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Lista de obras de Stephen O'Rahilly

"Treasure Your Exceptions"-Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture

artículo científico publicado en 2021

20 years of leptin: human disorders of leptin action

artículo científico publicado en 2014

20 years of leptin: what we know and what the future holds.

artículo científico publicado en 2014

A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs

artículo científico publicado en 2016

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

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

artículo científico publicado en 2006

A Pharmacogenetic Approach to the Treatment of Patients with PPARG Mutations.

artículo científico publicado en 2018

A Quantitative Trait Locus on Chromosome 18q for Physical Activity and Dietary Intake in Hispanic Children*

article

A clinical approach to severe insulin resistance

artículo científico publicado en 2007

A comparative study of the central effects of specific proopiomelancortin (POMC)-derived melanocortin peptides on food intake and body weight in pomc null mice

artículo científico publicado en 2006

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

artículo científico publicado en 2004

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

artículo científico publicado en 2009

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

artículo científico publicado en 2004

A genome-wide association meta-analysis identifies new childhood obesity loci

artículo científico publicado en 2012

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels

artículo científico publicado en 2009

A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q

artículo científico publicado en 2001

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

artículo científico publicado en 2016

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice

artículo científico publicado en 2008

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

scholarly article

AMPK is required for exercise to enhance insulin sensitivity in skeletal muscles

artículo científico publicado en 2017

Abdominal subcutaneous adipose tissue morphology in a patient with a dominant-negative mutation (P467L) in the nuclear receptor peroxisome proliferator-activated receptor-gamma (PPARG) gene

artículo científico publicado en 2010

Activation of peroxisome proliferator-activated receptor (PPAR)delta promotes reversal of multiple metabolic abnormalities, reduces oxidative stress, and increases fatty acid oxidation in moderately obese men.

artículo científico publicado en 2007

Acute effects of PYY3-36 on food intake and hypothalamic neuropeptide expression in the mouse.

artículo científico publicado en 2003

Adipogenesis at a glance

artículo científico

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations

artículo científico publicado en 2007

Adipose depot-specific expression of cIAP2 in human preadipocytes and modulation of expression by serum factors and TNFα

artículo científico publicado en 2001

Adult onset global loss of the fto gene alters body composition and metabolism in the mouse

artículo científico publicado en 2013

An activating mutation of AKT2 and human hypoglycemia.

artículo científico publicado en 2011

An appreciation of Robert Turner

artículo científico publicado en 2008

Analysis of TBC1D4 in patients with severe insulin resistance.

artículo científico publicado en 2010

Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes

artículo científico publicado en 2007

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

artículo científico publicado en 2013

Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles

artículo científico publicado en 2000

Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism

article

Arachidonic acid stimulates glucose uptake in 3T3-L1 adipocytes by increasing GLUT1 and GLUT4 levels at the plasma membrane. Evidence for involvement of lipoxygenase metabolites and peroxisome proliferator-activated receptor gamma.

artículo científico publicado en 2000

Assessment of acute and chronic pharmacological effects on energy expenditure and macronutrient oxidation in humans: responses to ephedrine

artículo científico publicado en 2010

Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

artículo científico publicado en 2016

Association Between Physical Activity and Blood Pressure Is Modified by Variants in the G-Protein Coupled Receptor 10

article

Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility

artículo científico publicado en 2003

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

scientific article published on 01 December 2018

Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes

artículo científico publicado en 2018

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

artículo científico publicado en 2008

Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide receptor with blood pressure, but not obesity, in a U.K. Caucasian population

artículo científico publicado en 2003

Associations of vomiting and antiemetic use in pregnancy with levels of circulating GDF15 early in the second trimester: A nested case-control study

artículo científico publicado en 2018

C/EBP transcription factors regulate SREBP1c gene expression during adipogenesis

artículo científico publicado en 2009

CNS leptin action modulates immune response and survival in sepsis.

artículo científico publicado en 2010

Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action

artículo científico publicado en 2003

Characterisation of proguanylin expressing cells in the intestine - evidence for constitutive luminal secretion

scientific article published on 30 October 2019

Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo

artículo científico publicado en 2003

Class II phosphoinositide 3-kinase is activated by insulin but not by contraction in skeletal muscle.

artículo científico publicado en 2001

Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

Common variants near MC4R are associated with fat mass, weight and risk of obesity

artículo científico publicado en 2008

Complement abnormalities in acquired lipodystrophy revisited

artículo científico publicado en 2008

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

artículo científico publicado en 2004

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia

artículo científico publicado en 2017

Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.

artículo científico publicado en 2017

Correction: A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice.

artículo científico publicado en 2008

Correction: Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action

artículo científico publicado en 2003

Decreased brown adipocyte recruitment and thermogenic capacity in mice with impaired peroxisome proliferator-activated receptor (P465L PPARgamma) function

scientific article published on 15 September 2006

Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice

artículo científico publicado en 2009

Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.

artículo científico publicado en 2003

Depletion of stromal cells expressing fibroblast activation protein-α from skeletal muscle and bone marrow results in cachexia and anemia.

artículo científico publicado en 2013

Depot-related and thiazolidinedione-responsive expression of uncoupling protein 2 (UCP2) in human adipocytes

scientific article published on 01 May 2000

Development, factor structure and application of the Dog Obesity Risk and Appetite (DORA) questionnaire

artículo científico publicado en 2015

Differential lipid partitioning between adipocytes and tissue macrophages modulates macrophage lipotoxicity and M2/M1 polarization in obese mice ⬇️

artículo científico publicado en 2011

Digenic inheritance of severe insulin resistance in a human pedigree

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Distinct modulatory effects of satiety and sibutramine on brain responses to food images in humans: a double dissociation across hypothalamus, amygdala, and ventral striatum

artículo científico publicado en 2010

Divergent effects of central melanocortin signalling on fat and sucrose preference in humans

artículo científico publicado en 2016

Does physical activity energy expenditure explain the between-individual variation in plasma leptin concentrations after adjusting for differences in body composition?

artículo científico publicado en 2003

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

artículo científico publicado en 2000

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

artículo científico publicado en 1999

ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis

scientific journal article

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

artículo científico publicado en 2011

Effects of recombinant leptin therapy in a child with congenital leptin deficiency.

artículo científico publicado en 1999

Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy

artículo científico publicado en 2004

Epidemiological evidence against a role for C-reactive protein causing leptin resistance.

artículo científico publicado en 2012

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

European paediatric non-alcoholic fatty liver disease registry (EU-PNAFLD): Design and rationale

artículo científico publicado en 2018

Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes

artículo científico publicado en 2001

Examining the Candidacy of Ghrelin as a Gene Responsible for Variation in Adult Stature in a United Kingdom Population with Type 2 Diabetes

article

Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects

artículo científico publicado en 2004

FTO expression is regulated by availability of essential amino acids.

artículo científico publicado en 2012

FTO is necessary for the induction of leptin resistance by high-fat feeding

artículo científico

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene

scientific article published on 01 April 2004

Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm.

artículo científico publicado en 2014

Fatty acid metabolism in patients with PPARgamma mutations

artículo científico publicado en 2008

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

artículo científico publicado en 2018

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

artículo científico publicado en 2007

Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.

artículo científico publicado en 2006

Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor

artículo científico publicado en 2008

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

artículo científico publicado en 2014

GDF15 Concentrations in Maternal Serum Associated with Vomiting in Pregnancy: the Cambridge Baby Growth Study

scholarly article published 17 November 2017

GDF15-From Biomarker to Allostatic Hormone

artículo científico publicado en 2017

GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity

artículo científico publicado en 2018

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

artículo científico publicado en 2016

Genetic Syndromes of Severe Insulin Resistance

artículo científico publicado en 2011

Genetic architecture of human thinness compared to severe obesity

artículo científico publicado en 2019

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

artículo científico publicado en 2011

Genetic factors in human obesity.

artículo científico publicado en 2007

Genetic factors in type 2 diabetes: the end of the beginning?

artículo científico publicado en 2005

Genetic syndromes of severe insulin resistance

artículo científico publicado en 2018

Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity

artículo científico publicado en 2009

Genetic variants and common diseases--better late than never

scientific article published on 01 July 2006

Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.

artículo científico publicado en 2004

Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1.

artículo científico publicado en 2002

Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians

artículo científico publicado en 2004

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

artículo científico publicado en 2011

Genetics of obesity

artículo científico publicado en 2006

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

scientific journal article

Harveian Oration 2016: Some observations on the causes and consequences of obesity.

artículo científico publicado en 2016

Heterogeneity of hypothalamic pro-opiomelanocortin-expressing neurons revealed by single-cell RNA sequencing

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

artículo científico publicado en 2012

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

scientific article published on 17 January 2019

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

artículo científico publicado en 2017

Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5)

artículo científico publicado en 2011

Human genetics illuminates the paths to metabolic disease

artículo científico publicado en 2009

Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma

artículo científico publicado en 2003

Human obesity and insulin resistance: lessons from experiments of nature.

artículo científico publicado en 2007

Human obesity and type 2 diabetes are associated with alterations in SREBP1 isoform expression that are reproduced ex vivo by tumor necrosis factor-alpha

artículo científico publicado en 2002

Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental conditions

artículo científico publicado en 2008

Hypercalcaemia associated with granulomatous lymphadenitis and elevated 1,25 dihydroxyvitamin D concentration in a dog

scientific article published on 01 April 2006

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors.

artículo científico publicado en 2001

Hypoglycemia due to an insulin binding antibody in a patient with an IgA-kappa myeloma

artículo científico publicado en 2007

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

artículo científico publicado en 2009

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

artículo científico publicado en 2017

Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.

artículo científico publicado en 2004

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

artículo científico publicado en 2014

Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome.

artículo científico publicado en 2018

Hypothalamic-specific manipulation of Fto, the ortholog of the human obesity gene FTO, affects food intake in rats.

artículo científico publicado en 2010

IRS2 variants and syndromes of severe insulin resistance

artículo científico publicado en 2009

Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to fasting and leptin.

artículo científico publicado en 2010

Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome?

artículo científico publicado en 2016

Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization

artículo científico publicado en 2002

Influence of leptin on arterial distensibility: a novel link between obesity and cardiovascular disease?

artículo científico publicado en 2002

Insights into obesity and insulin resistance from the study of extreme human phenotypes

artículo científico publicado en 2002

Insulin-like peptide 5 is an orexigenic gastrointestinal hormone

scientific journal article

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

artículo científico publicado en 2016

International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors

artículo científico publicado en 2006

Investigating the involvement of the ATF6α pathway of the unfolded protein response in adipogenesis.

artículo científico publicado en 2011

Is leptin an important physiological regulator of CRP?

artículo científico publicado en 2007

Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers sterol regulatory element-binding protein-1c and LXRalpha

artículo científico publicado en 2002

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

artículo científico publicado en 2013

Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate.

artículo científico publicado en 2012

Knockdown of diacylglycerol kinase delta inhibits adipocyte differentiation and alters lipid synthesis

artículo científico publicado en 2013

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

artículo científico publicado en 2000

Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies

scientific article published on March 2007

Lamin expression in human adipose cells in relation to anatomical site and differentiation state

artículo científico publicado en 2002

Large, rare chromosomal deletions associated with severe early-onset obesity

artículo científico publicado en 2010

Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes.

artículo científico publicado en 2005

Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice

artículo científico publicado en 2006

Leptin mediates the increase in blood pressure associated with obesity

artículo científico publicado en 2014

Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity

artículo científico publicado en 2005

Leptin regulates peripheral lipid metabolism primarily through central effects on food intake

artículo científico publicado en 2008

Leptin regulates striatal regions and human eating behavior

artículo científico publicado en 2007

Leptin therapy in lipodystrophy

artículo científico publicado en 2009

Leptin: a pivotal regulator of human energy homeostasis

artículo científico publicado en 2009

Lipodystrophy: metabolic insights from a rare disorder ⬇️

artículo científico publicado el 24 de septiembre de 2010

Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol.

scientific article published on 22 April 2016

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

artículo científico publicado en 2010

Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency

artículo científico publicado en 2011

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

scientific journal article

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

artículo científico publicado en 2009

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

artículo científico publicado en 2015

Mapping cis- and trans-regulatory effects across multiple tissues in twins

artículo científico publicado en 2012

Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes

artículo científico publicado en 2015

Medical training in the UK: sleepwalking to disaster

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Melanocortin receptors weigh in.

artículo científico publicado en 2004

Metabolic Precision Medicines: Curing POMC Deficiency

artículo científico publicado en 2016

Metabolic insights from extreme human insulin resistance phenotypes

artículo científico

Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36).

scholarly article

Microarray analysis of insulin and insulin-like growth factor-1 (IGF-1) receptor signaling reveals the selective up-regulation of the mitogen heparin-binding EGF-like growth factor by IGF-1.

artículo científico publicado en 2002

Minireview: human obesity-lessons from monogenic disorders

artículo científico publicado en 2003

Mitochondrial dysfunction in patients with primary congenital insulin resistance

artículo científico publicado en 2011

Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy

artículo científico publicado en 2012

Modernising Medical Careers, Medical Training Application Service, and the Postgraduate Medical Education and Training Board: time for the emperors to don their clothes

artículo científico publicado en 2007

Modulation of blood pressure by central melanocortinergic pathways

artículo científico publicado en 2008

Molecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene

article

Monogenic human obesity syndromes.

artículo científico publicado en 2004

Monogenic obesity in humans

artículo científico publicado en 2005

Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.

artículo científico publicado en 2008

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

artículo científico publicado en 2012

Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake, and proximal insulin signaling

artículo científico publicado en 2005

Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.

artículo científico publicado en 2004

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

artículo científico publicado en 2014

Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

article

New advances in the genetics of early onset obesity

scientific article published on 01 October 2005

No Evidence for Linkage at Candidate Type 2 Diabetes Susceptibility Loci on Chromosomes 12 and 20 in United Kingdom Caucasians

artículo científico publicado en 2000

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

artículo científico publicado en 2006

Novel leptin-regulated genes revealed by transcriptional profiling of the hypothalamic paraventricular nucleus

artículo científico publicado en 2008

Obesity and FTO: Changing Focus at a Complex Locus

artículo científico publicado en 2014

Obesity and diabetes: an avalanche of new information

artículo científico publicado en 2000

Obesity associated genetic variation in FTO is associated with diminished satiety

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Obesity therapy: altering the energy intake-and-expenditure balance sheet

artículo científico publicado en 2002

Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation.

artículo científico

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

artículo científico publicado en 2014

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders

artículo científico publicado en 2016

PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max.

artículo científico publicado en 2003

PPAR gamma and human metabolic disease

artículo científico publicado en 2006

PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.

artículo científico publicado en 2007

Paradoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies

artículo científico publicado en 2007

Partial leptin deficiency and human adiposity.

artículo científico publicado en 2001

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

artículo científico publicado en 2009

Peptide YY3-36 and satiety: clarity or confusion?

artículo científico publicado en 2004

Perilipin deficiency and autosomal dominant partial lipodystrophy

scientific article published on February 2011

Peripheral administration of the N-terminal pro-opiomelanocortin fragment 1-28 to Pomc-/- mice reduces food intake and weight but does not affect adrenal growth or corticosterone production

scientific article published on August 2006

Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in proopiomelanocortin null mice treated with corticosterone

artículo científico publicado en 2007

Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity

artículo científico publicado en 2007

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

artículo científico publicado en 2003

Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction: Clinical utility in severe insulin resistance

artículo científico publicado en 2008

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

artículo científico publicado en 2009

Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR gamma agonists is maintained in cells expressing a PPAR gamma dominant-negative mutant: evidence for selectivity in the downstream responses to PPAR gamma activation.

artículo científico publicado en 2001

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

article published in 2007

Prevalence of loss-of-function FTO mutations in lean and obese individuals

artículo científico publicado en 2009

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

artículo científico publicado en 2008

Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference

artículo científico publicado en 2007

Proopiomelanocortin and energy balance: insights from human and murine genetics

artículo científico publicado en 2004

Proopiomelanocortin-deficient mice are hypersensitive to the adverse metabolic effects of glucocorticoids

artículo científico publicado en 2005

Prospective functional classification of all possible missense variants in PPARG.

artículo científico publicado en 2016

Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy

artículo científico publicado en 2004

Psychiatric co-morbidities in patients attending specialist obesity services in the UK.

artículo científico publicado en 2006

Quantitative mass spectrometry for human melanocortin peptides in vitro and in vivo suggests prominent roles for β-MSH and desacetyl α-MSH in energy homeostasis

article

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Regional differences in the response of human pre-adipocytes to PPARgamma and RXRalpha agonists

scientific journal article

Regulation of tumour necrosis factor-alpha release from human adipose tissue in vitro

scientific article published on 01 October 1999

Resistin: a new link between obesity and insulin resistance?

artículo científico publicado en 2001

Role for the obesity-related FTO gene in the cellular sensing of amino acids

artículo científico publicado en 2013

Role of the POZ zinc finger transcription factor FBI-1 in human and murine adipogenesis.

artículo científico publicado en 2003

Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma

artículo científico publicado en 2005

Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1.

artículo científico publicado en 2017

Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis

artículo científico publicado en 2015

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Sequential regulation of diacylglycerol acyltransferase 2 expression by CAAT/enhancer-binding protein beta (C/EBPbeta) and C/EBPalpha during adipogenesis

artículo científico publicado en 2007

Serotonin 5-HT2C receptor agonist promotes hypophagia via downstream activation of melanocortin 4 receptors

artículo científico publicado en 2007

Serotonin activates the hypothalamic-pituitary-adrenal axis via serotonin 2C receptor stimulation

artículo científico publicado en 2007

Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome

artículo científico publicado en 2003

Set points, settling points and some alternative models: theoretical options to understand how genes and environments combine to regulate body adiposity

artículo científico publicado en 2011

Severe hypo-alpha-lipoproteinemia during treatment with rosiglitazone

artículo científico publicado en 2004

Severe hypoinsulinaemic hypoglycaemia in a premature infant associated with poor weight gain and reduced adipose tissue

artículo científico publicado en 2007

Severe insulin resistance due to anti-insulin antibodies: response to plasma exchange and immunosuppressive therapy.

artículo científico publicado en 2009

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

artículo científico publicado en 2013

Shedding pounds after going under the knife: Guts over glory—why diets fail

artículo científico publicado en 2012

Significant Linkage of BMI to Chromosome 10p in the U.K. Population and Evaluation of GAD2 as a Positional Candidate

artículo científico publicado en 2006

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

artículo científico publicado en 2003

SnapShot: the hormonal control of food intake.

artículo científico publicado en 2008

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

artículo científico publicado en 2019

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

artículo científico publicado en 2004

Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits

artículo científico publicado en 2004

Successful treatment of Type B insulin resistance in a patient with otherwise quiescent systemic lupus erythematosus.

artículo científico publicado en 2005

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

artículo científico publicado en 2008

TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population

artículo científico publicado en 2007

Tamoxifen-induced anorexia is associated with fatty acid synthase inhibition in the ventromedial nucleus of the hypothalamus and accumulation of malonyl-CoA.

artículo científico publicado en 2006

The GPR54 gene as a regulator of puberty

artículo científico publicado en 2003

The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis involving 13,949 individuals

artículo científico publicado en 2008

The Imprinted Gene Peg3 Is Not Essential for Tumor Necrosis Factor α Signaling

article

The Wnt antagonist Dickkopf-1 and its receptors are coordinately regulated during early human adipogenesis.

artículo científico publicado en 2006

The central melanocortin system directly controls peripheral lipid metabolism

artículo científico publicado en 2007

The effects of neurokinin B upon gonadotrophin release in male rodents.

artículo científico publicado en 2009

The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin

artículo científico publicado en 2004

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The hormonal control of food intake

artículo científico publicado en 2007

The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation

artículo científico publicado en 2008

The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1.

scientific article published on 26 December 2012

The link between nutritional status and insulin sensitivity is dependent on the adipocyte-specific peroxisome proliferator-activated receptor-gamma2 isoform

artículo científico publicado en 2005

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.

artículo científico publicado en 2017

The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation

artículo científico publicado en 2003

The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase

artículo científico publicado en 2007

The peroxisome proliferator-activated receptor-gamma regulates murine pyruvate carboxylase gene expression in vivo and in vitro

artículo científico publicado en 2005

The transcription factors Egr1 and Egr2 have opposing influences on adipocyte differentiation.

artículo científico publicado en 2009

Transcript and metabolite analysis of the effects of tamoxifen in rat liver reveals inhibition of fatty acid synthesis in the presence of hepatic steatosis

artículo científico publicado en 2005

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity

artículo científico publicado en 2020

Treatment with recombinant human insulin-like growth factor (rhIGF)-I/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance

artículo científico publicado en 2010

Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity.

artículo científico publicado en 2016

Triple H syndrome: a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis

artículo científico publicado en 2000

Trophoblast organoids as a model for maternal-fetal interactions during human placentation

scientific article published on 28 November 2018

Tumor necrosis factor-induced cytotoxicity is not related to rates of mitochondrial morphological abnormalities or autophagy-changes that can be mediated by TNFR-I or TNFR-II.

artículo científico publicado en 1998

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

artículo científico publicado en 2004

Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.

artículo científico publicado en 2003

Uncoupling protein 2: Adiposity angel and diabetes devil?

artículo científico publicado en 2001

Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is negatively correlated with body mass index in a UK Caucasian population

artículo científico publicado en 2001

Uncovering the biology of FTO

artículo científico

Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance

artículo científico publicado en 2005

WNT10B mutations in human obesity.

artículo científico publicado en 2006

GDF15 proporciona una señal endocrina de estrés nutricional en ratones y humanos

artículo científico publicado en 2019

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