List of works - Julia M. Keogh

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance

scientific article published in February 2006

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

scientific article

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

scientific article published on January 2007

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

scientific article (publication date: 20 March 2003)

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

scientific article

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

scientific article published on 18 September 2008

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

scientific article

Genetic architecture of human thinness compared to severe obesity

scientific article published on 24 January 2019

Heterozygosity for aPOMC-Null Mutation and Increased Obesity Risk in Humans

scientific article published on 01 September 2006

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

scientific article

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

scientific article

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene

scientific article published on December 2006

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

scientific article

Leptin mediates the increase in blood pressure associated with obesity

scientific article

Leptin regulates striatal regions and human eating behavior

scientific article published on 09 August 2007

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis

scientific article

Modulation of blood pressure by central melanocortinergic pathways

scientific article

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway

scientific article published on 12 August 2008

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

article

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

scientific article published on 3 November 2010

Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues

scientific article

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

scientific article published on 17 June 2013

Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels

scientific article

Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor

scientific article published in October 2004

The central melanocortin system directly controls peripheral lipid metabolism

scientific article

List of works by Julia M. Keogh

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

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

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

Genetic architecture of human thinness compared to severe obesity

Heterozygosity for aPOMC-Null Mutation and Increased Obesity Risk in Humans

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

Leptin mediates the increase in blood pressure associated with obesity

Leptin regulates striatal regions and human eating behavior

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis

Modulation of blood pressure by central melanocortinergic pathways

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

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

Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues

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

Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels

Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor

The central melanocortin system directly controls peripheral lipid metabolism