Rare genetic forms of obesity: From gene to therapy

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

(2019) Agatha A. van der Klaauw et al.   CELL

Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment

(2019) Peter Kühnen et al.   TRENDS IN MOLECULAR MEDICINE

Monogenic Obesity Mutations Lead to Less Weight Loss After Bariatric Surgery: a 6-Year Follow-Up Study

(2019) Yangyang Li et al.   OBESITY SURGERY

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity

(2019) Luca A. Lotta et al.   CELL

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

(2019) Yongjie Yang et al.   Nature Communications

Obesity‐associated mutant MC4 receptors with normal Gα s coupling frequently exhibit other discoverable pharmacological and biochemical defects

(2019) Taneisha Gillyard et al.   JOURNAL OF NEUROENDOCRINOLOGY

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

(2019) Morgane Baron et al.   NATURE MEDICINE

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

(2019) M.I. Cooiman et al.   OBESITY SURGERY

Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist

(2018) Eva W. Iepsen et al.   Cell Metabolism

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency

(2018) Katja Kohlsdorf et al.   INTERNATIONAL JOURNAL OF OBESITY

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment

(2018) Kristin L Ayers et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

(2018) Lotte Kleinendorst et al.   JOURNAL OF MEDICAL GENETICS

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

(2018) Niels Grarup et al.   NATURE GENETICS

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

(2018) Sadia Saeed et al.   NATURE GENETICS

MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

(2018) Karine Clément et al.   NATURE MEDICINE

Gain‐of‐function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta‐analysis

(2018) A. Qasim et al.   Obesity Reviews

High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children

(2017) Lydia Foucan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

(2017) Valérie Turcot et al.   NATURE GENETICS

Ethnic and population differences in the genetic predisposition to human obesity

(2017) C. Stryjecki et al.   Obesity Reviews

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

(2017) Dennis Löffler et al.   Molecular Metabolism

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency

(2017) Tinh-Hai Collet et al.   Molecular Metabolism

Interindividual Variation in DNA Methylation at a Putative POMC Metastable Epiallele Is Associated with Obesity

(2016) Peter Kühnen et al.   Cell Metabolism

The importance of gene-environment interactions in human obesity

(2016) H. Reddon et al.   CLINICAL SCIENCE

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

(2016) Amélie Bonnefond et al.   DIABETES CARE

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders

(2016) Pieter Stijnen et al.   ENDOCRINE REVIEWS

Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort

(2016) H Vollbach et al.   INTERNATIONAL JOURNAL OF OBESITY

Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

(2016) Peter Kühnen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016

(2016) Hélène Huvenne et al.   Obesity Facts

The Hunger Genes: Pathways to Obesity

(2015) Agatha A. van der Klaauw et al.   CELL

Seven Novel DeleteriousLEPRMutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect

(2015) Hélène Huvenne et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

RM-493, a Melanocortin-4 Receptor (MC4R) Agonist, Increases Resting Energy Expenditure in Obese Individuals

(2015) Kong Y. Chen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

Biologically Inactive Leptin and Early-Onset Extreme Obesity

(2015) Martin Wabitsch et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic variants inLEP,LEPR, andMC4Rexplain 30% of severe obesity in children from a consanguineous population

(2015) Sadia Saeed et al.   Obesity

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

(2014) J Philippe et al.   INTERNATIONAL JOURNAL OF OBESITY

Rescue of defective MC4R cell-surface expression and signaling by a novel pharmacoperone Ipsen 17

(2014) X.-H. Wang et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

(2013) Laura R. Pearce et al.   CELL

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort

(2013) Martín G. Martín et al.   GASTROENTEROLOGY

Association between melanocortin-4 receptor mutations and eating behaviors in obese patients: a case–control study

(2013) M Valette et al.   INTERNATIONAL JOURNAL OF OBESITY

The melanocortin-4 receptor as target for obesity treatment: a systematic review of emerging pharmacological therapeutic options

(2013) L Fani et al.   INTERNATIONAL JOURNAL OF OBESITY

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

(2013) Graeme R. Frank et al.   MOLECULAR GENETICS AND METABOLISM

NovelLEPRmutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing

(2013) Sadia Saeed et al.   Obesity

Chronic Treatment With a Melanocortin-4 Receptor Agonist Causes Weight Loss, Reduces Insulin Resistance, and Improves Cardiovascular Function in Diet-Induced Obese Rhesus Macaques

(2012) P. Kievit et al.   DIABETES

Effects of Leptin and Melanocortin Signaling Interactions on Pubertal Development and Reproduction

(2012) Davelene D. Israel et al.   ENDOCRINOLOGY

Eating behaviour in obese patients with melanocortin-4 receptor mutations: a literature review

(2012) M Valette et al.   INTERNATIONAL JOURNAL OF OBESITY

Homozygous Leptin Receptor Mutation Due to Uniparental Disomy of Chromosome 1: Response to Bariatric Surgery

(2012) Johanne Le Beyec et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pregnancy in a Woman with a Leptin-Receptor Mutation

(2012) Jacky Nizard et al.   NEW ENGLAND JOURNAL OF MEDICINE

Melanocortin-4 Receptor Mutations and Polymorphisms Do Not Affect Weight Loss after Bariatric Surgery

(2012) Marion Valette et al.   PLoS One

Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity

(2011) J. W. M. Creemers et al.   DIABETES

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

(2010) M. Mencarelli et al.   HUMAN MOLECULAR GENETICS

Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response

(2010) Pierre Roubert et al.   JOURNAL OF ENDOCRINOLOGY

Melanocortin Signalling and the Regulation of Blood Pressure in Human Obesity

(2010) J. R. Greenfield   JOURNAL OF NEUROENDOCRINOLOGY

Lifestyle intervention in obese children with non-alcoholic fatty liver disease: 2-year follow-up study

(2009) T Reinehr et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

(2009) Beatrice Dubern et al.   PEDIATRIC RESEARCH

Unexpected Endocrine Features and Normal Pigmentation in a Young Adult Patient Carrying a Novel Homozygous Mutation in the POMC Gene

(2008) Karine Clément et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM