Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
Vaisse, Christian, Clement, Karine, Durand, Emmanuelle, Hercberg, Serge, Guy-Grand, Bernard, Froguel, Philippe·2000·Journal of Clinical Investigation
DOI 10.1172/jci9238
Cited by (901)
Items 801–900 of 901
- Bioactive Peptides for Alleviating Illness AnorexiaRichard Owusu-Apenten · 2010 · CRC Press eBooks
- Reguladores neuroendocrinos y gastrointestinales del apetito y la saciedad Neuroendocrine and gastrointestinal modulators of appetite and satietyRaúl Calzada‐León, Nelly F. Altamirano-Bustamante · 2008
- Genetics and molecular biology: Genetic control of body weightPaul Cullen · 2001 · Current Opinion in Lipidology
- Mystique: The Ultimate MutantLeah Ashley · 2016 · Journal of Interdisciplinary Science Topics
- Do our genes make us fat?Philippe Froguel · 2003 · CRC Press eBooks
- Regulation of cAMP Level by PDE3B—Physiological Implications in Energy Balance and Insulin SecretionAllan Z. Zhao, Lena Stenson Holst · 2006 · CRC Press eBooks
- Genetics of human and rodent body weight regulationKarine Clément · 2008 · Cambridge University Press eBooks
- Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and AdolescenceRoger K. Long, Stephen M. Rosenthal · 2017 · Elsevier eBooks
- ヒト4型メラノコルチン受容体 (MC 4R) の新規遺伝子異常により発症した肥満症小川 佳宏, 小林 宏正, 健 海老原, 林 達也, 細田 公則, 井上 元, 隆 石原, 倉八 博之, Kazuwa Nakao · 2003 · 糖尿病
- Essential Hypertension in Children: New Mechanistic InsightsAnne‐Maj Samuelsson · 2016 · InTech eBooks
- A nonsense loss-of-function mutation i PCSK1 contributes to dominantly inherited human obesityJulien Philippe, Pieter Stijnen, David Meyre, John W.M. Creemers, Philippe Froguel, Amélie Bonnefond · 2014
- Association study between near-MC4R variants and obesity-related variables in Portuguese young adultsLicínio Manco, Magdalena Muc, Cristina Maria Proença Padez · 2016 · Gene Reports
- Obesidade e genes candidatos: estudo de associação em populações quilombolas do Vale do Ribeira-SPJuliana Emilia Prior Carnavalli · 2016 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
- Genetics of early onset of severe obesity in a consanguineous populationSadia Saeed · 2015
- Biodisponibilidad y acción de los glucocorticoides en diversos modelos de inflamaciónAngelo Ledda · 2016 · Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)
- Investigating the Neurobiological Role of Tubby, a Protein Involved in ObesityRyan K. Mui · 2012 · TSpace (University of Toronto)
- Perspectivas dos conhecimentos genéticos para compreensão e tratamento da obesidade Perspective of genetics to understand and treat obesityCíntia Cercato · 2006 · DOAJ (DOAJ: Directory of Open Access Journals)
- Pharmacological characterization and functional rescue of the giant panda and human melanocortin-4 receptorsWei Wang · 2017
- Tobacco Smoking, Food Intake, and Weight ControlMing D. Li · 2018 · Springer eBooks
- The Magel2-null mouse as a model of Prader-Willi SyndromeRebecca E. Mercer · 2012 · ERA: Education and Research Archive (University of Alberta)
- Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity.Maria Cristina De Rosa, Alessandra Chesi, Shana Erin McCormack, Justin Zhou, Benjamin Weaver, Molly C. McDonald, Sinead Christensen, Kalle Liimatta, MICHAEL S. ROSENBAUM, Hakon H. Hakonarson et al. · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- Obésité, diabète de type 2 et prédisposition génðiqueRÉMI P.R. RABASA-LHORET, Philippe Froguel · 2002 · Bio Tribune Magazine
- Estudio de los mecanismos patogénicos de la hepatitis C y su relación con el desarrollo de esteatosis. Efecto de un tratamiento antioxidante con flavonoides = Study of the mechanisms involved in the development of steatosis associated to hepatitis C. Effects of antioxidant treatment with flavonoidsSandra Pisonero‐Vaquero · 2014
- Génétique de l’obésité humaineBéatrice Dubern, Delphine Eberlé, Karine Clément · 2004 · Médecine du Sommeil
- Ожиріння в дітей: визначення, лікування, профілактика. Клінічні практичні настанови Ендокринологічного Товариства. Частина 1Н. Б. Зелінська · 2021 · The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy
- The Role of the Melanocortin System in Binge-Like Ethanol ConsumptionGretchen M. Sprow · 2019 · Carolina Digital Repository (University of North Carolina at Chapel Hill)
- Structure-function relationship of human melanocortin-4 receptor and characterization of fish neural melanocortin receptorsLikun Yang · 2019
- Melanocortin receptors (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology DatabaseVanni Caruso, Biaoxin Chai, Adrian Clark, Roger D. Cone, Alex N. Eberlé, I. Sadaf Farooqi, Tung Ming Fong, Ira Gantz, Carrie Haskell‐Luevano, Victor J. Hruby et al. · 2019 · IUPHAR/BPS Guide to Pharmacology CITE
- Acute Regulation of Postprandial Lipemia and Chylomicron Production by Glucagon-Like Peptide-1 and Bile Acid SignalingSarah Farr · 2017 · TSpace (University of Toronto)
- Investigação genético-molecular em pacientes com alta estaturaEdoarda Vasco de Albuquerque Albuquerque · 2020
- Influence of the Breeding System on the Nucleotides Variability of Melanocortin-4 Receptor (MC4r) Gene in Chinchillas (Chinchilla lanigera)M. Kmieć, Jan Bińkowski, Jakub Kubiś · 2020 · Russian Journal of Genetics
- Obesity - is it a genetic disorder?R. J. F. L Oos, C. B Ouchard · 2003
- Putting a brake on hungerI. Sadaf Farooqi · 2021 · Science
- Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotypeFrancesca Tonelli, Silvia Cotti, Laura Leoni, Roberta Besio, Roberta Gioia, Loredana Marchese, Sofia Giorgetti, Simona Villani, Charlotte Gistelinck, Raimund Wagener et al. · 2021 · Yearbook of pediatric endocrinology
- Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohortKaitlin Hazel Wade, Brian Lam, Audrey Melvin, Pan W, Laura J. Corbin, Hughes Da, Kara Rainbow, Chen JH, Katie Duckett, Xia Liu et al. · 2021 · Yearbook of pediatric endocrinology
- Melanocortin receptors in GtoPdb v.2021.3Vanni Caruso, Biaoxin Chai, Adrian Clark, Roger D. Cone, Alex N. Eberlé, I. Sadaf Farooqi, Tung Ming Fong, Ira Gantz, Carrie Haskell‐Luevano, Victor J. Hruby et al. · 2021 · IUPHAR/BPS Guide to Pharmacology CITE
- Defining Your ShapeNathan Denton · 2021 · Oxford University Press eBooks
- Genetics of ObesityPhilippe Froguel, Philippe Boutin · 2004 · CRC Press eBooks
- Endocrine DiseaseAnthony P. Heaney, Glenn David Braunstein · 2007 · Humana Press eBooks
- Senior Author Correspondence Information2004 · Recent Progress in Hormone Research
- Faculty Opinions recommendation of Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.Joshua M. Akey · 2007 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Obesity2006 · Wiley Handbook of Current and Emerging Drug Therapies
- Endocrine PharmacologyJürgen Sandow · 2013 · Springer eBooks
- Genetics of ObesityBéatrice Dubern, Patrick Tounian · 2014 · Humana Press eBooks
- Genetic FactorsPaola Russo, Fabio Lauria, Alfonso Siani · 2010 · Springer eBooks
- Bioactive Peptides for Alleviating Illness Anorexia2010 · CRC Press eBooks
- Leptin and its mechanism of actionAnastasija Panić, Sanja Šoškić, Esma R. Isenović · 2015 · Medicinska istrazivanja
- Applied physiology: The control of weightPatrick English, John P.H. Wilding · 2006 · Current Paediatrics
- Do our genes make us fat?Philippe Froguel · 2003 · CRC Press eBooks
- Génétique de l’obésitéLouis Përusse · 2004 · EMC - Endocrinologie - Nutrition
- Faculty Opinions recommendation of Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.John I. Nürnberger · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Faculty Opinions recommendation of CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.Rama D Natarajan · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- The Genetic Determinants of Common Obesity-SusceptibilityRuth J. F. Loos · 2017 · Springer eBooks
- Faculty Opinions recommendation of Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.Andrew O.M. Wilkie · 2007 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Faculty Opinions recommendation of CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.Kevin Yuk-Lap Yip · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Faculty Opinions recommendation of Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.Anne E. Kwitek · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Nutrient-gene interactions contributing to the development of obesityCamilla Verdich, Karine Clément, T. Sorenson · 2010 · Woodhead Publishing Limited eBooks
- Genetics of the Human ObesitiesFrédéric Fumeron · 2012 · Springer eBooks
- Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and AdolescenceQing Dong, Stephen M. Rosenthal · 2012 · Elsevier eBooks
- BibliographieBernard Waysfeld · 2013 · Armand Colin eBooks
- Adrenal histological and functional changes after hepatic encephalopathy: From mice model to an integrative bioinformatics analysisAli Sepehri, Gila Pirzad Jahromi, Ali Shahbazi, Hedayat Sahraei, Boshra Hatef, Gholam Hossein Meftahi, Sajad Sahab Negah · 2022 · Acta Histochemica
- Pharmacological ChaperonesSuli‐Anne Laurin, Sajjad Ahrari, Michel Bouvier · 2022 · Wiley eBooks
- Prevalência de excesso de peso e avaliação do consumo alimentar de pré-escolares atendidos pelo Programa Nacional de Alimentação EscolarLetícia Alves Soares · 2023
- Prevention and Treatment of Obesity in ChildrenTalia A. Hitt, Katie L. Wasserstein, Sara N. Malina, Sheela Natesh Magge · 2023 · Springer eBooks
- Investigation of Obesity Gene Methylation Induced by SARS-CoV-2 Infection through Molecular DockingLuís Jesuíno de Oliveira Andrade, Gabriela Correia Matos de Oliveira, Luísa Correia Matos de Oliveira, Alcina Maria Vinhaes Bittencourt, Ana Paula Rodrigues dos Santos Rios, Guilherme Peixoto Nascimento, Luís Matos de Oliveira · 2024 · Research Square
- Involvement of the Melanocortin System in the Regulation of Circadian and Behavioural Mechanisms in ZebrafishAlejandra Godino‐Gimeno · 2024 · RiuNet (Universitat Politècnica de València)
- Characterizing the ovarian response to xenobiotic and environmentally induced metabolic challengesCrystal M Roach · 2023
- Current Assays in Endocrine Safety PharmacologyJürgen Sandow, Rosa Pirchio, Roberta Scairati, Annamaria Colao · 2024 · Springer eBooks
- Association of Interleukin-6 gene (rs1800795) variant with waist-hip-ratio and Insulin resistance: A cross-sectional study in adult womenAbhishek Gupta, Arun Kumar Singh, Priyanka Gupta, Komal Shah, Vani Gupta · 2024 · Endocrinology and Disorders
- Current Assays in Endocrine Safety PharmacologyJürgen Sandow, Rosa Pirchio, Roberta Scairati, Annamaria Colao · 2024 · Springer eBooks
- Femoral Artery Infusion of αMSH Increases Muscle Thermogenesis and Promotes Glucose Uptake in Ovariectomized EwesBelinda A. Henry, Michael Alexander Cowley, Zane Bruce Andrews, Iain James Clarke · 2024 · Endocrinology
- Spatial Variations and Cultural Explanations to Obesity in GhanaAgnes Asubonteng · 2019
- Kinase-dependent regulation of ciliary protein transport and its implications for therapyTaro Chaya, Yuri Ayano, Takahisa Furukawa · 2025 · Frontiers in Molecular Biosciences
- Reduced melanocortin tone mediates increased feeding during pregnancy in miceIngrid Camila Possa‐Paranhos, Kerem Catalbas, Samuel Congdon, Tanya Pattnaik, Christina Nelson, Dajin Cho, Patrick R. Sweeney · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- Site-Directed Mutagenesis and Time-Resolved Fluorescence Spectroscopy Reveal That Two Hydrogen-Bonded Carboxylic Side Chains Are Essential for GPR68 Proton Sensing and G Protein BindingBhav Kapur, Eva Martin, Ana‐Nicoleta Bondar, Michael J. Schuler, Esther Schmidt, Herbert Nar, Gisela Schnapp · 2025 · ACS Pharmacology & Translational Science
- IntroductionJames A. Carr · 2025 · Elsevier eBooks
- Predators and the evolution of obesity in humansJames A. Carr · 2025 · Elsevier eBooks
- Génétique des obésités humainesFrédéric Fumeron · 2013 · Springer eBooks
- Molecular Physiology of Monogenic and Syndromic Obesities in HumansWendy K. Chung, Rudolph L. Leibel · 2007 · Humana Press eBooks
- Conséquences fonctionnelles de mutations affectant le récepteur de la vasopressine de type 2 et implications thérapeutiquesCarpentier, Eric · 2011
- Epigenetic Targeting of Obesity Genes by the SARS-CoV-2 Spike ProteinLuís Jesuíno de Oliveira Andrade, Luísa Correia Matos de Oliveira, Alcina Maria Vinhaes Bittencourt, Gabriela Correia Matos de Oliveira, Osmário Jorge de Mattos Salles, Luís Matos de Oliveira · 2026 · Research Square
- Pharmacotherapy in childhood obesity: Key points from the 2023 AAP clinical practice guidelineFatima Alam, Dorothee Newbern · 2026 · Seminars in Pediatric Surgery
- Détection gustative des lipides alimentaires chez la souris : portrait croisé de deux lipido-récepteurs, CD36 & GPR120 : impacts sur les préférences alimentaires et la santéCéline Martin · 2011 · theses.fr (ABES)
- Conséquences pharmacologiques et fonctionnelles de l'hétérodimérisation des récepteurs V1B et CRF1Julie Mion · 2013 · theses.fr (ABES)
- AMPc et prise alimentaire sous le contrôle des récepteurs 5-HT4 de la sérotonine dans le noyau accumbensMaud Pratlong · 2014 · theses.fr (ABES)
- Exploration de la plasticité neuronale et gliale dans le système à mélanocortine à l'échelle des repas dans un modèle murin.Danaé Nuzzaci · 2017 · theses.fr (ABES)
- Nouvelle technique de détection simultanée des variant ponctuels et des copy number variants dans l’obésité monogéniqueMehdi Derhourhi · 2018 · theses.fr (ABES)
- Caractérisation des vésicules extracellulaires dans un contexte d’obésité et suivi de leur évolution durant la pratique d’une activité physique régulière chez des patients obèsesMaëva Durcin · 2020 · theses.fr (ABES)
- Mécanismes subcellulaires et moléculaires de la régulation de la balance énergétique par les neurones MC4RF. Mifsud · 2023 · theses.fr (ABES)
- Rationale of renewed efforts in developing MC4R modulators to treat metabolic disordersWenbo Feng, Qingtong Zhou, Ming‐Wei Wang · 2026 · Acta Pharmaceutica Sinica B
- Cardiometabolic regulation by adipocyte-derived leptin and the brain melanocortin systemJohn Edward Hall, Ana Carolina Mieko Omoto, Jussara Marcia do Carmo, Alexandre A. da Silva, Alan J. Mouton, Zhen Wang, Michael E. Hall · 2026 · Clinical Science
- The application of GLP-1 receptor agonists in obesity due to MC4R deficiencyMengmeng Ding, Yingying Luo, Linong Ji · 2026 · Metabolism and Target Organ Damage
- The causes of cachexia: key signals and the brainAideen Daly, Su Lei Yin, Anthony P. Coll · 2026 · Nature Reviews Endocrinology
- Case Reports for Copy Number Variations in Pediatric Non-Syndromic Obesity: New Insights From 2 Patients With MC4R DeletionsAndré Weber, Rainer Wimmer, Sophie Engfer, Eberhard Wiedersberg, Katrin-Janine Goldmann, Markus Stümm · 2026 · Molecular Syndromology
- Toward “Obesityomics”: Domain‐Specific Omics in Precision Obesity Medicine with a Brief AI PerspectiveNadia Abu Samra, Sara G. I. Suliman, Mohammed Al-Hadad, Dorret Irene Boomsma, Fadwa Alhantoobi, Maithah Ebraheim AlSamahi, Haneen Abufarajallah, Alia Al Tikriti, Zeyar Aung, Selena E. Richards et al. · 2026 · Obesity Reviews
- BindingDB Entry 50037102: Structure-activity relationships of the melanocortin tetrapeptide Ac-His-D-Phe-Arg-Trp-NH2 at the mouse melanocortin receptors. 4. Modifications at the Trp position.BindingDB · 2012 · UC San Diego
- BindingDB Entry 50037655: Mapping the binding site of melanocortin 4 receptor agonists: a hydrophobic pocket formed by I3.28(125), I3.32(129), and I7.42(291) is critical for receptor activation.BindingDB · 2012 · UC San Diego
- BindingDB Entry 50037040: Structure-activity relationships of the melanocortin tetrapeptide Ac-His-DPhe-Arg-Trp-NH(2) at the mouse melanocortin receptors: part 2 modifications at the Phe position.BindingDB · 2012 · UC San Diego
- BindingDB Entry 50037035: Structure-activity relationships of the melanocortin tetrapeptide Ac-His-DPhe-Arg-Trp-NH(2) at the mouse melanocortin receptors. 1. Modifications at the His position.BindingDB · 2012 · UC San Diego
- BindingDB Entry 50007962: Incorporation of Agouti-Related Protein (AgRP) Human Single Nucleotide Polymorphisms (SNPs) in the AgRP-Derived Macrocyclic Scaffold c[Pro-Arg-Phe-Phe-Asn-Ala-Phe-dPro] Decreases Melanocortin-4 Receptor Antagonist Potency and Results in the Discovery of Melanocortin-5 Receptor Antagonists.BindingDB · 2021 · UC San Diego