Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

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

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

Characterization of rare variants in MC4R in African American and/or Latino children with severe early onset obesity

(2019) Maria Caterina De Rosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous rare genetic variants in non-syndromic early-onset obesity

(2019) Clara Serra-Juhé et al.   INTERNATIONAL JOURNAL OF OBESITY

MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature

(2019) Abeer Al Tuwaijri et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study

(2019) Ayşehan Akıncı et al.   Journal of Clinical Research in Pediatric Endocrinology

Development of neuroendocrine neurons in the mammalian hypothalamus

(2018) Gonzalo Alvarez-Bolado   CELL AND TISSUE RESEARCH

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

VarAFT: a variant annotation and filtration system for human next generation sequencing data

(2018) Jean-Pierre Desvignes et al.   NUCLEIC ACIDS RESEARCH

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

(2018) Petra Loid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

ISL1 loss-of-function mutation contributes to congenital heart defects

(2018) Lan Ma et al.   HEART AND VESSELS

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

(2017) Maria Pettersson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies

(2017) Ana Carolina Proença da Fonseca et al.   JOURNAL OF DIABETES AND ITS COMPLICATIONS

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

(2017) Audrey E. Hendricks et al.   Scientific Reports

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

(2017) Clara Serra-Juhé et al.   PLoS Genetics

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

(2017) Patricia Blanchet et al.   PLoS Genetics

Disruption of the homeodomain transcription factor orthopedia homeobox ( Otp ) is associated with obesity and anxiety

(2017) Lee Moir et al.   Molecular Metabolism

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

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

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

(2016) Paul R. Kasher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

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

Hepatic adenylate cyclase 3 is upregulated by Liraglutide and subsequently plays a protective role in insulin resistance and obesity

(2016) Y Liang et al.   Nutrition & Diabetes

Adenylyl cyclase 3 haploinsufficiency confers susceptibility to diet-induced obesity and insulin resistance in mice

(2016) Tao Tong et al.   Scientific Reports

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Islet 1 specifies the identity of hypothalamic melanocortin neurons and is critical for normal food intake and adiposity in adulthood

(2015) Sofia Nasif et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

(2015) Suzanne I. M. Alsters et al.   PLoS One

Defect in MAPK Signaling As a Cause for Monogenic Obesity Caused By Inactivating Mutations in the Melanocortin-4 Receptor Gene

(2014) Shan He et al.   International Journal of Biological Sciences

Whole Exome Sequencing of Extreme Morbid Obesity Patients: Translational Implications for Obesity and Related Disorders

(2014) Gilberto Paz-Filho et al.   Genes

Conditional deletion of neurogenin-3 using Nkx2.1iCre results in a mouse model for the central control of feeding, activity and obesity

(2013) N. Anthwal et al.   Disease Models & Mechanisms

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

(2013) Shwetha Ramachandrappa et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

(2013) Eleanor Wheeler et al.   NATURE GENETICS

New Finnish growth references for children and adolescents aged 0 to 20 years: Length/height-for-age, weight-for-length/height, and body mass index-for-age

(2010) Antti Saari et al.   ANNALS OF MEDICINE

Differential requirements for neurogenin 3 in the development of POMC and NPY neurons in the hypothalamus

(2010) Michelle Pelling et al.   DEVELOPMENTAL BIOLOGY

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

(2010) Carlos E. Martinelli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Low Sympathetic Tone and Obese Phenotype in Oxytocin-deficient Mice

(2009) Claudia Camerino   Obesity