Prevalence of the MC4R gene variant among the Malaysian cohort was similar with previous populations (2-4% of mutated allele carrier), but was not associated with obesity.
22724641 [review] MC4R contributes to variance in body mass index and influences the variance in appetite factors such as measured energy intake, satiety responsiveness and the intake of palatable energy-dense food.
22695173 Results show significant differences in distribution of single nucleotide polymorphism in this gene amongst whites and hispanics
22688572 Taking MC4R as an example, we demonstrate the impact of cryptic relatedness when trying to link non-coding SNPs to functionally relevant mutations.
22605619 This study descibed a novel population of neurons within the LHA that express both MC4R and the Lep receptor.
22566560 These data implicate MC4R in extreme SGA-induced weight gain and related metabolic disturbances.
22544740 Constitutive cholesterol-dependent endocytosis of melanocortin-4 receptor (MC4R) is essential to maintain receptor responsiveness to alpha-melanocyte-stimulating hormone (alpha-MSH)
22492873 Patients heterozygous for MC4R mutations exhibited the same magnitude and distribution of gastric bypass weight loss as patients without such mutations.
22466342 Rare allele frequencies were 0.02 for T for ADRB2rs1800888(Thr164Ile), 0.40 for A for FTOrs9939609, 0.25 for C for MC4Rrs17782313, and 0.20 for T for TMEM18rs6548238 in obesity and diabetes.
22463805 62 unrelated children with severe obesity were screened for mutations in MC4R and 3.2 percent were found to have mutations in MC4R.
22447289 MC4R loss-of-function mutations are unlikely to explain the high propensity to develop severe obesity in the Greek severely obese adult population.
22350153 A Common variant near the melanocortin 4 receptor is associated with low-density lipoprotein cholesterol and total cholesterol in the Chinese Han population.
22327910 MC4R dimerization in the paraventricular nucleus and GHSR/MC3R heterodimerization in the arcuate nucleus.
22310352 European-ancestry patients who were rs8087522 A-allele carriers (AG+AA) of the MC4R region on clozapine gained significantly more weight than non-carriers (P=0.027, n=69).
22106157 The greater rates of body mass accumulation and risk of type 2 diabetes before the age of 20 years in individuals with MC4R deficiency indicate that the effects of these mutations are more apparent during the active growth of childhood.
22020349 MC4R was associated with waist circumference in patients with schizophrenia
21976721 individuals carrying the I251L common allele are predisposed to better clinical outcome, reduced risk of type 2 diabetes, and better weight loss during diet and Roux-en Y gastric bypass surgical interventions
21935397 Analysis identified SNPs at three loci known to be associated with BMI with genome-wide confidence (P<5x10(-8); FTO, MC4R and FAIM2).
21921652 The odds ratios for stroke/TIA were...1.11 (95%CI 0.49-2.51) for rs2229616/MC4R, 1.05 (95%CI 0.82-1.3) for rs17782313/MC4R.
21818152 Four genetic loci were strongly and independently associated with obesity, NPY2R, NPFFR2, MC4R, and FTO.
21750520 Meta-analysis of 4992 subjects revealed seven SNPs near four loci, including NEGR1, TMEM18, SH2B1 /ATP2A1 and MC4R, showing significant association at 0.005
21738238 Functional rescue of stop mutations in the MC4R is dependent on: (i) triplet sequence of the stop codon, (ii) surrounding sequence, (iii) location within the receptor, (iv) applied aminoglycoside and ligand
21736789 genetic association studies in Caucasian male population in Spain: SNP rs12970134 near MC4R gene region may partly explain inter-individual differences in transient postprandial hypertriglyceridemia response in young male subjects.
21729752 performed detailed functional studies on MC4R mutations reported recently; they were either not characterized or characterized incompletely
21720444 Our data suggest that SNPs in or near the MC4R locus contribute to obesity risk in the Greek population.
21719532 The ability of the cytosolic cognate 70-kDa heat-shock protein (Hsc70) chaperone system to modulate cell surface expression of MC4R, was investigated.
21625854 Polymorphism rs12970134 near MC4R may be associated to the risk of obesity in Han Chinese population.
21544599 The rs17782313 and rs17700633 variants near the MC4R gene were associated with adiposity-related phenotypes in African and European-American youth. Some significant interactions of rs17700633 with gender and ethnicity were observed.
21404042 We conclude that the contribution of the MC4R gene variants to the pathogenesis of obesity in Polish children and adolescents is low.
21347432 association of FTO rs9939609 and MC4R rs17782313 with endometrial cancer risk
21303735 our data do not support the hypothesis that a SNP in MC4R causes the rs17782313 association signal.
21283731 While not associated with polycystic ovary syndrome itself, five SNPs in FTO and two in MC4R were associated with body mass index
21222259 role of melanocortin 4 receptor in obesity control
21211532 C-terminal tail of the MC(4) receptor with the corresponding regions from the MC(2) receptor resulted in MRAP-dependent signaling
21207518 MC4R is a strong obesity candidate gene.
21094029 the combined effect of common variants in two of the most robustly obesity-associated loci, that is FTO and MC4R, explains not more than 2% of the variance in body weight at the population level.
21085626 Data revealed that MC4R coding variants had almost no impact on the association signal.
21085626 Observational study of gene-disease association. (HuGE Navigator)
21063808 data support that fat mass and obesity-associated protein(FTO)rs9939609 and melanocortin 4 receptor(MC4R)rs17782313 polymorphisms are strongly associated with obesity and body mass index and their combined effects were significant in Chinese population
21063808 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
21047921 MC4R deficiency, increased linear growth in childhood leads to increased adult final height, greater than predicted by obesity alone.
21046283 conclude that the C-2745T genetic polymorphism of the melanocortin 4 receptor (MC4R) gene does not influence the level of physical activity in healthy, adult men
21046283 Observational study of gene-disease association. (HuGE Navigator)
20975296 Detected MC4R deficiency in 6 patients from our obese cohort, amounting to a prevalence of 5.3%. Two novel mutations were identified. Intracellular retention was a common pathogenic effect of MC4R mutations.
20975296 Observational study of gene-disease association. (HuGE Navigator)
20966905 We conclude that rare heterozygous mutations in the coding sequence of MC4R account for some severe obesity cases in the Dutch population.
20966905 Observational study of gene-disease association. (HuGE Navigator)
20966902 genetic risk factors are associated with anthropometric traits in Filipinos and provide further insight into the effects of BDNF, FTO, and MC4R on BMI.
20966902 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20957447 In obese patients with MC4R mutations, percent weight loss after Roux-en-Y gastric bypass (RYGB) was not significantly different from controls. Patients with MC4R mutations benefit from RYGB. Weight loss may be independent of the presence of mutations.
20957447 Observational study of gene-disease association. (HuGE Navigator)
20843981 Observational study of gene-disease association. (HuGE Navigator)
20816195 Observational study of gene-disease association. (HuGE Navigator)
20816152 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20733583 Observational study of gene-disease association. (HuGE Navigator)
20725061 data support original finding that there is an association between measures of obesity and a variant near the MC4R gene and extends the results to a younger population and implicates FTO, TMEM18, and SH2B1 polymorphisms in subcutaneous fat regulation.
20725061 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20724581 Observational study of gene-disease association. (HuGE Navigator)
20712903 Observational study of gene-disease association. (HuGE Navigator)
20703240 Observational study of gene-disease association. (HuGE Navigator)
20696697 Two novel melanocortin agonists that were able in vitro to efficiently activate mutated hMC4R with impaired endogenous agonist functional response are described.
20682687 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20631012 MC4R variants are all retained in the endoplasmic reticulum (ER), are ubiquitinated to a greater extent than the wild-type (wt) receptor, and induce ER stress.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20616199 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20600126 identify receptor residues in close proximity to the bound ligand NDP-MSH, thereby differentiating between residues directly involved in ligand binding and those mutations that compromise ligand binding by inducing conformational changes in the receptor.
20580033 Observational study of gene-disease association. (HuGE Navigator)
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20538960 Observational study of gene-disease association. (HuGE Navigator)
20530052 MC4R polymorphisms were more frequent both in clinical pediatric obese group and in low-socioeconomic school group
20530052 Observational study of gene-disease association. (HuGE Navigator)
20520848 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
20421936 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20406574 genetic association studies [Chile]: association between MC4R rs17782313 polymorphism and childhood obesity/anthropometric variables/childhood eating behavior scores (satiety responsiveness, enjoyment of food scores)
20406574 Observational study of gene-disease association. (HuGE Navigator)
20400458 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20397748 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20386550 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20374728 Potential therapeutic implications from the analyses of the naturally occurring MC4R mutations, such as novel ligands and pharmacological chaperones, are highlighted.
20220015 Hyperphagic obesity in single-minded homolog 1 (Sim1)-deficient mice may be attributable to transgenic changes in the leptin-melanocortin-oxytocin pathway.
20215774 A single-nucleotide polymorphism in the MC4R gene has a role in early postnatal weight gain.
20215774 Observational study of gene-disease association. (HuGE Navigator)
20215397 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20214954 Ligand binding, signaling pathway and subcellular localization of mutant MC4R proteins identified in severely obese subjects.
20181787 The outcome of this study indicates that polymorphisms in the FTO gene and near the MC4R gene do not have a role in regulating food intake and preference for specific food items.
20181787 Observational study of gene-disease association. (HuGE Navigator)
20161779 Observational study of gene-disease association. (HuGE Navigator)
20147580 The fact that obese subjects with MC4R mutations show an inverse relationship between obesity and muscle sympathetic nerve activity suggests that central sympathetic outflow to the vasculature might depend on functional melanocortinergic pathways
20147580 Observational study of gene-disease association. (HuGE Navigator)
20092643 Observational study of gene-disease association. (HuGE Navigator)
20070976 The relatively large effect of these common variants near melanocortin 4 receptor on general and visceral adiposity in childhood, could prove helpful in elucidating the molecular mechanisms underlying the development of obesity in early life.
20070976 Observational study of gene-disease association. (HuGE Navigator)
20007308 Variation near the MC4R gene is associated with BMI.
20007308 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19906786 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19889825 MC4R genetic variants are likely to play a functional role in the regulation of weight, not only through energy intake but through energy expenditure in Hispanic children.
19889825 Observational study of gene-disease association. (HuGE Navigator)
19880856 Genetic variants in FTO and MC4R showed similar biphasic changes in their associations with body size.
19880856 Observational study of gene-disease association. (HuGE Navigator)
19851340 Data show that SNPs in SEC16B and TMEM18 were significantly associated with obesity, and the SNPs in GNPDA2, BDNF, FAIM2 and MC4R were marginally associated with obesity in Japanese.
19851340 Observational study of gene-disease association. (HuGE Navigator)
19844209 The rs17782313 C-allele and the rs17700633 A-allele were both associated with BMI in childhood and adolescence, significant for the rs17782313 C-allele at the age of 13-19 years and for rs17700633 A-allele at age 7, 10, 13 and 19 years.
19844209 Observational study of gene-disease association. (HuGE Navigator)
19812171 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19803416 role of melanocortin 4 receptor mutations in obesity [review]
19794065 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19746409 Observational study of gene-disease association. (HuGE Navigator)
19741604 Conclude that agonism of MC4R is not likely to represent a viable approach to the development of antiobesity therapeutics.
19696756 this study confirmed and extended previous findings, suggesting the MC4R V103I polymorphism is negatively associated with human obesity. It provides significant evidence for the association in East Asian populations.
19696756 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19692490 Observational study of gene-disease association. (HuGE Navigator)
19680233 Genetic variation in MC4R locus can have a moderate contribution in the regional fat deposition and development of central obesity in Asian Indians.
19680233 Observational study of gene-disease association. (HuGE Navigator)
19668254 No significant differences were observed between the MC4R genotype and BMI (P=0.015), and the frequency of obesity (P=0.284).
19629057 Despite an association with BMI and nonvisceral adipose tissue, the SNP rs17782313 did not influence visceral adipose tissue.
19629057 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19557197 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
19491387 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19470880 Observational study of gene-disease association. (HuGE Navigator)
19463742 the melanocortinergic system interacts with insulin signaling via novel effects on JNK activity
19367093 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19303903 The results suggest that THIQ utilize both conserved and non-conserved amino acid residues for binding and signaling at hMC4R and non conserved residues may be responsible for MC4R selectivity.
19301229 MC4R mutations are not a common cause of obesity in Norway and screening of obese patients does not appear to be warranted.
19301229 Observational study of gene-disease association. (HuGE Navigator)
19298524 characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients
19284607 Children carrying MC4R mutations seem to show a particular phenotype characterized by early onset, severe obesity and high stature
19284607 Observational study of gene-disease association. (HuGE Navigator)
19283510 The objective of this study was to examine the Val103Ile polymorphism of MC4R in a population of Vojvodina and its association with obesity.
19283510 Observational study of gene-disease association. (HuGE Navigator)
19265794 Variants 3' to the MC4R locus present on the genotyping platform utilized confer a similar magnitude of risk of obesity in white children as to their adult white counterparts but this observation did not extend to African-Americans.
19265794 Observational study of gene-disease association. (HuGE Navigator)
19255736 Data show that the combined effects of common polymorphisms in FTO and MC4R are additive, predictive of obesity and T2D, and may be influenced by interactions with physical activity levels and gender, respectively.
19255736 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19244934 the functional mutations in the melanocortin 4 receptor gene have an important impact in body mass index and in obesity
19214805 growing list of loss-of-function MC4R mutations in early onset obese patients and suggest an orexigenic effect of novel Y302F mutation
19207921 Autosomal dominant mutations in the melanocortin-4 receptor (MC4R) gene are the leading cause of monogenic severe childhood-onset obesity.
19184404 study concludes that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity
19184404 Observational study of gene-disease association. (HuGE Navigator)
19164386 Observational study of gene-disease association. (HuGE Navigator)
19153581 The rs17782313-C allele nearby MC4R may modulate eating behaviour-related phenotypes in European obese and randomly selected populations, in both children and adults.
19153581 Observational study of gene-disease association. (HuGE Navigator)
19151714 In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene), near MAF (encoding the transcription factor c-MAF) and near PTER (phosphotriesterase-related gene).
19151714 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19092146 The prevalence of hypertension was markedly lower in the MC4R-deficient subjects than in the control subjects (24% vs. 53%, P=0.009)
19091795 Mutations in MC4R are a significant cause of severe obesity but MC3R mutations are not associated with severe obesity in North American population.
19091795 Observational study of gene-disease association. (HuGE Navigator)
19079261 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
19079260 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19073769 Variations in MC4R associate with measures of obesity in Danish individuals.
19073769 Observational study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
19050674 As the MC4R locus explains only 0.28% of the BMI and 0.14% of the WC phenotypic variance in the Scottish population, most of the genetic contribution to obesity remains to be identified.
19050674 Observational study of gene-disease association. (HuGE Navigator)
19016587 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19011902 The spectrum of mutations in humans, combined with the overall low level of diversity, suggests that most (if not all) of the observed non-synonymous polymorphisms are likely to be transient deleterious mutations.
18997677 Children with MC4R mutations leading to reduced receptor function were able to lose weight in a lifestyle intervention but had much greater difficulties to maintain this weight loss supporting the impact of these mutations on weight status.
18997677 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18992263 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18974267 An important role for the beta-MSH/MC4-R cascade in human melanocyte biology.
18835933 Pima Indians heterozygous for R165Q or an insertion at nucleotide 100 have higher body mass index and lower energy expenditure as a componenet of increased adiposity.
18835933 Observational study of gene-disease association. (HuGE Navigator)
18809499 Initial structural data obtained by solution NMR measurements is presented
18801902 A combination of functional studies and structural modeling of naturally occurring pathogenic mutations in MC4R can provide valuable information regarding the molecular mechanism of MC4R activation and its dysfunction in obesity.
18779298 The higher dietary intake of carbohydrates in severely obese persons with the MC4R 103I variant is in line with previous findings which may effect body size in extreme obesity.
18779298 Observational study of gene-disease association. (HuGE Navigator)
18777518 ADHD in obese MC4R deficient subjects: a newly described expression of MC4R deficiency.
18697794 the common SNP rs17782313 near MC4R gene was significantly associated with higher intakes of total energy and dietary fat; in addition, the SNP was related to greater long-term weight change and increased risk of diabetes in women
18682847 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18559663 We have established a robust estimate of age-related penetrance for MC4R deficiency and demonstrated a generational effect on penetrance, which may relate to the development of an "obesogenic" environment
18551113 Observational study of gene-disease association. (HuGE Navigator)
18461507 present study shows that genetic variants in the MC4R promoter are associated with the development of infantile spasms. The rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms.
18461507 Observational study of gene-disease association. (HuGE Navigator)
18454148 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18454148 Common variants near MC4R and thus altered MC4R functions are associated with fat mass, weight and risk of obesity
18454146 Single nucleotide polymorphism in MC4R gene is associated with waist circumference and insulin resistance
18454146 Genome-wide association study of gene-disease association. (HuGE Navigator)
18377640 Heterozygotes for the 103Ile-allele are not more prone to develop cancer cachexia than patients without this allele.
18377640 Observational study of gene-disease association. (HuGE Navigator)
18239646 The MC4R V103I polymorphism plays a role in appetite regulation that not only affects BMI, but also other features of the metabolic syndrome. The association of the MC4R V103I with obesity and related phenotypes is genuine.
18239646 Observational study of gene-disease association. (HuGE Navigator)
17986382 These results suggest that the i3 loop of MC4R is essential not only for the functional activity but also for the regulation and maintenance of an optimal constitutive activity of MC4R in the control of energy homeostasis.
17941900 MC4R mutations result in an autosomal codominant form of obesity with variable expressivity
17941900 Observational study of gene-disease association. (HuGE Navigator)
17822895 series of pyrrolidinones derived from phenylalaninepiperazines were synthesized and characterized as potent and selective antagonists of the melanocortin-4 receptor
17713970 The aim of this study was to investigate the molecular mechanism of human MC4R activation by [Nle4, d-Phe7]alpha-melanocyte-stimulating hormone (NDP-MSH).
17668051 Use of naturally occurring human mutations to develop two engineerd melanocortin-4 receptors, which play an important role in body weight regulation.
17590021 Identification of ligands possessing agonist potency with hMC4R polymorphisms.
17587397 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17579204 Observational study of gene-disease association. (HuGE Navigator)
17579204 Prevalence of 2.4% of MC4R homozygous and heterozygous mutations among Czech obese children.
17545153 Conserved sequences in the melanocortin-4 receptor are involved in alpha-melanocyte-stimulating hormone binding and signaling.
17519222 Meta-analysis of gene-disease association. (HuGE Navigator)
17519222 the importance of the MC4R signalling tonus to prevent obesity, even in the context of our current obesogenic environment.
17517245 Found a homozygous 2-base pair deletion (del 346-347AG) leading to a stop codon. This new mutation leads to a truncated MC4R after the second transmembrane domain in a patient with severae early-onset obesity.
17492953 Observational study of gene-disease association. (HuGE Navigator)
17492953 The presence of heterozygous MC4R mutations in obese and overweight subjects indicates that these mutations may be a susceptibility factor for the development of obesity.
17482720 Further structure-activity studies of lactam derivatives of MT-II and SHU-9119 were made at MC4R.
17445027 Observational study of gene-disease association. (HuGE Navigator)
17445027 No mutation or polymorphism was detected in the MC4R gene despite thorough sequencing of the entire coding region including exon-intron boundary.
17418015 Observational study of gene-disease association. (HuGE Navigator)
17376547 The D298N mutation identified, for the first time, differential structural requirements of the MC4 receptor for activation of the cAMP and p44/42 MAPK pathways.
17356525 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17356525 Individuals carrying the isoleucine allele of MC4R had an 18% (95% confidence interval 4-30%, P=0.015) lower risk of obesity compared with non-carriers.
17322114 Our data show for the first time that active immunization of rats against the NT sequence of the MC4-R results in specific Abs, which appear to stimulate food intake by acting as inverse agonists in the hypothalamus.
17286227 Observational study of gene-disease association. (HuGE Navigator)
17185898 Observational study of gene-disease association. (HuGE Navigator)
17185898 Two novel heterozygous non-synonymous mutations (Val166Ile; Arg310Lys) and a novel heterozygous non-sense mutation (Cys277Stop) in the melanocortin 4 receptor were detected in Chinese obese individuals.
17041250 in addition to its inverse agonistic activities, Agrp exhibits agonistic properties on the endocytosis pathway of melanocortin-3 and -4 receptors
16886960 Observational study of gene-disease association. (HuGE Navigator)
16820227 analysis of molecular basis of melanocortin-4 receptor for AGRP inverse agonism
16710097 Observational study of gene-disease association. (HuGE Navigator)
16710097 A MC4R promoter mutation, -439delGC, associated with early-onset obesity.
16614075 CART signaling is the main molecular pathway accounting for the decrease in bone resorption leading to high bone mass in mice and humans deficient in Mc4r
16611215 Melanocortin 4 receptor (MC4R) residue leucine-250 is proposed as a key role-player in switching MC4R from active to inactive receptor conformation.
16507637 Observational study of gene-disease association. (HuGE Navigator)
16459314 Observational study of gene-disease association. (HuGE Navigator)
16279363 Observational study of gene-disease association. (HuGE Navigator)
16278267 Observational study of gene-disease association. (HuGE Navigator)
16231025 Observational study of gene-disease association. (HuGE Navigator)
16114870 Binding affinity and potency of the linear peptide agonists, while site directed mutation impaired interactions with nonpeptide agonists.
16083993 Systematic and comparative functional study of over 50 different obesity-associated MC4R mutations highlighted in this review suggests that multiple functional alterations contribute to their pathogenicity.
16081629 Dermal papilla cells expressed both MC1R and MC4R in vitro, and immunoreactivity for these receptors was also present in cells of the human dermal papilla in situ.
16032553 Observational study of gene-disease association. (HuGE Navigator)
16030156 Novel MC4R variant identified from an obese patient cannot be assumed to be the cause of obesity without demonstrating a loss-of-function phenotype
15951321 Observational study of gene-disease association. (HuGE Navigator)
15865442 The proximal region of the melanocortin-4 receptor (MC4R) carboxyl-terminus is crucial not only for receptor signaling but also for ligand binding, while the third intracellular loop is important mainly for receptor signaling.
15821099 Data demonstrate that the constitutive activity of the human melanocortin-4 receptor promoter is dependent upon Sp1 and 3 transcription factors.
15805150 Meta-analysis of gene-disease association. (HuGE Navigator)
15597110 Observational study of gene-disease association. (HuGE Navigator)
15585384 Observational study of gene-disease association. (HuGE Navigator)
15533382 Observational study of gene-disease association. (HuGE Navigator)
15533382 DNA sequence analysis of the conformers of melanocortin-4 receptor (MC4R) revealed variants in premature pubarche and hyperandrogenism.
15489963 Results suggest that the tonic satiety signal provided by the constitutive activity of the melanocortin-4 receptor may be required for maintaining long-term energy homeostasis in humans.
15486053 Observational study of gene-disease association. (HuGE Navigator)
15470082 Outlining the ligand recognition sites in the melanocortin receptors.
15466016 findings clearly substantiate that MC4R mutations entail a strong predisposition to obesity
15448103 Observational study of gene-disease association. (HuGE Navigator)
15448103 Variations in MC4R may account for a small portion of obesity in Pima Indians.
15292469 Observational study of gene-disease association. (HuGE Navigator)
15292469 the Val103Ile polymorphism of the melanocortin-4 receptor (MC4R) gene is associated with energy expenditure in humans
15215606 While no MC4R ligand binding was detected in any of the mutants studied, one mutant, D146A, resulted in higher cAMP production in cells than the wild-type receptor without ligand stimulation
15126516 In humans, MC4R mediates most anorectic effects of leptin in early childhood. Does not mediate effect of leptin on linear growth and other endocrine axes. MC4R deficiency not cause of relative hyperinsulinemia.
15037865 Observational study of gene-disease association. (HuGE Navigator)
15037865 No evidence for an increased rate of binge-eating behavior in obese carriers of MC4R variants.
14973783 Meta-analysis of gene-disease association. (HuGE Navigator)
14764818 Observational study of gene-disease association. (HuGE Navigator)
14764818 Pathogenic MC4R mutation was found among subjects with severe early-onset obesity but not among morbidly obese adults. Impaired function of S127L receptor due to reduced activation.
14764812 A novel heterozygous missense mutation (Glu(308)Lys) that impairs MC4-R functional activity in vitro was characterized.
14633862 Observational study of gene-disease association. (HuGE Navigator)
14633862 Genetic variation in the transcriptionally essential region of the MC4R promoter is not a significant cause of severe obesity in humans.
14523020 unlocking of a stabilizing interaction between the DRY motif, in the cytosolic part of transmembrane region TM3, and TM6 is important for the activation process; unlocking may be facilitated by creation of a new interaction between TM3 and TM2
14504270 identification of missense mutation in patients with early onset obesity
13678297 A three-dimensional structure of the human melanocortin 4 receptor (hMC4R) is constructed in this study using a computer-aided molecular modeling approach.
12970296 Observational study of gene-disease association. (HuGE Navigator)
12970296 Melanocortin-4 receptor gene mutations represent major gene effects for obesity
12959994 Six of 11 mutants had either decreased or no ligand binding, with proportional impairments in [Nle4, d-Phe7]-alpha-MSH-stimulated cAMP production.
12815165 The second and third extracellular loops of MC4R are important for AGRP 87-132 N-terminal binding, whereas the third and fourth transmembrane domains of hMC4R are crucial for AGRP 110-117 binding.
12732337 beta-MSH rather than alpha-MSH is the key ligand at the MC4-R populations that regulate feeding, and inhibition of tonic release of beta-MSH is one mechanism contributing to hunger in under-feeding
12690102 the impact of the MC4R mutations on receptor function and for the development of obesity
12646666 Observational study of gene-disease association. (HuGE Navigator)
12629567 Observational study of gene-disease association. (HuGE Navigator)
12499395 Heterozygous mutations in the coding region of the serpentine Melanocortin 4 receptor are the most common genetic cause of human obesity .
12364415 Observational study of gene-disease association. (HuGE Navigator)
12364415 results do not support the prevailing notion that sequence variation in the melanocortin 4 receptor gene is a frequent cause of human obesity
12244039 the function of the MC1 and MC4 receptors can be positively modulated by metal ions acting both as partial agonists and as potentiators for other agonists
12140789 Observational study of gene-disease association. (HuGE Navigator)
12140789 MC4R mutation screen in bulimia nervosa patients
12045190 Identification of domains directing specificity of coupling to G-proteins
12032748 Observational study of gene-disease association. (HuGE Navigator)
12032748 MC4R obesity causing mutations in less than 0.5% of the patients indicate low prevalence of MC4R variants in the obese population from southern Italy
11912210 molecular determinants responsible for antagonist SHU9119 selective activity
11823452 Because it has no introns, the gene is insensitive to the normal degradation of mRNA's with premature termination codons.
11692184 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11487744 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLLENILVIVAIA      1 - 70
KNKNLHSPMYFFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVNIDNVIDSVICSSLLASICSL     71 - 140
LSIAVDRYFTIFYALQYHNIMTVKRVGIIISCIWAACTVSGILFIIYSDSSAVIICLITMFFTMLALMAS    141 - 210
LYVHMFLMARLHIKRIAVLPGTGAIRQGANMKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPYCVCF    211 - 280
MSHFNLYLILIMCNSIIDPLIYALRSQELRKTFKEIICCYPLGGLCDLSSRY                      281 - 332
//

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26965781 2016 Melanocortin-4 receptor rs17782313 polymorphisms are associated with serum triglycerides in older Chinese women.
26849546 2015 The Impact of Physical Activity and Dietary Measures on the Biochemical and Anthropometric Parameters in Obese Children. Is There Any Genetic Predisposition?
26814590 2016 Melanocortin-4 receptor-regulated energy homeostasis.
26782456 2015 Genetic variant screening of MC3R and MC4R genes in early-onset obese children and their relatives among a Thai population: family-based study.
26680479 2015 Metabolic and hormonal consequencies of the "obesity risk" MC4R variant (rs12970134) in Czech women.
26588347 2016 Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults.
26469516 2015 hMRAP?, but Not hMRAP2, Enhances hMC4R Constitutive Activity in HEK293 Cells and This Is Not Dependent on hMRAP? Induced Changes in hMC4R Complex N-linked Glycosylation.
26244670 2016 The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.
26238496 2015 Age of obesity onset in MC4R mutation carriers.
26032905 2015 Interaction between common variants of FTO and MC4R is associated with risk of PCOS.
25966591 2015 [Association of polymorphic variants of FTO and MC4R genes with obesity in a Tatar population].
25948074 2015 Associations between a common variant near the MC4R gene and serum triglyceride levels in an obese pediatric cohort.
25919555 2015 [Mutation screening and function prediction of melanocortin-4 receptor gene in obese children].
25871004 2015 Polymorphisms in neuropeptide genes and bone mineral density in Korean postmenopausal women.
25769385 2015 The association of MC4R rs17782313 polymorphism with dietary intake in Iranian adults.
25753114 2015 Solution structure of the transmembrane 2 domain of the human melanocortin-4 receptor in sodium dodecyl sulfate (SDS) micelles and the functional implication of the D90N mutant.
25637721 2015 Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population.
25503666 2015 Early screening of FTO and MC4R variants in newborns of Greek origin.
25501231 2014 Association between FTO, MC4R, SLC30A8, and KCNQ1 gene variants and type 2 diabetes in Saudi population.
25446108 2015 Co-expression of human agouti-related protein enhances expression and stability of human melanocortin-4 receptor.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25419636 2015 Melanocortin-4 receptor gene variants are not associated with binge-eating behavior in nonobese patients with eating disorders.
25402378 The combined effect of MC4R and FTO risk alleles on childhood obesity in Greece.
25347793 2014 Structural insight into the MC4R conformational changes via different agonist-mediated receptor signaling.
25332687 2014 Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.
25115458 2014 Association between rs12970134 Near MC4R and adiposity indexes in a homogenous population of Caucasian schoolchildren.
25103139 2014 Common genetic variation in and near the melanocortin 4 receptor gene (MC4R) is associated with body mass index in American Indian adults and children.
25062455 2014 Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues.
24943127 2014 Melanocortin 4 receptor activation inhibits presynaptic N-type calcium channels in amygdaloid complex neurons.
24880622 2014 A polymorphism near MC4R gene (rs17782313) is associated with serum triglyceride levels in the general Japanese population: the J-MICC Study.
24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
24827639 2015 Association between MC4R rs17782313 polymorphism and overeating behaviors.
24820477 2014 Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.
24705671 2014 Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.
24611737 2014 Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population.
24518831 2014 Controversial association results for INSIG2 on body mass index may be explained by interactions with age and with MC4R.
24516669 2014 Variation in the MC4R gene is associated with bone phenotypes in elderly Swedish women.
24512492 2014 Functional characterization of variants in MC4R gene promoter region found in obese children.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24385306 2014 The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity.
24348519 2013 EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
24307561 2014 Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polymorphisms on resting energy expenditure, leptin and thyrotropin levels in obese non-morbid premenopausal women.
24276017 2014 Brain-derived neurotrophic factor in human subjects with function-altering melanocortin-4 receptor variants.
24151814 2014 MC4R rs17782313 gene polymorphism was associated with glycated hemoglobin independently of its effect on BMI in Japanese: the Shimane COHRE study.
24139164 2014 Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in Chilean children.
24105491 2014 Association between melanocortin-4 receptor mutations and eating behaviors in obese patients: a case--control study.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
24091943 2013 Interaction between obesity-related genes, FTO and MC4R, associated to an increase of breast cancer risk.
24066140 2013 Common genetic variation near MC4R has a sex-specific impact on human brain structure and eating behavior.
24064335 2014 Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.
24040077 2013 Meal frequencies modify the effect of common genetic variants on body mass index in adolescents of the northern Finland birth cohort 1986.
23920449 2013 MC4R rs489693: a clinical risk factor for second generation antipsychotic-related weight gain?
23895708 2013 Screening for melanocortin 4 receptor mutations in Chinese extremely obese individuals.
23849767 2013 Effects of FTO RS9939906 and MC4R RS17782313 on obesity, type 2 diabetes mellitus and blood pressure in patients with hypertension.
23762205 2013 Molecular genetic aspects of weight regulation.
23740648 2014 Weight loss after bariatric surgery in morbidly obese adolescents with MC4R mutations.
23727064 2013 Association of POL1, MALT1, MC4R, PHLPP and DSEL single nucleotide polymorphisms in chromosome 18q region with type 2 diabetes in Tunisians.
23669352 2013 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23512951 2013 Variation at the melanocortin 4 receptor gene and response to weight-loss interventions in the diabetes prevention program.
23505181 2013 The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.
23493066 2013 Successful treatment with atomoxetine of an adolescent boy with attention deficit/hyperactivity disorder, extreme obesity, and reduced melanocortin 4 receptor function.
23460509 2013 Replication of genetic effects of MC4R polymorphisms on body mass index in a Korean population.
23447422 2013 A common variant in the FTO locus is associated with waist-hip ratio in Indian adolescents.
23318717 2013 Sex-specific effects of weight-affecting gene variants in a life course perspective--The HUNT Study, Norway.
23284998 2012 Statistical and biological gene-lifestyle interactions of MC4R and FTO with diet and physical activity on obesity: new effects on alcohol consumption.
23277235 2013 Association of the common MC4R rs17782313 polymorphism with antipsychotic-related weight gain.
23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
23251400 2012 A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.
23211571 2013 Melanocortin 4 receptor distribution in the human hypothalamus.
23201545 2013 FTO and MC4R gene variants determine BMI changes in children after intensive lifestyle intervention.
23185251 2012 Melanocortin-4 receptor mutations and polymorphisms do not affect weight loss after bariatric surgery.
23159449 2013 Weight-independent effects of roux-en-Y gastric bypass on glucose homeostasis via melanocortin-4 receptors in mice and humans.
23151679 2013 Strong influence of variants near MC4R on adiposity in children and adults: a cross-sectional study in Indian population.
23147118 2013 Eating behaviour in obese patients with melanocortin-4 receptor mutations: a literature review.
23146882 2012 Clinical and functional relevance of melanocortin-4 receptor variants in obese German children.
23130628 2012 Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are modulated by diet, being higher when adherence to the Mediterranean diet pattern is low.
23124548 2013 Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.
23088915 2013 The melanocortin 4 receptor: oligomer formation, interaction sites and functional significance.
23054017 2013 The joint effect of cigarette smoking and polymorphisms on LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome susceptibility in Taiwan.
23049848 2012 Association between common polymorphism near the MC4R gene and obesity risk: a systematic review and meta-analysis.
23014839 2012 Pleiotropic functions of the transmembrane domain 6 of human melanocortin-4 receptor.
23014838 2012 Functions of transmembrane domain 3 of human melanocortin-4 receptor.
22989167 2013 Association of melanocortin-4 receptor gene polymorphisms with obesity-related parameters in Malaysian Malays.
22869321 2012 Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals.
22822657 2012 Prevalence of melanocortin receptor 4 (MC4R) V103I gene variant and its association with obesity among the Kampar Health Clinic cohort, Perak, Malaysia.
22724641 2012 Obesity and eating behaviour in children and adolescents: contribution of common gene polymorphisms.
22695173 Frequencies of obesity susceptibility alleles among ethnically and racially diverse bariatric patient populations.
22688572 2012 Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.
22605619 2012 Neuroanatomy of melanocortin-4 receptor pathway in the lateral hypothalamic area.
22566560 2012 Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain.
22544740 2012 Constitutive cholesterol-dependent endocytosis of melanocortin-4 receptor (MC4R) is essential to maintain receptor responsiveness to ?-melanocyte-stimulating hormone (?-MSH).
22492873 2012 Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery.
22466342 2012 ?2-adrenergic receptor Thr164Ile polymorphism, obesity, and diabetes: comparison with FTO, MC4R, and TMEM18 polymorphisms in more than 64,000 individuals.
22463805 2012 High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.
22447289 2012 Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population.
22350153 2012 A Common variant near the melanocortin 4 receptor is associated with low-density lipoprotein cholesterol and total cholesterol in the Chinese Han population.
22344221 2012 Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
22327910 2012 MC4R dimerization in the paraventricular nucleus and GHSR/MC3R heterodimerization in the arcuate nucleus: is there relevance for body weight regulation?
22310352 2013 Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene.
22106157 2012 Greater impact of melanocortin-4 receptor deficiency on rates of growth and risk of type 2 diabetes during childhood compared with adulthood in Pima Indians.
22020349 2011 Polymorphisms of INSIG2, MC4R, and LEP are associated with obesity- and metabolic-related traits in schizophrenic patients.
22013104 2012 Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.
21976721 2011 The MC4R(I251L) allele is associated with better metabolic status and more weight loss after gastric bypass surgery.
21935397 2011 Genome-wide population-based association study of extremely overweight young adults--the GOYA study.
21921652 2011 Evaluation of the obesity genes FTO and MC4R and the type 2 diabetes mellitus gene TCF7L2 for contribution to stroke risk: The Mannheim-Heidelberg Stroke Study.
21818152 2011 Polymorphisms in the NPY2R gene show significant associations with BMI that are additive to FTO, MC4R, and NPFFR2 gene effects.
21750520 2012 Implication of European-derived adiposity loci in African Americans.
21738238 2012 Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.
21736789 2011 A variant near the melanocortin-4 receptor gene regulates postprandial lipid metabolism in a healthy Caucasian population.
21729752 2011 Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.
21720444 2012 Common variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 show evidence of association with adult obesity in the Greek population.
21719532 2011 The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants.
21625854 2012 Implication of genetic variants near TMEM18, BCDIN3D/FAIM2, and MC4R with coronary artery disease and obesity in Chinese: a angiography-based study.
21544599 2011 Influence of common variants in FTO and near INSIG2 and MC4R on growth curves for adiposity in African- and European-American youth.
21404042 2011 Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index.
21347432 2011 The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women.
21303735 2011 Association study of MC4R with complex obesity and replication of the rs17782313 association signal.
21283731 2011 FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
21222259 2010 Drugs, exercise, and the melanocortin-4 receptor-- different means, same ends: treating obesity.
21211532 2011 Use of chimeric melanocortin-2 and -4 receptors to identify regions responsible for ligand specificity and dependence on melanocortin 2 receptor accessory protein.
21207518 2011 Evidences on three relevant obesogenes: MC4R, FTO and PPAR?. Approaches for personalized nutrition.
21094029 2010 Heritability of body weight: moving beyond genetics.
21085626 2010 Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus.
21063808 2011 Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chinese Han populations.
21047921 2011 Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion.
21046283 2011 Melanocortin-4 receptor gene polymorphism and the level of physical activity in men (HALS Study).
20975296 2010 Identification and functional characterization of novel mutations in the melanocortin-4 receptor.
20966905 2011 Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.
20966902 2011 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
20957447 2011 Weight loss after Roux-en-Y gastric bypass in obese patients heterozygous for MC4R mutations.
20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20843981 2010 Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children.
20816195 2010 Analyses of shared genetic factors between asthma and obesity in children.
20816152 2010 Obesity and diabetes genetic variants associated with gestational weight gain.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20733583 2011 Associations of markers in 11 obesity candidate genes with maximal weight loss and weight regain in the SOS bariatric surgery cases.
20725061 2011 MC4R variant is associated with BMI but not response to resistance training in young females.
20724581 2010 Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies.
20712903 2010 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
20703240 2010 Polymorphisms in NRXN3, TFAP2B, MSRA, LYPLAL1, FTO and MC4R and their effect on visceral fat area in the Japanese population.
20696697 2010 Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20682687 2010 Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
20631012 2010 Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20616199 2010 Evaluation of genetic susceptibility loci for obesity in Chinese women.
20600126 2010 Interactions of the melanocortin-4 receptor with the peptide agonist NDP-MSH.
20580033 2010 Replication of recently described type 2 diabetes gene variants in a South Indian population.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20538960 2010 A candidate gene study of obstructive sleep apnea in European Americans and African Americans.
20530052 2011 Melanocortin-4 receptor polymorphisms in Turkish pediatric obese patients.
20520848 2010 Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20421936 2010 Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.
20406574 2010 Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior.
20400458 2010 Genome-wide association of anthropometric traits in African- and African-derived populations.
20397748 2010 Genome-wide association study of height and body mass index in Australian twin families.
20386550 2010 Genes and lifestyle factors in obesity: results from 12,462 subjects from MONICA/KORA.
20374728 2009 Mutations in melanocortin-4 receptor and human obesity.
20220015 2010 Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression.
20215774 2010 Association between a common variant near MC4R and change in body mass index develops by two weeks of age.
20215397 2010 Implication of genetic variants near NEGR1, SEC16B, TMEM18, ETV5/DGKG, GNPDA2, LIN7C/BDNF, MTCH2, BCDIN3D/FAIM2, SH2B1, FTO, MC4R, and KCTD15 with obesity and type 2 diabetes in 7705 Chinese.
20214954 2010 Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy.
20181787 2010 A variant in the fat mass and obesity-associated gene (FTO) and variants near the melanocortin-4 receptor gene (MC4R) do not influence dietary intake.
20161779 2010 Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
20147580 2010 Sympathetic function in human carriers of melanocortin-4 receptor gene mutations.
20092643 2010 Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS).
20070976 2010 Common variants near melanocortin 4 receptor are associated with general and visceral adiposity in European- and African-American youth.
20007308 2010 Influence of common variants near INSIG2, in FTO, and near MC4R genes on overweight and the metabolic profile in adolescence: the TRAILS (TRacking Adolescents' Individual Lives Survey) Study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19906786 2010 Unraveling the directional link between adiposity and inflammation: a bidirectional Mendelian randomization approach.
19889825 2010 Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children.
19880856 2010 Life course variations in the associations between FTO and MC4R gene variants and body size.
19851340 2009 Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.
19844209 2010 Common variants near MC4R in relation to body fat, body fat distribution, metabolic traits and energy expenditure.
19812171 2010 Cumulative effects and predictive value of common obesity-susceptibility variants identified by genome-wide association studies.
19803416 2009 Melanocortin-4 receptor mutations in obesity.
19794065 2010 Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
19746409 2010 Are recently identified genetic variants regulating BMI in the general population associated with anorexia nervosa?
19743876 2009 Novel binding motif of ACTH analogues at the melanocortin receptors.
19741604 2009 Potent and selective agonism of the melanocortin receptor 4 with MK-0493 does not induce weight loss in obese human subjects: energy intake predicts lack of weight loss efficacy.
19737927 2009 Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits signaling from melanocortin receptor by competition with Galphas.
19696756 2010 Association of the MC4R V103I polymorphism with obesity: a Chinese case-control study and meta-analysis in 55,195 individuals.
19692490 2009 Obesity genes identified in genome-wide association studies are associated with adiposity measures and potentially with nutrient-specific food preference.
19680233 2010 Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs.
19668254 2009 Prognostic significance of FTO genotype in the development of obesity in Japanese: the J-SHIPP study.
19629057 2009 Impact of variation near MC4R on whole-body fat distribution, liver fat, and weight loss.
19557197 2009 NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
19491387 2009 Severe obesity is associated with novel single nucleotide polymorphisms of the ESR1 and PPARgamma locus in Han Chinese.
19470880 2009 Does greater adiposity increase blood pressure and hypertension risk?: Mendelian randomization using the FTO/MC4R genotype.
19463742 2009 Melanocortin-4 receptor activation inhibits c-Jun N-terminal kinase activity and promotes insulin signaling.
19367093 2009 Association study between candidate genes and obesity-related phenotypes using a sample of lumberjacks.
19329486 2009 MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.
19303903 2009 Key amino acid residues in the melanocortin-4 receptor for nonpeptide THIQ specific binding and signaling.
19301229 2009 Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
19298524 2009 Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients.
19284607 2009 Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.
19283510 2010 Polymorphism Val103Ile of the melanocortin-4 receptor gene in the Serbian population.
19265794 2009 Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.
19255736 2009 Combined effects of MC4R and FTO common genetic variants on obesity in European general populations.
19244934 2008 Obesity and eating behaviour in a three-generation Chilean family with carriers of the Thrl50Ile mutation in the melanocortin-4 receptor gene.
19214805 2009 A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity.
19207921 2009 Anesthetic management for adenotonsillectomy of a child with severe obesity due to homozygous melanocortin-4 receptor gene mutations.
19184404 2009 Melanocortin-4 receptor gene polymorphisms in obese patients.
19164386 2009 Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.
19153581 2009 Common genetic variation near MC4R is associated with eating behaviour patterns in European populations.
19151714 2009 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
19092146 2009 Modulation of blood pressure by central melanocortinergic pathways.
19091795 2009 Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
19079261 2009 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
19077438 2009 Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
19073769 2009 Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes.
19058789 2009 A common variant in DRD3 receptor is associated with autism spectrum disorder.
19050674 2009 Common genetic variants at the MC4R locus are associated with obesity, but not with dietary energy intake or colorectal cancer in the Scottish population.
19016587 2009 How does body fat influence bone mass in childhood? A Mendelian randomization approach.
19011902 2009 Increased constraints on MC4R during primate and human evolution.
18997677 2009 Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18992263 2009 Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
18974267 2009 Regulation of pigmentation in human epidermal melanocytes by functional high-affinity beta-melanocyte-stimulating hormone/melanocortin-4 receptor signaling.
18835933 2008 Lower metabolic rate in individuals heterozygous for either a frameshift or a functional missense MC4R variant.
18809499 2008 High-level expression and purification of the second transmembrane domain of wild-type and mutant human melanocortin-4 receptor for solid-state NMR structural studies.
18801902 2009 Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
18779298 2008 Association of the melanocortin-4 receptor V103I polymorphism with dietary intake in severely obese persons.
18777518 2008 Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: a newly described expression of MC4R deficiency.
18697794 2008 The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women.
18682847 2008 Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes.
18559663 2008 Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
18551113 2008 Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns.
18461507 2007 Analysis of single nucleotide polymorphisms in the melanocortin-4 receptor promoter in infantile spasms.
18454148 2008 Common variants near MC4R are associated with fat mass, weight and risk of obesity.
18454146 2008 Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
18377640 2008 Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cachexia.
18239646 2008 Association of the MC4R V103I polymorphism with the metabolic syndrome: the KORA Study.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17986382 2008 Role of third intracellular loop of the melanocortin 4 receptor in the regulation of constitutive activity.
17941900 2008 Novel melanocortin 4 receptor gene mutations in severely obese children.
17822895 2007 Pyrrolidinones as potent functional antagonists of the human melanocortin-4 receptor.
17713970 2007 Substituted NDP-MSH peptides paired with mutant melanocortin-4 receptors demonstrate the role of transmembrane 6 in receptor activation.
17668051 2007 Engineering the melanocortin-4 receptor to control constitutive and ligand-mediated G(S) signaling in vivo.
17590021 2007 Peptide and small molecules rescue the functional activity and agonist potency of dysfunctional human melanocortin-4 receptor polymorphisms.
17587397 2007 Genetic variation and decreased risk for obesity in the Atherosclerosis Risk in Communities Study.
17579204 2007 Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.
17545153 2007 Contribution of the conserved amino acids of the melanocortin-4 receptor in [corrected] [Nle4,D-Phe7]-alpha-melanocyte-stimulating [corrected] hormone binding and signaling.
17519222 2007 Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene.
17517245 2007 Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.
17492953 2007 A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.
17482720 2007 Further structure-activity studies of lactam derivatives of MT-II and SHU-9119: their activity and selectivity at human melanocortin receptors 3, 4, and 5.
17445027 2007 Variation analysis of beta3-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity.
17418015 2007 [Association between melanocortin 4 receptor gene polymorphisms and obesity].
17376547 2007 Structural and signaling requirements of the human melanocortin 4 receptor for MAP kinase activation.
17356525 2007 The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals.
17322114 2007 Antibodies against the melanocortin-4 receptor act as inverse agonists in vitro and in vivo.
17286227 2007 A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.
17185898 2006 Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents.
17041250 2006 The natural inverse agonist agouti-related protein induces arrestin-mediated endocytosis of melanocortin-3 and -4 receptors.
16886960 2006 Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population.
16820227 2006 Molecular basis of melanocortin-4 receptor for AGRP inverse agonism.
16710097 2006 A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity.
16614075 2006 Cart overexpression is the only identifiable cause of high bone mass in melanocortin 4 receptor deficiency.
16611215 2006 Molecular mechanism of the constitutive activation of the L250Q human melanocortin-4 receptor polymorphism.
16507637 2006 Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
16459314 2006 A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16279363 2005 MC4R marker associated with stature in children and young adults: a longitudinal study.
16278267 2006 The 103I variant of the melanocortin 4 receptor is associated with low serum triglyceride levels.
16231025 2006 Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.
16114870 2005 Interactions of human melanocortin 4 receptor with nonpeptide and peptide agonists.
16083993 2005 Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function.
16081629 2005 Detection of functionally active melanocortin receptors and evidence for an immunoregulatory activity of alpha-melanocyte-stimulating hormone in human dermal papilla cells.
16032553 [Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population].
16030156 2005 Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.
15951321 2005 Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy.
15927146 2005 Functional analysis of the Ala67Thr polymorphism in agouti related protein associated with anorexia nervosa and leanness.
15865442 2005 Molecular mechanism of the intracellular segments of the melanocortin-4 receptor for NDP-MSH signaling.
15821099 2005 Expression of the human melanocortin-4 receptor gene is controlled by several members of the Sp transcription factor family.
15805150 2005 Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys.
15597110 2005 Melanocortin-4 receptor gene and physical activity in the Québec Family Study.
15585384 2004 Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity.
15533382 2004 Mutational analysis of the melanocortin-4 receptor (MC4R) gene in children with premature pubarche and adolescent girls with hyperandrogenism.
15489963 2004 Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15486053 2005 Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
15470082 2005 Proteochemometric mapping of the interaction of organic compounds with melanocortin receptor subtypes.
15466016 2004 Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index.
15448103 2004 Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians.
15292469 2004 The Val103Ile polymorphism of melanocortin-4 receptor regulates energy expenditure and weight gain.
15215606 2004 The role of the DRY motif of human MC4R for receptor activation.
15126516 2004 A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.
15037865 2004 Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.
14973783 2004 Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.
14764818 2004 Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.
14764812 2004 Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14671178 2003 Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.
14633862 2003 The human MC4R promoter: characterization and role in obesity.
14531729 2003 Characterization of a novel binding partner of the melanocortin-4 receptor: attractin-like protein.
14523020 2003 High affinity agonistic metal ion binding sites within the melanocortin 4 receptor illustrate conformational change of transmembrane region 3.
14504270 2003 Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesity.
13678297 2003 Modeling and docking of the three-dimensional structure of the human melanocortin 4 receptor.
12970296 2003 Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
12959994 2003 Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.
12815165 2003 Molecular determination of agouti-related protein binding to human melanocortin-4 receptor.
12732337 2003 beta-MSH: a functional ligand that regulated energy homeostasis via hypothalamic MC4-R?
12690102 2003 Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
12646666 2003 Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.
12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
12639913 2003 Regulation of melanocortin-4 receptor signaling: agonist-mediated desensitization and internalization.
12629567 2003 A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population.
12620396 2003 The structure and evolution of the melanocortin and MCH receptors in fish and mammals.
12588803 2003 Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
12499395 2003 Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12364415 2002 Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.
12244039 2002 Metal ion-mediated agonism and agonist enhancement in melanocortin MC1 and MC4 receptors.
12165561 2002 A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.
12140789 2002 Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4 receptor gene.
12045190 2002 Identification of domains directing specificity of coupling to G-proteins for the melanocortin MC3 and MC4 receptors.
12036966 2002 Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.
12015205 2002 Evidence for an interaction between neuropeptide Y and the melanocortin-4 receptor on feeding in the rat.
11823452 2002 The human intronless melanocortin 4-receptor gene is NMD insensitive.
11747427 2001 High-resolution NMR structure of the chemically-synthesized melanocortin receptor binding domain AGRP(87-132) of the agouti-related protein.
11692184 2001 A missense mutation in the human melanocortin-4 receptor gene in relation to abdominal obesity and salivary cortisol.
11487744 2001 Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.
11443223 2001 A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.
11101306 2000 Molecular determinants of ligand binding to the human melanocortin-4 receptor.
10585465 1999 Functional characterization of mutations in melanocortin-4 receptor associated with human obesity.
10318826 1999 Contribution of melanocortin receptor exoloops to Agouti-related protein binding.
10199800 1999 Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
9771699 1998 A frameshift mutation in human MC4R is associated with a dominant form of obesity.
9771698 1998 A frameshift mutation in MC4R associated with dominantly inherited human obesity.
9763669 1998 Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping.
9392003 1997 Linkage and association studies between the melanocortin receptors 4 and 5 genes and obesity-related phenotypes in the Québec Family Study.
9058374 1997 Effects of recombinant agouti-signaling protein on melanocortin action.
8794897 1996 Morphine down-regulates melanocortin-4 receptor expression in brain regions that mediate opiate addiction.
8392067 1993 Molecular cloning, expression, and gene localization of a fourth melanocortin receptor.
7949735 1994 Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.
7854347 1994 Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain.