Melanocortin-4 receptor in energy homeostasis and obesity pathogenesis.

[1]  E. Ingelsson,et al.  Associations of Variants in FTO and Near MC4R With Obesity Traits in South Asian Indians , 2012, Obesity.

[2]  Annette Lee,et al.  Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain. , 2012, Archives of general psychiatry.

[3]  K. Hong,et al.  Recapitulation of genome-wide association studies on body mass index in the Korean population , 2012, International Journal of Obesity.

[4]  T. Illig,et al.  Do Common Variants Separate between Obese Melanocortin-4 Receptor Gene Mutation Carriers and Non-Carriers? The Impact of Cryptic Relatedness , 2012, Hormone Research in Paediatrics.

[5]  Robert C. Malenka,et al.  Anhedonia requires MC4 receptor-mediated synaptic adaptations in nucleus accumbens , 2012, Nature.

[6]  J. Hebebrand,et al.  Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside‐Mediated Read‐Through , 2012, Obesity.

[7]  N. Stylopoulos,et al.  Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery. , 2012, The Journal of clinical endocrinology and metabolism.

[8]  Nicholette D. Palmer,et al.  Implication of European-derived adiposity loci in African Americans , 2012, International Journal of Obesity.

[9]  Yusuke Nakamura,et al.  Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations , 2012, Nature Genetics.

[10]  Yun Liu,et al.  A Common variant near the melanocortin 4 receptor is associated with low-density lipoprotein cholesterol and total cholesterol in the Chinese Han population , 2012, Molecular Biology Reports.

[11]  Gary K. Chen,et al.  Meta-analysis identifies common variants associated with body mass index in East Asians , 2012, Nature Genetics.

[12]  D. Meyre,et al.  Common Variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 Show Evidence of Association With Adult Obesity in the Greek Population , 2012, Obesity.

[13]  Yucheng Chen,et al.  Implication of genetic variants near TMEM18, BCDIN3D/FAIM2, and MC4R with coronary artery disease and obesity in Chinese: a angiography-based study , 2012, Molecular Biology Reports.

[14]  S. R. Kulkarni,et al.  Analysis of 32 common susceptibility genetic variants and their combined effect in predicting risk of Type 2 diabetes and related traits in Indians , 2012, Diabetic medicine : a journal of the British Diabetic Association.

[15]  C. Bogardus,et al.  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 , 2011, Diabetes.

[16]  Joseph T. Glessner,et al.  Role of BMI‐Associated Loci Identified in GWAS Meta‐Analyses in the Context of Common Childhood Obesity in European Americans , 2011, Obesity.

[17]  D. Carey,et al.  The MC4R(I251L) allele is associated with better metabolic status and more weight loss after gastric bypass surgery. , 2011, The Journal of clinical endocrinology and metabolism.

[18]  W. Wurst,et al.  Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo , 2011, The Pharmacogenomics Journal.

[19]  Torben Hansen,et al.  Genome-Wide Population-Based Association Study of Extremely Overweight Young Adults – The GOYA Study , 2011, PloS one.

[20]  Zhi‐qiang Wang,et al.  Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations. , 2011, Biochimica et biophysica acta.

[21]  R. Dodel,et al.  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 , 2011, Obesity Facts.

[22]  J. Hebebrand,et al.  Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder. , 2011, European journal of pharmacology.

[23]  S. Buchbinder,et al.  A novel missense mutation T101N in the melanocortin-4 receptor gene associated with obesity. , 2011, Genetics and molecular research : GMR.

[24]  H. Snieder,et al.  Influence of common variants in FTO and near INSIG2 and MC4R on growth curves for adiposity in African– and European–American youth , 2011, European Journal of Epidemiology.

[25]  L. V. Van Gaal,et al.  Association study of MC4R with complex obesity and replication of the rs17782313 association signal. , 2011, Molecular genetics and metabolism.

[26]  S. O’Rahilly,et al.  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. , 2011, The Journal of clinical endocrinology and metabolism.

[27]  U. Ekelund,et al.  Obesity-susceptibility loci have a limited influence on birth weight: a meta-analysis of up to 28,219 individuals. , 2011, The American journal of clinical nutrition.

[28]  M. Świtoński,et al.  Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index , 2011, Journal of Applied Genetics.

[29]  F. Takeuchi,et al.  Association of genetic variants for susceptibility to obesity with type 2 diabetes in Japanese individuals , 2011, Diabetologia.

[30]  R. Adan,et al.  Melanocortin‐4 Receptor Gene Mutations in a Dutch Cohort of Obese Children , 2011, Obesity.

[31]  S. Rogers,et al.  Bariatric surgery in a patient with complete MC4R deficiency , 2011, International Journal of Obesity.

[32]  M. García-Closas,et al.  The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women , 2011, PloS one.

[33]  B. Lowell,et al.  Melanocortin-4 receptors expressed by cholinergic neurons regulate energy balance and glucose homeostasis. , 2011, Cell metabolism.

[34]  J. Hebebrand,et al.  Common Variants Near MC4R: Exploring Gender Effects in Overweight and Obese Children and Adolescents Participating in a Lifestyle Intervention , 2011, Obesity Facts.

[35]  N. Akar,et al.  Melanocortin-4 Receptor Polymorphisms in Turkish Pediatric Obese Patients , 2011, Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.

[36]  M. Urbanek,et al.  FTO and MC4R Gene Variants Are Associated with Obesity in Polycystic Ovary Syndrome , 2011, PloS one.

[37]  J. Hebebrand,et al.  Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus , 2010, PloS one.

[38]  K. Clément,et al.  Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response. , 2010, The Journal of endocrinology.

[39]  Daniel S. Evans,et al.  Weight Loss after Roux-en-Y Gastric Bypass in Obese Patients Heterozygous for MC4R Mutations , 2010, Obesity surgery.

[40]  Henrik,et al.  Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index , 2012 .

[41]  L. V. Van Gaal,et al.  Identification and Functional Characterization of Novel Mutations in the Melanocortin-4 Receptor , 2010, Obesity Facts.

[42]  J. Ott,et al.  Associations of Six Single Nucleotide Polymorphisms in Obesity-Related Genes With BMI and Risk of Obesity in Chinese Children , 2010, Diabetes.

[43]  F. Hu,et al.  Evaluation of genetic susceptibility loci for obesity in Chinese women. , 2010, American journal of epidemiology.

[44]  Y. Tao.  The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology. , 2010, Endocrine reviews.

[45]  Ramanagouda Ramanagoudr-Bhojappa,et al.  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. , 2010, Molecular endocrinology.

[46]  S. Chua,et al.  An intrinsic gut leptin-melanocortin pathway modulates intestinal microsomal triglyceride transfer protein and lipid absorption , 2010, Journal of Lipid Research.

[47]  B. Proneth,et al.  Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist. , 2010, Biochemistry.

[48]  D. Goldstein,et al.  Uncovering the roles of rare variants in common disease through whole-genome sequencing , 2010, Nature Reviews Genetics.

[49]  A. Zagari,et al.  Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy. , 2010, Gene.

[50]  J. Chan,et al.  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. , 2010, The Journal of clinical endocrinology and metabolism.

[51]  S. Ring,et al.  Genetic Markers of Adult Obesity Risk Are Associated with Greater Early Infancy Weight Gain and Growth , 2010, PLoS medicine.

[52]  H. Wichmann,et al.  Genes and lifestyle factors in obesity: results from 12 462 subjects from MONICA/KORA , 2010, International Journal of Obesity.

[53]  J. Santos,et al.  Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior , 2010, Nutritional neuroscience.

[54]  J. Hebebrand,et al.  Sympathetic function in human carriers of melanocortin-4 receptor gene mutations. , 2010, The Journal of clinical endocrinology and metabolism.

[55]  Raimund Erbel,et al.  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 , 2010, PLoS genetics.

[56]  J. Hebebrand,et al.  Association of the MC4R V103I Polymorphism With Obesity: A Chinese Case–control Study and Meta‐analysis in 55,195 Individuals , 2010, Obesity.

[57]  P. Sham,et al.  Obesity susceptibility genetic variants identified from recent genome-wide association studies: implications in a chinese population. , 2010, The Journal of clinical endocrinology and metabolism.

[58]  David B. Goldstein,et al.  Rare Variants Create Synthetic Genome-Wide Associations , 2010, PLoS biology.

[59]  J. Hebebrand,et al.  Eating disorders: the current status of molecular genetic research , 2009, European Child & Adolescent Psychiatry.

[60]  J. Hoyer,et al.  Modulation of blood pressure by central melanocortinergic pathways. , 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[61]  W. Rief,et al.  Causal attributions of obese men and women in genetic testing: Implications of genetic/biological attributions , 2009, Psychology & health.

[62]  Joseph T. Glessner,et al.  Investigation of the Locus Near MC4R With Childhood Obesity in Americans of European and African Ancestry , 2009, Obesity.

[63]  S. Tonstad,et al.  Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. , 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

[64]  L. Pennacchio,et al.  Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. , 2009, Human molecular genetics.

[65]  A. Salvatoni,et al.  Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity , 2009, BMC Medical Genetics.

[66]  J. Hebebrand,et al.  Three at One Swoop! , 2009, Obesity Facts.

[67]  J. Hebebrand,et al.  Lifestyle Intervention in Obese Children With Variations in the Melanocortin 4 Receptor Gene , 2009, Obesity.

[68]  Barbara Heude,et al.  Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations , 2009, Nature Genetics.

[69]  Paul W. Franks,et al.  Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden , 2009, Human molecular genetics.

[70]  S. Mitrani‐Rosenbaum,et al.  Attention deficit hyperactivity disorder in obese melanocortin‐4‐receptor (MC4R) deficient subjects: A newly described expression of MC4R deficiency , 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[71]  M. Stoneking,et al.  Increased constraints on MC4R during primate and human evolution , 2008, Human Genetics.

[72]  Ya-Xiong Tao,et al.  Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics. , 2008, Pharmacology & therapeutics.

[73]  S. O’Rahilly,et al.  Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees , 2008, Diabetes.

[74]  F. Kronenberg,et al.  Association of the melanocortin-4 receptor V103I polymorphism with dietary intake in severely obese persons. , 2008, The American journal of clinical nutrition.

[75]  W. Jia,et al.  Intracellular retention of human melanocortin-4 receptor: a molecular mechanism underlying early-onset obesity in F261S pedigree of Chinese. , 2008, Biomedical and environmental sciences : BES.

[76]  J. Hebebrand,et al.  A Heterozygous Mutation in the Third Transmembrane Domain Causes a Dominant-Negative Effect on Signalling Capability of the MC4R , 2008, Obesity Facts.

[77]  Subhajyoti De,et al.  Common variants near MC4R are associated with fat mass, weight and risk of obesity , 2008, Nature Genetics.

[78]  Philippe Froguel,et al.  Common genetic variation near MC4R is associated with waist circumference and insulin resistance , 2008, Nature Genetics.

[79]  Wei Zhang,et al.  Adeno-associated virus-mediated knockdown of melanocortin-4 receptor in the paraventricular nucleus of the hypothalamus promotes high-fat diet-induced hyperphagia and obesity. , 2008, The Journal of endocrinology.

[80]  Zhen‐Chuan Fan,et al.  Pharmacological analyses of two naturally occurring porcine melanocortin-4 receptor mutations in domestic pigs. , 2008, Domestic animal endocrinology.

[81]  Y. Lee,et al.  Novel melanocortin 4 receptor gene mutations in severely obese children , 2008, Clinical endocrinology.

[82]  J. Hebebrand,et al.  Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cachexia , 2008, BMC Cancer.

[83]  K. Clément,et al.  Mutational Analysis of the Pro-opiomelanocortin Gene in French Obese Children Led to the Identification of a Novel Deleterious Heterozygous Mutation Located in the α-Melanocyte Stimulating Hormone Domain , 2008, Pediatric Research.

[84]  F. Kronenberg,et al.  Association of the MC4R V103I Polymorphism With the Metabolic Syndrome: The KORA Study , 2008, Obesity.

[85]  Seung Woo Shin,et al.  Role of third intracellular loop of the melanocortin 4 receptor in the regulation of constitutive activity. , 2008, Biochemical and biophysical research communications.

[86]  Thomas Gudermann,et al.  Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. , 2007, Endocrinology.

[87]  T. Hansen,et al.  Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis. , 2007, The Journal of clinical endocrinology and metabolism.

[88]  N. Ling,et al.  Substituted NDP-MSH peptides paired with mutant melanocortin-4 receptors demonstrate the role of transmembrane 6 in receptor activation. , 2007, Biochemistry.

[89]  F. Horber,et al.  Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. , 2007, Human molecular genetics.

[90]  W. Millard,et al.  Peptide and small molecules rescue the functional activity and agonist potency of dysfunctional human melanocortin-4 receptor polymorphisms. , 2007, Biochemistry.

[91]  J. Pankow,et al.  Genetic variation and decreased risk for obesity in the Atherosclerosis Risk in Communities Study , 2007, Diabetes, obesity & metabolism.

[92]  M. Jarvelin,et al.  A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity , 2007, Science.

[93]  A. Martí,et al.  A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population , 2007, Clinical endocrinology.

[94]  S. O’Rahilly,et al.  The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals , 2007, International Journal of Obesity.

[95]  D. Lawlor,et al.  Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE , 2007, Human mutation.

[96]  W. Jia,et al.  [Association between melanocortin 4 receptor gene polymorphisms and obesity]. , 2007, Zhonghua yi xue za zhi.

[97]  J. Hebebrand,et al.  Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents , 2006, Journal of endocrinological investigation.

[98]  K. Georgeson,et al.  Molecular basis of melanocortin-4 receptor for AGRP inverse agonism , 2006, Regulatory Peptides.

[99]  Roded Sharan,et al.  Medical sequencing at the extremes of human body mass. , 2006, American journal of human genetics.

[100]  Y. Tao.  Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications. , 2006, Pharmacology & therapeutics.

[101]  B. Cheung,et al.  Identification and functional characterization of three novel human melanocortin‐4 receptor gene variants in an obese Chinese population , 2006, Clinical endocrinology.

[102]  Zhimin Xiang,et al.  Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. , 2006, Biochemistry.

[103]  K. Clément,et al.  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. , 2006, The Journal of clinical endocrinology and metabolism.

[104]  T. Meitinger,et al.  Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany. , 2006, The Journal of clinical endocrinology and metabolism.

[105]  W. Millard,et al.  Molecular Mechanism of the Constitutive Activation of the L250Q Human Melanocortin‐4 Receptor Polymorphism ‡ , 2006, Chemical biology & drug design.

[106]  J. Hebebrand,et al.  The 103I variant of the melanocortin 4 receptor is associated with low serum triglyceride levels. , 2006, The Journal of clinical endocrinology and metabolism.

[107]  Robert A. McGovern,et al.  Divergence of Melanocortin Pathways in the Control of Food Intake and Energy Expenditure , 2005, Cell.

[108]  D. Segaloff,et al.  Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. , 2005, The Journal of clinical endocrinology and metabolism.

[109]  M. Maj,et al.  Melanocortin-4 receptor molecular scanning and pro-opiomelanocortin R236G variant screening in binge eating disorder. , 2005, Psychiatric genetics.

[110]  F. Contaldo,et al.  Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy. , 2005, Clinical chemistry.

[111]  W. Blum,et al.  Prävalenz von Melanocortin-4-Rezeptor(MC4R)-Mutationen und Polymorphismen bei adipösen Kindern und Jugendlichen in einer konsekutiven pädiatrischen Inanspruchnahmepopulation , 2005 .

[112]  F. Kronenberg,et al.  Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys , 2005, Journal of Medical Genetics.

[113]  R. Mandel,et al.  Voluntary exercise delays monogenetic obesity and overcomes reproductive dysfunction of the melanocortin-4 receptor knockout mouse. , 2005, Biochemical and biophysical research communications.

[114]  F. Horber,et al.  Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity , 2004, Journal of Gastrointestinal Surgery.

[115]  B. Conklin,et al.  Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. , 2004, The Journal of clinical investigation.

[116]  C. Bogardus,et al.  Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. , 2004, Diabetes.

[117]  T. Gudermann,et al.  Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index , 2004, Journal of Medical Genetics.

[118]  J. Hebebrand,et al.  Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations , 2004, Molecular Psychiatry.

[119]  Pierre Bougnères,et al.  A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans. , 2004, The Journal of clinical endocrinology and metabolism.

[120]  T. Gudermann,et al.  Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. , 2004, American journal of human genetics.

[121]  A. Pinchera,et al.  Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation. , 2004, The Journal of clinical endocrinology and metabolism.

[122]  C. Schalin-Jäntti,et al.  Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. , 2004, The Journal of clinical endocrinology and metabolism.

[123]  J. Flier.  Obesity Wars Molecular Progress Confronts an Expanding Epidemic , 2004, Cell.

[124]  T. Schöneberg,et al.  Mutationally Induced Disulfide Bond Formation within the Third Extracellular Loop Causes Melanocortin 4 Receptor Inactivation in Patients with Obesity* , 2003, Journal of Biological Chemistry.

[125]  T. Gudermann,et al.  Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization. , 2003, Diabetes.

[126]  P. Donohoue,et al.  Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. , 2003, The Journal of clinical endocrinology and metabolism.

[127]  Thomas Gudermann,et al.  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. , 2003, The Journal of clinical endocrinology and metabolism.

[128]  T. Gotoda.  Binge eating as a phenotype of melanocortin 4 receptor gene mutations. , 2003, The New England journal of medicine.

[129]  J. Hebebrand,et al.  Binge eating as a phenotype of melanocortin 4 receptor gene mutations. , 2003, New England Journal of Medicine.

[130]  R. Adan,et al.  Poor Cell Surface Expression of Human Melanocortin-4 Receptor Mutations Associated with Obesity* , 2003, Journal of Biological Chemistry.

[131]  F. Horber,et al.  Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. , 2003, The New England journal of medicine.

[132]  Tim Cheetham,et al.  Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. , 2003, The New England journal of medicine.

[133]  A. Hinney,et al.  Hyperphagia, not hypometabolism, causes early onset obesity in melanocortin-4 receptor knockout mice. , 2003, Physiological genomics.

[134]  S. O’Rahilly,et al.  Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. , 2003, Human molecular genetics.

[135]  A. Martí,et al.  A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population , 2003, International Journal of Obesity.

[136]  Philippe Froguel,et al.  Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. , 2003, Human molecular genetics.

[137]  E. Snyder,et al.  Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort. , 2002, The Journal of clinical endocrinology and metabolism.

[138]  Christopher P Austin,et al.  A role for the melanocortin 4 receptor in sexual function , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[139]  L. Perrone,et al.  Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity , 2002, International Journal of Obesity.

[140]  M. Hentze,et al.  The human intronless melanocortin 4-receptor gene is NMD insensitive. , 2002, Human Molecular Genetics.

[141]  K. Clément,et al.  Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. , 2001, The Journal of pediatrics.

[142]  H. Mergen,et al.  A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. , 2001, The Journal of clinical endocrinology and metabolism.

[143]  S. Cichon,et al.  Clozapine and weight gain. , 2001, The American journal of psychiatry.

[144]  R. Cone,et al.  Role of the central melanocortin system in cachexia. , 2001, Cancer research.

[145]  R. Palmiter,et al.  A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[146]  J. Metzger,et al.  Role of the melanocortin-4 receptor in metabolic rate and food intake in mice , 2000, Transgenic Research.

[147]  S. O’Rahilly,et al.  Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. , 2000, The Journal of clinical investigation.

[148]  K. Clément,et al.  Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. , 2000, The Journal of clinical investigation.

[149]  J. Hebebrand,et al.  Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. , 1999, American journal of human genetics.

[150]  J. Hebebrand,et al.  Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. , 1999, The Journal of clinical endocrinology and metabolism.

[151]  S. Heymsfield,et al.  Identification and functional analysis of novel human melanocortin-4 receptor variants. , 1999, Diabetes.

[152]  S. O’Rahilly,et al.  A frameshift mutation in MC4R associated with dominantly inherited human obesity , 1998, Nature Genetics.

[153]  K. Clément,et al.  A frameshift mutation in human MC4R is associated with a dominant form of obesity , 1998, Nature Genetics.

[154]  T. Aitman,et al.  Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin , 1997, Diabetologia.

[155]  H. Doll,et al.  Risk factors for bulimia nervosa. A community-based case-control study. , 1997, Archives of general psychiatry.

[156]  R. Cone,et al.  Targeted Disruption of the Melanocortin-4 Receptor Results in Obesity in Mice , 1997, Cell.

[157]  S. Watson,et al.  Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. , 1993, The Journal of biological chemistry.

[158]  W. Ewens,et al.  Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). , 1993, American journal of human genetics.

[159]  T. Wong,et al.  Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations , 2012, International Journal of Obesity.

[160]  A. Paterson,et al.  Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. , 2012, The Journal of clinical endocrinology and metabolism.

[161]  H. Biebermann,et al.  The neuroendocrine circuitry controlled by POMC, MSH, and AGRP. , 2012, Handbook of experimental pharmacology.

[162]  R. Gibbs,et al.  Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children. , 2010, The American journal of clinical nutrition.

[163]  G. Nikiforovich,et al.  Constitutive activity of neural melanocortin receptors. , 2010, Methods in enzymology.

[164]  J. Hebebrand,et al.  Genetic findings in anorexia and bulimia nervosa. , 2010, Progress in molecular biology and translational science.

[165]  V. Hruby,et al.  Contribution of the transmembrane domain 6 of melanocortin-4 receptor to peptide [Pro5, DNal (2')8]-gamma-MSH selectivity. , 2009, Biochemical pharmacology.

[166]  Christian Gieger,et al.  Six new loci associated with body mass index highlight a neuronal influence on body weight regulation , 2009, Nature Genetics.

[167]  Y. Tao.  Mutations in melanocortin-4 receptor and human obesity. , 2009, Progress in molecular biology and translational science.

[168]  S. O’Rahilly,et al.  Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. , 2009, Endocrinology.

[169]  Ellen Kampman,et al.  Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity , 2009, Nature Genetics.

[170]  D. Prayer,et al.  A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity. , 2007, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

[171]  D. Kleinjan,et al.  Long-range control of gene expression: emerging mechanisms and disruption in disease. , 2005, American journal of human genetics.

[172]  O. Pedersen,et al.  Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. , 2005, The Journal of clinical endocrinology and metabolism.

[173]  S. O’Rahilly,et al.  Monogenic obesity in humans. , 2005, Annual review of medicine.

[174]  K. Nakao,et al.  A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity. , 2002, Diabetes.

[175]  J. Hebebrand,et al.  Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4 receptor gene , 2002, Molecular Psychiatry.

[176]  S. Antonarakis.  Recommendations for a nomenclature system for human gene mutations , 1998 .