Associated Papers
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort.
Rama M et al.
Obesity Science & Practice, 2025
Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study.
Jia RY et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R et al.
International Journal of Obesity (2005), 2025
Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity.
Partenope C et al.
Scientific Reports, 2025
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
Leptin-Melanocortin pathway variants and gastric emptying in patients with obesity.
Cifuentes L et al.
Neurogastroenterology and Motility, 2024
The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.
Melendez-Montañez JM et al.
Genes, 2024
Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications.
Donato K et al.
European Review for Medical and Pharmacological Sciences, 2023
Type 2 Diabetes Remission in Patients with Heterozygous Variants in the Leptin-Melanocortin Pathway after Roux-en-Y Gastric Bypass: A Matched Case-Control Study.
Anazco D et al.
Obesity Surgery, 2023
Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.
Al-Humadi AW et al.
Journal of Clinical Medicine, 2023
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity.
Manco L et al.
European Journal of Medical Genetics, 2023
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
Effects of Heterozygous Variants in the Leptin-Melanocortin Pathway on Roux-en-Y Gastric Bypass Outcomes: a 15-Year Case-Control Study.
Campos A et al.
Obesity Surgery, 2022
Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.
Šket R et al.
Frontiers in Endocrinology, 2022
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.
Courbage S et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.
da Fonseca ACP et al.
Eating and Weight Disorders : Ewd, 2021
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.
Cooiman MI et al.
Obesity Surgery, 2020
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Kleinendorst L et al.
Plos One, 2020
Benefits and limitations of genome-wide association studies.
Tam V et al.
Nature Reviews. Genetics, 2019
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
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.
Qasim A et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2019
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L et al.
Journal of Medical Genetics, 2018
Identification of genetic basis of obesity and mechanistic link of genes and lipids in Pakistani population.
Shabana et al.
Bioscience Reports, 2018
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
Çetinkaya S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
Molecular genetics of human obesity: A comprehensive review.
Singh RK et al.
Comptes Rendus Biologies, 2017
Novel and ultra-rare damaging variants in neuropeptide signaling are associated with disordered eating behaviors.
Lutter M et al.
Plos One, 2017
Prevalence of POMC R236G mutation in Pakistan.
Shabana et al.
Obesity Research & Clinical Practice, 2016
Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture.
Caso E et al.
Injury, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Obesity, More than a 'Cosmetic' Problem. Current Knowledge and Future Prospects of Human Obesity Genetics.
Shabana et al.
Biochemical Genetics, 2016
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
The association of proopiomelanocortin polymorphisms with the risk of major depressive disorder and the response to antidepressants via interactions with stressful life events.
Chang HS et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2015
The genetics of human obesity.
Xia Q et al.
Annals of the New York Academy of Sciences, 2013
First evidence of a polygenic susceptibility to pain in a pediatric cohort.
Mamie C et al.
Anesthesia and Analgesia, 2013
The regulated secretory pathway and human disease: insights from gene variants and single nucleotide polymorphisms.
Lin WJ et al.
Frontiers in Endocrinology, 2013
The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.
Biebermann H et al.
Handbook of Experimental Pharmacology, 2012
Identification of POMC exonic variants associated with substance dependence and body mass index.
Wang F et al.
Plos One, 2012
Genetics of fat tissue accumulation in pigs: a comparative approach.
Switonski M et al.
Journal of Applied Genetics, 2010
The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature.
Lee YS
Annals of the Academy of Medicine, Singapore, 2009
Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.
Creemers JW et al.
The Journal of Clinical Endocrinology and Metabolism, 2008