Severe Early-Onset Obesity, Adrenal Insufficiency and Red Hair Pigmentation Caused by POMC Mutations in Humans

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Clinical Pediatrics

• Publication date

  1999-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1177/000992289903800416
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• No references are available for this paper.

• Missense variants in FRS3 affect body mass index in populations of diverse ancestries

  2025cites this paper
• Targeted proteomics reveal α-MSH-like Enterobacterial ClpB protein in gut microbiota of patients with anorexia nervosa

  2025cites this paper
• Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions

  2025cites this paper
• Genetic Landscape of Obesity in Children: Research Advances and Prospects

  2025cites this paper
• Role of hypothalamus function in metabolic diseases and its potential mechanisms

  2025cites this paper
• The neurobiology of overeating.

  2025cites this paper
• The small GTPase Rap1 in POMC neurons regulates leptin actions and glucose metabolism

  2025cites this paper
• The expanding landscape of genetic causes of obesity

  2024cites this paper
• Exploring the therapeutic potential of precision medicine in rare genetic obesity disorders: a scientific perspective

  2024cites this paper
• Obesogens and Energy Homeostasis: Definition, Mechanisms of Action, Exposure, and Adverse Effects on Human Health

  2024cites this paper
• The role of macrophage and adipocyte mitochondrial dysfunction in the pathogenesis of obesity

  2024cites this paper
• Genetic Variations in AMPK, FOXO3A, and POMC Increase the Risk of Extreme Obesity

  2024cites this paper
• Alx3 deficiency disrupts energy homeostasis, alters body composition, and impairs hypothalamic regulation of food intake

  2024cites this paper
• Translational potential of mouse models of human metabolic disease.

  2024cites this paper
• Childhood obesity from the genes to the epigenome

  2024cites this paper
• Alpha-melanocyte-stimulating hormone contributes to an anti-inflammatory response to lipopolysaccharide

  2024cites this paper
• Genetic Obesity: The Current Treatment Options

  2024cites this paper
• Hypothalamic GABAergic Neurons Expressing Cellular Retinoic Acid Binding Protein 1 (CRABP1) Are Sensitive to Metabolic Status and Liraglutide in Male Mice

  2024cites this paper
• Anorexigenic neuropeptides as anti-obesity and neuroprotective agents: exploring the neuroprotective effects of anorexigenic neuropeptides

  2024cites this paper
• Hypoglycaemia in a Child Unmasks a Unique Association

  2024influential citation
• Melanocortin therapies to resolve fibroblast-mediated diseases

  2023cites this paper
• Hierarchical regulation of functionally antagonistic neuropeptides expressed in a single neuron pair

  2023cites this paper
• Neuroendocrine Effects on the Risk of Metabolic Syndrome in Children

  2023cites this paper
• Genetics: A Starting Point for the Prevention and the Treatment of Obesity

  2023cites this paper
• Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management

  2022cites this paper
• Iukfglkpgu hqt fkcipquku cpf vtgcvogpv qh cftgpcl kpuuhÞekgpe{ in adults

  2022cites this paper
• Microglia-specific knock-down of Bmal1 improves memory and protects mice from high fat diet-induced obesity

  2021cites this paper
• Recent advances in understanding the role of leptin in energy homeostasis

  2020cites this paper
• A Review on Role of Microbiome in Obesity and Antiobesity Properties of Probiotic Supplements

  2019cites this paper
• General Principles of Neuronal Co-transmission: Insights From Multiple Model Systems

  2019cites this paper
• Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

  2019cites this paper
• Epigenetic regulation of POMC; implications for nutritional programming, obesity and metabolic disease.

  2019cites this paper
• Monogene Adipositas

  2018cites this paper
• The Role of MicroRNA in the Modulation of the Melanocortinergic System

  2017cites this paper
• Investigating implications and mechanisms of diet induced obesity for multi organ function in a murine model of early sepsis

  2017cites this paper
• Monogene Adipositas

  2017cites this paper
• Qualitative and Quantitative Regulation of the Leptin Gene in vivo

  2016cites this paper
• Universitet-MSH stimulates glucose uptake in mouse muscle and phosphorylates Rab-GTPase-activating protein TBC 1 D 1 independently of AMPK

  2016cites this paper
• Genomic Footprints in Selected and Unselected Beef Cattle Breeds in Korea

  2016influential citation
• Partially Redundant Enhancers Cooperatively Maintain Mammalian Pomc Expression Above a Critical Functional Threshold

  2015cites this paper
• Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

  2015cites this paper
• 20 YEARS OF LEPTIN Human disorders of leptin action

  2014cites this paper
• Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond

  2014cites this paper
• Skin as a living coloring book: how epithelial cells create patterns of pigmentation

  2014cites this paper
• Genética de la obesidad infantil

  2014cites this paper
• Serotonin and the regulation of mammalian energy balance

  2013cites this paper
• Pathogenesis of the Metabolic Syndrome: Insights from Monogenic Disorders

  2013cites this paper
• CNS regulation of appetite.

  2012cites this paper
• An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity

  2012cites this paper
• Genetic approaches to understanding human obesity.

  2011cites this paper
• Hypoxia-Inducible Factor Directs POMC Gene to Mediate Hypothalamic Glucose Sensing and Energy Balance Regulation

  2011cites this paper
• Clinical, Biological and Genetic Analysis of 8 Cases of Congenital Isolated Adrenocorticotrophic Hormone (ACTH) Deficiency

  2011cites this paper
• FTO Biology and Obesity: Why Do a Billion of Us Weigh 3 kg More?

  2011influential citation
• Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria

  2010cites this paper
• Shades of meaning: the pigment‐type switching system as a tool for discovery

  2010cites this paper
• Involvement of the Melanocortin-1 Receptor in Acute Pain and Pain of Inflammatory but Not Neuropathic Origin

  2010cites this paper
• Perimenopausal Obesity

  2010cites this paper
• Effects of selective modulation of the central melanocortin-3-receptor on food intake and hypothalamic POMC expression.

  2008cites this paper
• Nicotine regulates mRNA expression of feeding peptides in the arcuate nucleus in neonatal rat pups

  2007cites this paper
• Appetite Regulation: An Overview

  2007influential citation
• Identifying the genetic determinants of emotionality in humans; insights from rodents.

  2007cites this paper
• The leptin-dependent and -independent melanocortin signaling system: regulation of feeding and energy expenditure.

  2007cites this paper
• Obésité humaine: vers les approches génomiques fonctionnelles.

  2006influential citation
• Expression of Melanocortin MC3 and MC4 Receptor mRNAs by Neuropeptide Y Neurons in the Rat Arcuate Nucleus

  2006cites this paper
• Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity

  2005cites this paper
• Unabated anorexic and enhanced thermogenic responses to melanotan II in diet-induced obese rats despite reduced melanocortin 3 and 4 receptor expression.

  2004cites this paper
• Melanocortin ligands: 30 years of structure–activity relationship (SAR) studies

  2004cites this paper
• γ-MSH, sodium metabolism, and salt-sensitive hypertension

  2004cites this paper
• Roles of Leptin and Ghrelin during the Perinatal Period

  2003cites this paper
• The stages of vertebrate evolutionary radiation

  2003cites this paper
• Disregulation of proopiomelanocortin and contagious maladaptive behavior.

  2002cites this paper
• Susceptibility gene discovery for common metabolic and endocrine traits.

  2002cites this paper
• Pro-opiomelanocortin processing in the hypothalamus: impact on melanocortin signalling and obesity.

  2002cites this paper
• InsCAGACC Polymorphism of the Melanocortin Receptor 3 Gene is Associated in Human with Fat Level and Partitioning in Interaction with Body

  2002cites this paper
• Hypothalamic, Metabolic, and Behavioral Responses to Pharmacological Inhibition of CNS Melanocortin Signaling in Rats

  2001cites this paper
• Recent insights into body weight control: From physiology to pathology

  2001cites this paper
• Obesity — a genetic disease of adipose tissue?

  2000cites this paper
• The perils of portliness: causes and consequences of visceral adiposity.

  2000cites this paper
• The acquisition of obesity: insights from cellular and genetic research

  2000cites this paper
• Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.

  2000influential citation
• Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity

  1999cites this paper
• From Lesions to Leptin: Review Hypothalamic Control of Food Intake and Body Weight

  1999cites this paper
• Integration of NPY, AGRP, and melanocortin signals in the hypothalamic paraventricular nucleus: evidence of a cellular basis for the adipostat.

  1999cites this paper
• Mice lacking melanin-concentrating hormone are hypophagic and lean

  1998cites this paper
• Human Semaphorin 3 Variants Link Melanocortin Circuit Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance Development and Energy Balance

  year unknowncites this paper
• ENDOCRINOLOGÍA Y NUTRICIÓN

  year unknowncites this paper