Stephen O'Rahilly | Academic Influence

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Stephen O'Rahilly

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#2090

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#3363

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Biochemistry

#385

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#458

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Stephen O'Rahilly

Philosophy

#3733

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#5977

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#1381

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#2122

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Biology
Philosophy

Stephen O'Rahilly's Degrees

Masters Medicine National University of Ireland
PhD Biochemistry University of Oxford

Why Is Stephen O'Rahilly Influential?

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According to Wikipedia, Sir Stephen Patrick O'Rahilly is an Irish-British physician and scientist known for his research into the molecular pathogenesis of human obesity, insulin resistance and related metabolic and endocrine disorders.

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Stephen O'Rahilly's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Congenital leptin deficiency is associated with severe early-onset obesity in humans (1997) (2978)
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. (1999) (1870)
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (2009) (1735)
The GPR54 Gene as a Regulator of Puberty (2003) (1527)
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. (2003) (1511)
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. (2002) (1459)
The Obesity-Associated FTO Gene Encodes a 2-Oxoglutarate-Dependent Nucleic Acid Demethylase (2007) (1375)
Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension (1999) (1351)
Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008) (1307)
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
The GPR54 gene as a regulator of puberty. (2004) (1094)
A frameshift mutation in MC4R associated with dominantly inherited human obesity (1998) (1078)
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene (1997) (1073)
International Union of Pharmacology. LXI. Peroxisome Proliferator-Activated Receptors (2006) (946)
The genetic architecture of type 2 diabetes (2016) (927)
The UK10K project identifies rare variants in health and disease (2015) (926)
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction (2009) (816)
Resistin / Fizz3 expression in relation to obesity and peroxisome proliferator-activated receptor-gamma action in humans. (2001) (782)
Genetics of body-weight regulation (2000) (780)
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. (2000) (759)
Mapping cis- and trans-regulatory effects across multiple tissues in twins (2012) (754)
The perils of portliness: causes and consequences of visceral adiposity. (2000) (749)
PPARγ and human metabolic disease (2006) (701)
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy (2000) (689)
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. (2007) (644)
Leptin Regulates Striatal Regions and Human Eating Behavior (2007) (571)
The Hormonal Control of Food Intake (2007) (571)
Genetics of obesity in humans. (2006) (568)
A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2 (2004) (555)
Impaired pulsatile secretion of insulin in relatives of patients with non-insulin-dependent diabetes. (1988) (547)
Induction of Adipocyte Complement-Related Protein of 30 Kilodaltons by PPARγ Agonists: A Potential Mechanism of Insulin Sensitization. (2002) (546)
Large, rare chromosomal deletions associated with severe early-onset obesity (2010) (533)
Obesity associated genetic variation in FTO is associated with diminished satiety. (2008) (516)
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay (2004) (515)
Activators of peroxisome proliferator-activated receptor gamma have depot-specific effects on human preadipocyte differentiation. (1997) (515)
The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study (2011) (460)
Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene (2006) (445)
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. (2003) (438)
Influence of Leptin on Arterial Distensibility: A Novel Link Between Obesity and Cardiovascular Disease? (2002) (417)
Monogenic obesity in humans. (2005) (416)
Regulation of adipose cell number in man. (1997) (410)
PPAR gamma and human metabolic disease. (2006) (408)
Further evidence for an association between non–insulin‐dependent diabetes mellitus and chronic hepatitis C virus infection (1999) (405)
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. (2003) (393)
Depot- and sex-specific differences in human leptin mRNA expression: implications for the control of regional fat distribution. (1997) (390)
Linkage of type 2 diabetes to the glucokinase gene (1992) (388)
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance (2016) (386)
Metabolism: Partial leptin deficiency and human adiposity (2001) (383)
The central melanocortin system directly controls peripheral lipid metabolism. (2007) (381)
A genome-wide association meta-analysis identifies new childhood obesity loci (2012) (375)
Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36). (2004) (373)
Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action (2003) (369)
Depot-related gene expression in human subcutaneous and omental adipocytes. (1998) (360)
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (2008) (357)
Evidence for Gene-Nutrient Interaction at the PPARγ Locus (2001) (357)
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. (2009) (354)
Human genetics illuminates the paths to metabolic disease (2009) (347)
Leptin: a pivotal regulator of human energy homeostasis. (2009) (341)
Depot- and Sex-Specific Differences in Human Leptin mRNA Expression: Implications for the Control of Regional Fat Distribution (1997) (324)
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. (2001) (323)
Activation of Peroxisome Proliferator–Activated Receptor (PPAR)δ Promotes Reversal of Multiple Metabolic Abnormalities, Reduces Oxidative Stress, and Increases Fatty Acid Oxidation in Moderately Obese Men (2008) (317)
Differential Lipid Partitioning Between Adipocytes and Tissue Macrophages Modulates Macrophage Lipotoxicity and M2/M1 Polarization in Obese Mice (2011) (315)
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. (2003) (313)
Trophoblast organoids as a model for maternal-fetal interactions during human placentation (2018) (313)
Adipogenesis at a glance (2011) (313)
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile (2011) (313)
Pharmacological Inhibition of Glucosylceramide Synthase Enhances Insulin Sensitivity (2007) (306)
Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization. (2002) (299)
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. (2009) (297)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) (296)
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity (2013) (296)
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. (2002) (287)
Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis. (2016) (285)
Correlation of the leptin:adiponectin ratio with measures of insulin resistance in non-diabetic individuals (2009) (284)
Leptin Mediates the Increase in Blood Pressure Associated with Obesity (2014) (283)
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. (2005) (275)
Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis (2016) (274)
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. (2004) (273)
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. (2009) (273)
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA (2012) (273)
Depletion of stromal cells expressing fibroblast activation protein-α from skeletal muscle and bone marrow results in cachexia and anemia (2013) (272)
Genetic Factors in Type 2 Diabetes: The End of the Beginning? (2005) (271)
Serotonin Activates the Hypothalamic–Pituitary–Adrenal Axis via Serotonin 2C Receptor Stimulation (2007) (263)
Modulation of blood pressure by central melanocortinergic pathways. (2009) (261)
Serotonin 5-HT2C receptor agonist promotes hypophagia via downstream activation of melanocortin 4 receptors. (2008) (259)
Mutations in ligands and receptors of the leptin–melanocortin pathway that lead to obesity (2008) (255)
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy (2002) (254)
Early nutrition and leptin concentrations in later life. (2002) (252)
Set points, settling points and some alternative models: theoretical options to understand how genes and environments combine to regulate body adiposity (2011) (250)
Perilipin deficiency and autosomal dominant partial lipodystrophy. (2011) (250)
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC (2009) (250)
Acute effects of PYY3-36 on food intake and hypothalamic neuropeptide expression in the mouse. (2003) (249)
BETA-CELL DYSFUNCTION, RATHER THAN INSULIN INSENSITIVITY, IS THE PRIMARY DEFECT IN FAMILIAL TYPE 2 DIABETES (1986) (248)
A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2 (2009) (239)
Minireview: human obesity-lessons from monogenic disorders. (2003) (236)
Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees (2008) (235)
GDF15 mediates the effects of metformin on body weight and energy balance (2019) (233)
Proopiomelanocortin and energy balance: insights from human and murine genetics. (2004) (231)
Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity (2013) (227)
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. (2003) (224)
Tumor Necrosis Factor-α Induces Apoptosis of Human Adipose Cells (1997) (222)
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance. (2006) (222)
Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. (1995) (221)
Associations between body-mass index and COVID-19 severity in 6·9 million people in England: a prospective, community-based, cohort study (2021) (220)
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. (2003) (219)
Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo. (2003) (218)
GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans (2019) (214)
Heterozygosity for a POMC-Null Mutation and Increased Obesity Risk in Humans (2006) (208)
Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects (2004) (204)
Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers sterol regulatory element-binding protein-1c and LXRalpha. (2002) (203)
The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation. (2003) (203)
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. (2007) (202)
20 years of leptin: human disorders of leptin action. (2014) (197)
The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation (2008) (192)
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. (2000) (191)
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. (2001) (191)
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms (2016) (189)
Human Obesity: A Heritable Neurobehavioral Disorder That Is Highly Sensitive to Environmental Conditions (2008) (188)
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. (1999) (187)
TCF7L2 Polymorphisms Modulate Proinsulin Levels and β-Cell Function in a British Europid Population (2007) (187)
Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance (2006) (187)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility (2015) (185)
Lipodystrophy: metabolic insights from a rare disorder. (2010) (178)
The link between nutritional status and insulin sensitivity is dependent on the adipocyte-specific peroxisome proliferator-activated receptor-gamma2 isoform. (2005) (172)
Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity. (2005) (168)
Prospective functional classification of all possible missense variants in PPARG (2016) (167)
Hypothalamic-Specific Manipulation of Fto, the Ortholog of the Human Obesity Gene FTO, Affects Food Intake in Rats (2010) (166)
A Genome-Wide Association Study Reveals Variants in ARL15 that Influence Adiponectin Levels (2009) (164)
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency (2017) (161)
C/EBP transcription factors regulate SREBP1c gene expression during adipogenesis. (2009) (160)
KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation (2013) (158)
Evidence for gene-nutrient interaction at the PPARgamma locus. (2001) (156)
Human obesity and type 2 diabetes are associated with alterations in SREBP1 isoform expression that are reproduced ex vivo by tumor necrosis factor-alpha. (2002) (155)
Tamoxifen-Induced Anorexia Is Associated With Fatty Acid Synthase Inhibition in the Ventromedial Nucleus of the Hypothalamus and Accumulation of Malonyl-CoA (2006) (155)
The Wnt antagonist Dickkopf-1 and its receptors are coordinately regulated during early human adipogenesis (2006) (151)
Role for the obesity-related FTO gene in the cellular sensing of amino acids (2013) (149)
Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity (2016) (149)
The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals (2007) (145)
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy (2013) (144)
Human SH2B1 mutations are associated with maladaptive behaviors and obesity. (2012) (141)
Regulation of tumour necrosis factor-alpha release from human adipose tissue in vitro. (1999) (138)
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. (2011) (137)
Thiazolidinedione Exposure Increases the Expression of Uncoupling Protein 1 in Cultured Human Preadipocytes (1998) (136)
Tumor necrosis factor-alpha induces apoptosis of human adipose cells. (1997) (136)
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. (2009) (136)
Genetic syndromes of severe insulin resistance. (2018) (135)
Differential methylation of the TRPA1 promoter in pain sensitivity (2014) (133)
Adult Onset Global Loss of the Fto Gene Alters Body Composition and Metabolism in the Mouse (2013) (133)
Elevated plasma adiponectin in humans with genetically defective insulin receptors. (2006) (132)
High Prevalence of Hepatitis C Infection in Afro‐Caribbean Patients with Type 2 Diabetes and Abnormal Liver Function Tests (1995) (131)
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (2016) (131)
Genetic syndromes of severe insulin resistance. (2011) (130)
Rare variants in single-minded 1 (SIM1) are associated with severe obesity. (2013) (130)
WNT10B mutations in human obesity (2006) (129)
Recent advances in the genetics of severe childhood obesity (2000) (128)
A Quantitative Trait Locus on Chromosome 18q for Physical Activity and Dietary Intake in Hispanic Children (2006) (126)
Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome. (1996) (124)
Monogenic human obesity syndromes. (2004) (122)
Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake, and proximal insulin signaling. (2006) (121)
The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models. (2000) (119)
Genetic factors in human obesity (2007) (119)
Genetics of obesity (2006) (119)
Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors (2018) (116)
Detection of Mutations in Insulin-Receptor Gene in NIDDM Patients by Analysis of Single-Stranded Conformation Polymorphisms (1991) (116)
Heterogeneity of hypothalamic pro-opiomelanocortin-expressing neurons revealed by single-cell RNA sequencing (2017) (113)
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. (2005) (113)
Molecular Scanning of the Insulin Receptor Gene in Syndromes of Insulin Resistance (1994) (112)
Science, medicine, and the future Non-insulin dependent diabetes mellitus: the gathering storm (1997) (112)
Arachidonic Acid Stimulates Glucose Uptake in 3T3-L1 Adipocytes by Increasing GLUT1 and GLUT4 Levels at the Plasma Membrane (2001) (111)
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease (2014) (111)
Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes (2006) (111)
Mutant insulin receptors in syndromes of insulin resistance (1992) (111)
Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals (2009) (110)
Uncoupling protein 3 is reduced in skeletal muscle of NIDDM patients. (1998) (110)
Obesity therapy: altering the energy intake-and-expenditure balance sheet (2002) (110)
A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs (2016) (109)
Novel Leptin-Regulated Genes Revealed by Transcriptional Profiling of the Hypothalamic Paraventricular Nucleus (2008) (106)
Insulin-like peptide 5 is an orexigenic gastrointestinal hormone (2014) (103)
CNS Leptin Action Modulates Immune Response and Survival in Sepsis (2010) (99)
Effects of the mu-opioid receptor antagonist GSK1521498 on hedonic and consummatory eating behaviour: a proof of mechanism study in binge-eating obese subjects (2012) (98)
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. (2001) (96)
Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. (2004) (96)
Paradoxical Elevation of High–Molecular Weight Adiponectin in Acquired Extreme Insulin Resistance Due to Insulin Receptor Antibodies (2007) (96)
Digenic inheritance of severe insulin resistance in a human pedigree (2002) (96)
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia (2009) (95)
Transcript and metabolite analysis of the effects of tamoxifen in rat liver reveals inhibition of fatty acid synthesis in the presence of hepatic steatosis (2005) (95)
New advances in the genetics of early onset obesity (2005) (95)
Human obesity as a heritable disorder of the central control of energy balance (2008) (94)
Regional differences in the response of human pre-adipocytes to PPARγ and RXRα agonists (2002) (93)
ETO/MTG8 Is an Inhibitor of C/EBPβ Activity and a Regulator of Early Adipogenesis (2004) (93)
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders. (2016) (93)
Two Naturally Occurring Insulin Receptor Tyrosine Kinase Domain Mutants Provide Evidence That Phosphoinositide 3-Kinase Activation Alone Is Not Sufficient for the Mediation of Insulin’s Metabolic and Mitogenic Effects* (1997) (93)
The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin. (2004) (93)
Mitochondrial dysfunction in patients with primary congenital insulin resistance. (2011) (92)
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease (2016) (92)
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism (1993) (92)
Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction (2008) (90)
Psychiatric co-morbidities in patients attending specialist obesity services in the UK. (2006) (90)
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)* (2011) (88)
Insulin-mediated pseudoacromegaly: clinical and biochemical characterization of a syndrome of selective insulin resistance. (1993) (87)
Leptin regulates peripheral lipid metabolism primarily through central effects on food intake. (2008) (87)
Does peroxisome proliferator-activated receptor gamma genotype (Pro12ala) modify the association of physical activity and dietary fat with fasting insulin level? (2004) (86)
Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity (2007) (86)
Fat: an evolving issue (2012) (85)
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. (2014) (84)
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. (2009) (82)
Leptin Deficiency Unmasks the Deleterious Effects of Impaired Peroxisome Proliferator–Activated Receptor γ Function (P465L PPARγ) in Mice (2006) (82)
Obesity and FTO: Changing Focus at a Complex Locus. (2014) (82)
Type II diabetes of early onset: a distinct clinical and genetic syndrome? (1987) (81)
A comparative study of the central effects of specific proopiomelancortin (POMC)-derived melanocortin peptides on food intake and body weight in pomc null mice. (2006) (81)
Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis (2015) (80)
Complement abnormalities in acquired lipodystrophy revisited. (2009) (79)
The transcription factors Egr1 and Egr2 have opposing influences on adipocyte differentiation (2009) (79)
Insulin resistance as the major cause of impaired glucose tolerance: a self-fulfilling prophesy? (1994) (77)
The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1. (2013) (77)
The Peroxisome Proliferator-activated Receptor-γ Regulates Murine Pyruvate Carboxylase Gene Expression in Vivo and in Vitro* (2005) (75)
GDF15: A Hormone Conveying Somatic Distress to the Brain (2020) (74)
Proopiomelanocortin-deficient mice are hypersensitive to the adverse metabolic effects of glucocorticoids. (2005) (74)
Distinct Modulatory Effects of Satiety and Sibutramine on Brain Responses to Food Images in Humans: A Double Dissociation across Hypothalamus, Amygdala, and Ventral Striatum (2010) (73)
Molecular Scanning of Insulin-Responsive Glucose Transporter (GLUT4) Gene in NIDDM Subjects (1991) (73)
GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity (2018) (72)
Mapping the proteo-genomic convergence of human diseases (2021) (72)
The Effects of Neurokinin B upon Gonadotrophin Release in Male Rodents (2010) (71)
Genetic architecture of human thinness compared to severe obesity (2019) (70)
Binge eating as a phenotype of melanocortin 4 receptor gene mutations. (2003) (69)
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 (2001) (69)
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
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* (2002) (68)
Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome (2018) (68)
When Two Pandemics Meet: Why Is Obesity Associated with Increased COVID-19 Mortality? (2020) (67)
Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (66)
Decreased brown adipocyte recruitment and thermogenic capacity in mice with impaired peroxisome proliferator-activated receptor (P465L PPARgamma) function. (2006) (66)
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE (2007) (65)
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance (2019) (65)
Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. (1997) (65)
Analysis of Genetic Variation in Akt2/PKB-β in Severe Insulin Resistance, Lipodystrophy, Type 2 Diabetes, and Related Metabolic Phenotypes (2007) (64)
Digenic inheritance of severe insulin resistance in a human pedigree (2002) (64)
The role of phosphoinositide 3-kinase in insulin signalling. (1996) (64)
PPARγ and Glucose Homeostasis (2005) (63)
Melanin-concentrating hormone receptor mutations and human obesity: functional analysis. (2004) (62)
Comment on "A Common Genetic Variant Is Associated with Adult and Childhood Obesity" (2007) (62)
Differences in Signaling Properties of the Cytoplasmic Domains of the Insulin Receptor and Insulin-like Growth Factor Receptor in 3T3-L1 Adipocytes* (1999) (62)
Role of the POZ Zinc Finger Transcription Factor FBI-1 in Human and Murine Adipogenesis* (2004) (60)
Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma. (2004) (59)
The CART gene and human obesity: mutational analysis and population genetics. (2000) (58)
Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes. (2004) (58)
Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice. (2006) (58)
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression (2017) (57)
Leptin: a novel therapeutic role in lipodystrophy. (2002) (56)
Truncated Human Leptin (Δ133) Associated with Extreme Obesity Undergoes Proteasomal Degradation after Defective Intracellular Transport. (1999) (56)
Resistin: a new link between obesity and insulin resistance? (2001) (56)
Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. (2003) (56)
Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. (2002) (55)
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency☆ (2013) (55)
Tumor necrosis factor is delivered to mitochondria where a tumor necrosis factor-binding protein is localized. (1998) (55)
Type 2 (non-insulin-dependent) diabetes mellitus new genetics for old nightmares (1988) (55)
Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm (2014) (55)
ob gene mutations and human obesity (1998) (54)
Evaluating the Role of LPIN1 Variation in Insulin Resistance, Body Weight, and Human Lipodystrophy in U.K. Populations (2008) (53)
Treatment with recombinant human insulin-like growth factor (rhIGF)-I/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance. (2010) (52)
Contraction inhibits insulin-stimulated insulin receptor substrate-1/2-associated phosphoinositide 3-kinase activity, but not protein kinase B activation or glucose uptake, in rat muscle. (2000) (52)
Impaired activation of phosphoinositide 3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudoacromegaly. A disorder characterized by selective postreceptor insulin resistance. (1998) (52)
Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes (2011) (51)
Two Naturally Occurring Mutant Insulin Receptors Phosphorylate Insulin Receptor Substrate-1 (IRS-1) but Fail to Mediate the Biological Effects of Insulin (1996) (50)
Does physical activity energy expenditure explain the between-individual variation in plasma leptin concentrations after adjusting for differences in body composition? (2003) (50)
Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway. (2008) (50)
Human physiology: Life without leptin (1998) (50)
The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion (2017) (50)
Chromosome 4q Locus Associated With Insulin Resistance in Pima Indians: Studies in Three European NIDDM Populations (1994) (50)
SEQUENTIAL REGULATION OF DGAT2 EXPRESSION BY C/EBPβ AND C/EBPα DURING ADIPOGENESIS (2007) (50)
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference (2018) (49)
Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy. (2005) (49)
Association of Genetically Enhanced Lipoprotein Lipase–Mediated Lipolysis and Low-Density Lipoprotein Cholesterol–Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes (2018) (49)
The effect of the Gly16Arg polymorphism of the beta(2)-adrenergic receptor gene on plasma free fatty acid levels is modulated by physical activity. (2001) (49)
Hypoglycemia due to an Insulin Binding Antibody in a Patient with an IgA-κ Myeloma (2007) (49)
Differential effects of α-, β- and γ2-melanocyte-stimulating hormones on hypothalamic neuronal activation and feeding in the fasted rat (2001) (49)
Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy (2014) (48)
Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes (2005) (48)
Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits. (2004) (47)
A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice (2008) (46)
Mutant insulin receptors in syndromes of insulin resistance. (1996) (46)
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations (2016) (46)
A dominant negative human peroxisome proliferator-activated receptor (PPAR){alpha} is a constitutive transcriptional corepressor and inhibits signaling through all PPAR isoforms. (2005) (46)
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. (2003) (46)
Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation (2017) (46)
Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference. (2007) (45)
Sex hormone-binding globulin and risk of type 2 diabetes. (2009) (43)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
Mechanistic insights into insulin resistance in the genetic era (2011) (43)
Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms (2013) (43)
Identification of the Global Transcriptomic Response of the Hypothalamic Arcuate Nucleus to Fasting and Leptin (2010) (43)
Studies of the SIM1 gene in relation to human obesity and obesity-related traits (2007) (43)
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
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 (2007) (42)
Insulin resistance : insulin action and its disturbances in disease (2005) (42)
Regional differences in the response of human pre-adipocytes to PPARgamma and RXRalpha agonists. (2002) (42)
Class II phosphoinositide 3-kinase is activated by insulin but not by contraction in skeletal muscle. (2001) (41)
Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels Published, JLR Papers in Press, January 25, 2006. (2006) (41)
Investigating the involvement of the ATF6α pathway of the unfolded protein response in adipogenesis (2011) (40)
Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. (2008) (40)
Human obesity and insulin resistance: lessons from experiments of nature. (2007) (40)
Leptin: defining its role in humans by the clinical study of genetic disorders. (2002) (40)
Metabolism: Controlling the glucose factory (2001) (40)
Divergent effects of central melanocortin signalling on fat and sucrose preference in humans (2016) (40)
Molecular scanning of the insulin receptor substrate 1 gene in subjects with severe insulin resistance: detection and functional analysis of a naturally occurring mutation in a YMXM motif. (1998) (39)
Differential Signaling to Glycogen Synthesis by the Intracellular Domain of the Insulin versus the Insulin-like Growth Factor-1 Receptor (1997) (38)
Natural variants of human p85α phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity (2000) (38)
PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max. (2003) (38)
GDF 15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans (2019) (38)
Melanocortin receptors weigh in (2004) (38)
Lamin expression in human adipose cells in relation to anatomical site and differentiation state. (2002) (37)
Loss of function mutations in the melanocortin 4 receptor in a UK birth cohort (2021) (37)
Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians (2004) (36)
Association Between Physical Activity and Blood Pressure Is Modified by Variants in the G-Protein Coupled Receptor 10 (2004) (36)
The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis involving 13,949 individuals (2008) (35)
Severe insulin resistance due to anti‐insulin antibodies: response to plasma exchange and immunosuppressive therapy (2009) (35)
Sequential regulation of diacylglycerol acyltransferase 2 expression by CAAT/enhancer-binding protein beta (C/EBPbeta) and C/EBPalpha during adipogenesis. (2007) (34)
The peroxisome proliferator-activated receptor-gamma regulates murine pyruvate carboxylase gene expression in vivo and in vitro. (2005) (34)
Hypoglycemia due to an insulin binding antibody in a patient with an IgA-kappa myeloma. (2007) (33)
Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol (2016) (33)
Differential Effects of Adiposity on Peroxisomal Proliferator-Activated Receptor γ1 and γ2 Messenger Ribonucleic Acid Expression in Human Adipocytes (2002) (33)
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. (2006) (32)
A clinical approach to severe insulin resistance. (2007) (32)
Inhibition of mitochondrial function by metformin increases glucose uptake, glycolysis and GDF-15 release from intestinal cells (2021) (32)
Excessive Secretion of Insulin Precursors Characterizes and Predicts Gestational Diabetes (1995) (32)
Depot-related and thiazolidinedione-responsive expression of uncoupling protein 2 (UCP2) in human adipocytes (2000) (31)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
The NR4A family of orphan nuclear receptors are not required for adipogenesis (2008) (31)
Associations of vomiting and antiemetic use in pregnancy with levels of circulating GDF15 early in the second trimester: A nested case-control study (2018) (31)
Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity (2009) (31)
Development, factor structure and application of the Dog Obesity Risk and Appetite (DORA) questionnaire (2015) (31)
Application of structural model of glucose-insulin relations to assess beta-cell function and insulin sensitivity. (1990) (31)
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations (2018) (31)
GDF15-From Biomarker to Allostatic Hormone. (2017) (30)
Lamin A/C Polymorphisms, Type 2 Diabetes, and the Metabolic Syndrome (2007) (30)
SnapShot: The Hormonal Control of Food Intake (2008) (29)
Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice (2009) (29)
Early‐onset Type 2 Diabetes vs Maturity‐onset Diabetes of Youth: Evidence for the Existence of Two Discrete Diabetic Syndromes (1988) (29)
Insights into obesity and insulin resistance from the study of extreme human phenotypes. (2002) (29)
Significant Linkage of BMI to Chromosome 10p in the U.K. Population and Evaluation of GAD2 as a Positional Candidate (2006) (29)
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 (2004) (28)
PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge (2007) (28)
Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1 (2014) (28)
The changing classification and diagnosis of diabetes (1998) (27)
Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes (2015) (27)
Metabolic insights from extreme human insulin resistance phenotypes. (2012) (27)
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty (2017) (27)
human PPARg associated with severe insulin resistance, diabetes mellitus and hypertension (1999) (27)
Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes (2006) (27)
Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance. (2005) (27)
FTO is necessary for the induction of leptin resistance by high-fat feeding (2015) (27)
Loss of Agouti-Related Peptide Does Not Significantly Impact the Phenotype of Murine POMC Deficiency (2011) (26)
Successful treatment of Type B insulin resistance in a patient with otherwise quiescent systemic lupus erythematosus (2005) (26)
Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response (2021) (26)
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase (2017) (25)
The α‐isoform of class II phosphoinositide 3‐kinase is more effectively activated by insulin receptors than IGF receptors, and activation requires receptor NPEY motifs (1999) (25)
Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations (2007) (25)
Mitochondrial Oxidative Phosphorylation Is Impaired in Patients with Congenital Lipodystrophy (2012) (25)
Fatty acid metabolism in patients with PPARgamma mutations. (2008) (25)
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. (2003) (25)
Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome (1995) (25)
Physical activity energy expenditure may mediate the relationship between plasma leptin levels and worsening insulin resistance independently of adiposity. (2007) (25)
Is leptin an important physiological regulator of CRP? (2007) (24)
Trim 28 Haploinsufficiency Triggers Bistable Epigenetic Obesity Graphical (2016) (24)
Severe Hypo-α-Lipoproteinemia During Treatment With Rosiglitazone (2004) (24)
Activation of the hypothalamic–pituitary–adrenal axis by exogenous and endogenous GDF15 (2021) (24)
Comparison of anti-apoptotic signalling by the insulin receptor and IGF-I receptor in preadipocytes and adipocytes. (2001) (24)
Hypercalcaemia associated with granulomatous lymphadenitis and elevated 1,25 dihydroxyvitamin D concentration in a dog. (2006) (24)
Orexin Expression is Regulated by α‐Melanocyte‐Stimulating Hormone (2007) (23)
Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate. (2012) (23)
Differential effects of alpha-, beta- and gamma(2)-melanocyte-stimulating hormones on hypothalamic neuronal activation and feeding in the fasted rat. (2001) (23)
Uncoupling protein 2: Adiposity angel and diabetes devil? (2001) (23)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
Pathogenesis of NIDDM--a disease of deficient insulin secretion. (1988) (22)
Chromosome 11 allele loss in sporadic insulinoma. (1990) (22)
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription (2020) (22)
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 (1998) (22)
Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in proopiomelanocortin null mice treated with corticosterone (2007) (22)
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulindependent diabetes (1992) (22)
Differential effects of adiposity on peroxisomal proliferator-activated receptor gamma1 and gamma2 messenger ribonucleic acid expression in human adipocytes. (2002) (22)
Proopiomelanocortin products and human early-onset obesity. (1999) (21)
Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues (2014) (21)
Adipose depot-specific expression of cIAP2 in human preadipocytes and modulation of expression by serum factors and TNFα (2001) (21)
Shedding pounds after going under the knife: Guts over glory—why diets fail (2012) (21)
Leptin therapy in lipodystrophy (2010) (20)
Severe insulin resistance, diabetes mellitus, hypertriglyceridemia, and pseudoacromegaly. (1996) (20)
Syndromes of Severe Insulin Resistance and/or Lipodystrophy (2010) (20)
Steroid hormones and adipose tissue (1996) (20)
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians. (2000) (20)
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. (1998) (19)
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1 (2017) (19)
Availability of Type II Diabetic Families for Detection of Diabetes Susceptibility Genes (1993) (19)
Molecular mechanisms of inherited insulin resistance. (1997) (18)
Peptide YY3-36 and satiety: clarity or confusion? (2004) (18)
Genetic variants and common diseases--better late than never. (2006) (17)
Insulin receptor and insulin-responsive glucose transporter (GLUT 4) mutations and polymorphisms in a welsh type 2 (non-insulin-dependent) diabetic population (1992) (17)
Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity. (2004) (17)
FTO Obesity Variant and Adipocyte Browning in Humans. (2016) (17)
The energy balance model of obesity: beyond calories in, calories out. (2022) (16)
Genetic variants of insulin receptor substrate‐1 (IRS‐1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS‐1 (2002) (16)
Expression of the putative inhibitor of the insulin receptor tyrosine kinase PC‐1 in dermal fibroblasts from patients with syndromes of severe insulin resistance (1997) (16)
Efficacy of Metreleptin for Weight Loss in Overweight and Obese Adults with Low Leptin Levels (2018) (16)
Human Obesity — Lessons from Monogenic Disorders (2003) (16)
PARL Leu262Val is not associated with fasting insulin levels in UK populations (2006) (16)
Tumour necrosis factor induced autophagy and mitochondrial morphological abnormalities are mediated by TNFR-I and/or TNFR-II and do not invariably lead to cell death. (1998) (16)
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 (2018) (16)
Prohormone Convertase 1 in Obesity, Gestational Diabetes Mellitus, and NIDDM: No Evidence for a Major Susceptibility Role (1998) (16)
Truncation of POC1A associated with short stature and extreme insulin resistance. (2015) (16)
PGC-1 Genotype Modifies the Association of Volitional Energy Expenditure with V̇O 2 max (2003) (16)
Effect of metformin on glucose disposal and hyperinsulinaemia in a 14-year-old boy with acanthosis nigricans. (1997) (15)
Rapid Publication Resistin / Fizz3 Expression in Relation to Obesity and Peroxisome Proliferator–Activated Receptor- Action in Humans (2001) (15)
Severe hypo-alpha-lipoproteinemia during treatment with rosiglitazone. (2004) (14)
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient (2011) (14)
Relationship between Changes in Plasma Adiponectin Concentration and Insulin Sensitivity after Niacin Therapy (2012) (14)
Plasma proinsulin in first-degree relatives of type 2 diabetic subjects. (1990) (14)
Leptin-Mediated Changes in the Human Metabolome (2020) (14)
European paediatric non-alcoholic fatty liver disease registry (EU-PNAFLD): Design and rationale. (2018) (13)
Heterogeneity of glucagonomas due to differential processing of proglucagon-derived peptides (2015) (13)
Triple H syndrome: a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis. (2000) (13)
Uncovering the biology of FTO. (2012) (13)
Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor. (2004) (13)
Harveian Oration 2016: Some observations on the causes and consequences of obesity. (2016) (13)
AMPK is required for exercise to enhance insulin sensitivity in skeletal muscles (2017) (13)
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes. (1992) (13)
Metabolic Precision Medicines: Curing POMC Deficiency. (2016) (13)
Non-linkage of the islet amyloid polypeptide gene with Type 2 (non-insulin-dependent) diabetes mellitus (1991) (13)
Naturally occurring amino acid substitutions at Arg1174 in the human insulin receptor result in differential effects on receptor biosynthesis and hybrid formation, leading to discordant clinical phenotypes. (2000) (12)
Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? (2017) (12)
GDF15 Is Elevated in Conditions of Glucocorticoid Deficiency and Is Modulated by Glucocorticoid Replacement (2019) (12)
Sequential Regulation of Diacylglycerol Acyltransferase 2 Expression by CAAT/Enhancer-binding Protein β (C/EBPβ) and C/EBPα during Adipogenesis* (2007) (11)
Knockdown of Diacylglycerol Kinase Delta Inhibits Adipocyte Differentiation and Alters Lipid Synthesis (2012) (11)
Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia (2017) (11)
Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects (1997) (11)
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity (2020) (11)
Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes. (2007) (11)
35th Annual meeting of the European Association for the Study of Diabetes. Brussels, Belgium, 28 September-2 October, 1999. Abstracts. (1999) (11)
Hypoketotic Hypofattyacidaemic Hypoinsulinaemic Hypoglycaemia in a Child with Hemihypertrophy? A New Syndrome (2004) (11)
Maturity-onset diabetes in young black Americans. (1987) (11)
Modernising Medical Careers, Medical Training Application Service, and the Postgraduate Medical Education and Training Board: time for the emperors to don their clothes (2007) (10)
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety (2017) (10)
Circulating levels of GDF15 in patients with myalgic encephalomyelitis/chronic fatigue syndrome (2019) (10)
Adipogenesis at a glance (2011) (10)
Hypomorphism in human NSMCE 2 linked to primordial dwarfism and insulin resistance (2014) (10)
Functional characterisation of obesity-associated variants involving the alpha and beta isoforms of human SH 2 B 1 (2014) (10)
Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young (1988) (9)
Genetic Insights in Paediatric Endocrinology and Metabolism (1999) (9)
The Imprinted Gene Peg3 Is Not Essential for Tumor Necrosis Factor α Signaling (2000) (9)
Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance (2021) (9)
Diabetes in midlife: Planting genetic time bombs (1997) (9)
20 years of leptin: what we know and what the future holds. (2014) (9)
Genetics of Obesity Syndromes (2008) (8)
Multiple Molecular Mechanisms of Insulin Receptor Dysfunction in a Patient With Donohue Syndrome (1998) (8)
Secretion of antidiuretic hormone in hyponatraemia: not always "inappropriate". (1985) (8)
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure (2020) (8)
Chapter 22 – Syndromes of Severe Insulin Resistance and/or Lipodystrophy (2016) (7)
Does type II diabetes arise from a major gene defect producing insulin resistance or beta cell dysfunction (1989) (7)
Damaging missense variants in IGF1R implicate a role for IGF-1 resistance in the etiology of type 2 diabetes (2022) (7)
Toward improved glycemic control in diabetes. What's on the horizon? (1995) (7)
CIGMA as a tool in the study of NIDDM. (1988) (7)
Homozygous mutation in the insulin receptor (1996) (7)
The metabolic syndrome: all in the mind? (1999) (6)
Obesity therapeutics: The end of the beginning. (2021) (6)
Fatty Acid Metabolism in Patients with PPAR Mutations (2008) (6)
Epidemiological evidence against a role for C-reactive protein causing leptin resistance. (2012) (6)
Physiology of the Aging Vasculature The Gly 482 Ser genotype at the PPARGC 1 A gene and elevated blood pressure : a meta-analysis involving 13 , 949 individuals (2008) (6)
BETA-CELL FUNCTION IN TYPE II DIABETES (1986) (6)
Edinburgh Research Explorer Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance (2018) (5)
Severe Hypoinsulinaemic Hypoglycaemia in a Premature Infant Associated with Poor Weight Gain and Reduced Adipose Tissue (2007) (5)
The coding sequence of POMC and obesity and appetite in Labrador retriever dogs (2014) (5)
An audit of a comprehensive screening programme for diabetes in pregnancy (1998) (5)
An RFLP associated with insulinoma amyloid polypeptide locus (IAPP). (1989) (5)
Characterisation of proguanylin expressing cells in the intestine – evidence for constitutive luminal secretion (2019) (5)
The McKittrick–Wheelock syndrome: a rare cause of curable diabetes (2016) (5)
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution (2021) (5)
Murine neuronatin deficiency is associated with a hypervariable food intake and bimodal obesity (2021) (4)
Uncoupling proteins: the unravelling of obesity? (1998) (4)
Human obesity and insulin resistance: Lessons from human genetics (2011) (4)
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
Dominant Negative Mutations in Human PPARγ–Novel Insights into Glucose Homeostasis and Blood Pressure Regulation in Man (2000) (4)
Phenotypic characterization of Adig null mice suggests roles for adipogenin in the regulation of fat mass accrual and leptin secretion (2021) (4)
GDF15 Concentrations in Maternal Serum Associated with Vomiting in Pregnancy: the Cambridge Baby Growth Study (2017) (4)
Medical training in the UK: sleepwalking to disaster (2007) (4)
A new Sst 1 RFLP associated with human insulin receptor locus. (1988) (4)
Analysis of the HepG2/erythrocyte glucose transporter locus in a family with Type 2 (non-insulin-dependent) diabetes and obesity (1989) (4)
Gestational Diabetes Mellitus Is Associated With an Increase in the Total Concentration of Amylin Molecules (1998) (4)
Finding genes that control body weight (2021) (4)
A Prevalent Variant in PPP 1 R 3 A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice (2008) (4)
New classification is based on pathogenesis, not insulin dependence (2014) (4)
Is the defect in pro‐hormone processing in Type 2 diabetes mellitus restricted to the β cell? (2001) (4)
Melanocortin receptors and energy homeostasis (2005) (3)
The wasting hormone GDF15 frees up fat to fight infection (2019) (3)
Genetic Obesity Syndromes (2019) (3)
Linkage of maturity-onset diabetes of the young to the glucokinase gene--evidence of genetic heterogeneity. (1993) (3)
No evidence for excess allele-sharing on chromosome 2q (region of NIDDM1) in a large sibship collection (1997) (3)
Colchicine—an old dog with new tricks (2021) (3)
Analysis of the pro-opiomelanocortin gene in non-insulin dependent diabetic families. (1989) (3)
Tumour necrosis factor is trafficked to a mitochondrial tumour necrosis factor binding protein. (1998) (3)
35th Annual Meeting of the European Association for the Study of Diabetes (2016) (3)
Cell Metabolism: Why, and why now? (2005) (3)
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. (2010) (3)
A comparative study of the central effects of specific POMC- derived melanocortin peptides on food intake and body weight in Pomc null mice (2008) (3)
Causal analyses, statistical efficiency and phenotypic precision through Recall-by-Genotype study design (2017) (3)
Beta cell dysfunction in non-insulin-dependent diabetes mellitus. (1994) (3)
Metabolic abnormalities in children of non-insulin dependent diabetics (1986) (3)
BETA BLOCKERS, BLOOD SUGARS, AND THIAZIDES (1985) (3)
Erratum: Tumor necrosis factor-α induces apoptosis of human adipose cells (Diabetes) (1997) 46 (1939-1944)) (1998) (2)
Correction: A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice (2008) (2)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (2)
Chromosome 4q locus associated with insulin resistence in Pima Indians: Studies in three European Non-insulin-dependent diabetic populations (1994) (2)
Thiazolidinediones promote the differentiation of human brown preadipocytes in vitro. (1997) (2)
Endogenous GDF15 and FGF21 additively alleviate hepatic steatosis and insulin resistance in obese mice (2022) (2)
Genetic Evaluation of Obese Patients (2008) (2)
Reference ranges for GDF-15, and risk factors associated with GDF-15, in a large general population cohort (2022) (2)
Erratum: Rare variants in single-minded 1 (SIM1) are associated with severe obesity (Journal of Clinical Investigation (2013) 123:7 (3042-3050) DOI: 10.1172/JCI68016) (2013) (2)
Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk (2018) (2)
An Appreciation of Robert Turner (2008) (2)
Combined genetic deletion of GDF15 and FGF21 has modest effects on body weight, hepatic steatosis and insulin resistance in high fat fed mice (2022) (2)
Genetic Syndromes Associated with Obesity (2010) (2)
Correction: Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance (2017) (2)
Site-specific differences in human adipocyte gene expression. (1997) (2)
Trophoblast organoids as a model for maternal–fetal interactions during human placentation (2018) (2)
The role of leptin in human physiology: Lessons from human experiments of nature (1999) (2)
GDF15 and the beneficial actions of metformin in pre-diabetes (2019) (2)
Fatty Acid Metabolism in Patients with PPAR gamma Mutations (2008) (2)
The islet’s bridesmaid becomes the bride: Proglucagon-derived peptides deliver transformative therapies (2021) (2)
The common H202D variant in GDF-15 does not affect its bioactivity but can significantly interfere with measurement of its circulating levels (2022) (1)
Human obesity and insulin resistance: lessons from experiments of nature. (2007) (1)
Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (1)
Prevalence and expressivity of loss of function mutations in the Melanocortin 4 Receptor (MC4R) in a UK birth cohort (2020) (1)
The imprinted gene Peg3 is not essential for tumor necrosis factor alpha signaling. (2000) (1)
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (2022) (1)
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 (2010) (1)
The islet’s bridesmaid becomes the bride: Proglucagon-derived peptides deliver transformative therapies (2021) (1)
Chapter 28 – Genetic Syndromes Associated with Obesity∗ (2016) (1)
Prenatal analysis of the insulin receptor gene in a family with leprechaunism (1995) (1)
Breaking the spell of food (2009) (1)
Obesity and diabetes: an avalanche of new information. (2000) (1)
Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes (2015) (1)
Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series (2022) (1)
TYPE-2 (NON-INSULIN-DEPENDENT) DIABETES OF EARLY ONSET - A DISTINCT CLINICAL AND GENETIC SYNDROME (1986) (1)
Loci for insulin processing and secretion provide insight into type 2 diabetes risk. (2023) (1)
Tumour necrosis factor is delivered to a mitochondrial receptor. (1999) (1)
A classification of video-conferencing related illness: the zoomnotic diseases. (2020) (1)
Publisher Correction: GDF15 mediates the effects of metformin on body weight and energy balance (2020) (1)
Loss and gain of function experiments implicate TMEM18 as a mediator of the strong association between genetic variants at human Chromosome 2p25.3 and obesity (2017) (1)
Human Melanocortin 4 Receptor Deficiency (2009) (1)
PSY11 - REAL-WORLD EXPERIENCE OF GENERALIZED LIPODYSTROPHY PATIENTS ENROLLED IN THE METRELEPTIN EARLY ACCESS PROGRAM: INITIAL RESULTS (2018) (1)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2019) (1)
A multicomponent screen for feeding behaviour and nutritional status in Drosophila to interrogate mammalian appetite-related genes (2020) (1)
Multipoint linkage analysis of the short arm of chromosome 11 in non-insulin dependent diabetes including maturity onset diabetes of youth (1992) (1)
“Treasure Your Exceptions”—Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture (2020) (1)
In PLoS Biology, volume 1, issue 1: (2003) (1)
Lipodystrophies and Severe Insulin Resistance Syndromes (2021) (1)
Obesity and the adipocyte - A special section consisting of proceedings from the Argenteuil Symposium of the Princess Lilian Cardiology Foundation. Foreword (1997) (1)
Human mutations are associated withmaladaptive behaviors and obesity. (2013) (1)
The ghrelin gene : Candidacy in stature 1 Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a UK population with type 2 diabetes (2007) (0)
Elucidating the aetiology of Prader-Willi syndrome (2009) (0)
Molecular aspects of non-insulin-dependent diabetes (1993) (0)
Final discussion: Nutrition, ageing and lipotoxicity (2007) (0)
Erratum: Depot-related gene expression in human subcutaneous and omental adipocytes (Diabetes (1990) 47, (1384-1391)) (2007) (0)
An update on the genetics of obesity (2010) (0)
Erratum: Differential signaling to glycogen synthesis by the intracellular domain of the insulin versus the insulin-like growth factor-1 receptor. Evidence from studies of TrkC-chimeras (Journal of Biological Chemistry (1997) 272 (24325-24332)) (1997) (0)
POMC and PC1 Mutations (2007) (0)
worsening insulin resistance independently of adiposity relationship between plasma leptin levels and Physical activity energy expenditure may mediate the (2015) (0)
Dominant-negative mutations in PPAR alpha are present in unselected human populations and have a metabolic signature (2018) (0)
SUN-LB107 Functional Characterisation of Human Heterozygous Non-Synonymous MC3R Variants (2020) (0)
A case of type B insulin resistance presenting at a district general hospital (2020) (0)
Title : Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (0)
01-P010 Prader–Willi Syndrome and small nucleolar RNAs (2009) (0)
Arachidonic acid and BRL-49653 enhance glucose uptake in 3T3 L1 adipocytes (1998) (0)
Response to: is zoomnosis an human-driven human zoonosis? A call for action. (2021) (0)
High levels of ACTH can restore adrenal morphology and function in POMC knock out mice (2005) (0)
Corticosterone treatment in Pomc(-/-) mice selectively increases adipose 11 beta-HSD1 expression and promotes the metabolic syndrome (2005) (0)
A selective increase in adipose 11β-HSD1 expression in corticosterone-treated Pomc null mice is associated with development of metabolic syndrome (2006) (0)
PPAR-delta activation reverses multiple metabolic abnormalities, reduces oxidative stress and promotes fat oxidation in obese humans (2007) (0)
Publisher Correction: GDF15 mediates the effects of metformin on body weight and energy balance (2020) (0)
Charles Nicholas Hales. 25 April 1935 — 15 September 2005 (2010) (0)
Erratum: Human SH2B1 mutations are associated with maladaptive behaviors and obesity (Journal of Clinical Investigation (2013) 123:1 (526) DOI: 10.1172/JCI68022) (2013) (0)
Cachexia: A systemic consequence of progressive, unresolved disease (2023) (0)
ETO/MTG8 Is an Inhibitor of C/EBP (cid:2) Activity and a Regulator of Early Adipogenesis (2004) (0)
[ldquo]Why, where and when to do Endocrinology Research[rdquo] (2016) (0)
A novel syndrome of extreme insulin resistance, primordial dwarfism, and gonadal failure (2006) (0)
We-W37:7 Metabolic characterization of a dominant negative PPAR-gamma mouse line (2006) (0)
Association Between Low-Density Lipoprotein Cholesterol – Lowering Genetic Variants and Risk of Type 2 Diabetes AMeta-analysis (2016) (0)
Thiazolidinediones and PGJ(2) have depot-specific effects on human pre-adipocyte differentiation. (1997) (0)
Constitutional Thinness: tALKing the tALK or wALKing the wALK? (2020) (0)
Human Leptin and Leptin Receptor Deficiency (2009) (0)
The BDA Warren Type 2 Diabetes Sibpair Repository: Susceptibility regions identified by genome scan of 439 European families (2000) (0)
Genetic basis of obesity (2008) (0)
Case reports of immunosuppression therapy for anti-insulin receptor and anti-insulin antibodies in patients attending the national severe insulin resistance service (2019) (0)
The Sixth Annual Meeting of the Anglo‐Danish‐Dutch Diabetes Group or Fun in Fyn (1989) (0)
Insulin Resistance and Cardiovascular Disease (1999) (0)
Mo-W2:2 Genetics of obesity and diabetes: Lessons from the extremes (2006) (0)
A multi-component screen for feeding behaviour and nutritional status in Drosophila to interrogate mammalian appetite-related genes (2020) (0)
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (2017) (0)
Syndromes of Severe Insulin Resistance (SSIRs) (2005) (0)
Genes and Common Diseases: Genetics of chronic disease: obesity (2007) (0)
GDF15 antagonism limits severe heart failure and prevents cardiac cachexia in mice (2022) (0)
O-52: A naturally occurring mutation in IRS-1 responsible for severe insulin resistance in a human patient? (2009) (0)
Exome Sequencing Identifies Multiple Genes and Gene-Sets Contributing to Severe Childhood Obesity (2019) (0)
Necrosis factor is trafficked to mitochondria where immunoreactive tumor necrosis factor receptor 2 is localized. (1997) (0)
Genetic Evaluation of Patients with Syndromic and Nonsyndromic Obesity (2014) (0)
Edinburgh Research Explorer Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance (2019) (0)
Melanocortin 2 receptor accessory protein 2 (Mrap2) is associated with obesity and mediates hypothalamic melanocortin-4-receptor trafficking in vivo (2014) (0)
Single Nucleotide Polymorphisms Associated with Clinical Outcomes of High-Dose Insulin Intensification in Type 2 Diabetes (2015) (0)
P-32: TrkC/insulin receptor and TrkC/IGF-1 receptor chimaeras: Tools for the examination of differential signalling to mitogenic and metabolic events by the intracellular domains of the insulin and IGF-1 receptors (2009) (0)
GDF15 mediates the effects of metformin on body weight and energy balance (2019) (0)
Chapter 2 Genetic Obesity Syndromes (2017) (0)
Reply to Taubes, Friedman, and Torres-Carot et al. (2022) (0)
Insulin stimulates glucose uptake and activates protein kinase B in contracting muscles without increasing IRS-1/2 associated PI 3-kinase activity (2000) (0)
Books on molecular diagnostic (1997) (0)
In Vitro and in vivo Characterisation of the Human, Mouse and Rat PGC1β Gene (2003) (0)
Effects of the mu-opioid receptor antagonist GSK1521498 on hedonic and consummatory eating behaviour: a proof of mechanism study in binge-eating obese subjects (2014) (0)
Genetics of Severe Childhood Obesity (2001) (0)
Molecular analysis of p85 alpha phosphoinositide 3-kinase in severe insulin resistance (1998) (0)
Hypomorphism for human NSMCE2/MMS21 causes primordial dwarfism and insulin resistance (2014) (0)
Title Effect of TMEM 18 on the central control of appetite (2017) (0)
OBESITY AS A DISEASE STATE OR ADIPOSITY (2006) (0)
Variation in appetitive behaviour between pet dogs; association with obesity and relationship to owner management factors. (2015) (0)
Normal calcium-activated potassium channel in red cells in type 2 diabetes. (1987) (0)
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference (2018) (0)
Abstract 677: The PPARdelta Agonist GW501516: Influence on Features of the Metabolic Syndrome (2007) (0)
Adipose cell apoptosis is regulated by tumor necrosis factor-alpha and insulin-like growth factor 1 (1997) (0)
Linkage studies of the Type 2 diabetes susceptibility locus on chromosome 1q: Combined analysis of 1200 UK and French affected sibpairs (2002) (0)
Metabolic and cellular phenotype of AKT 2 hyperactiva on Constitutive activation of AKT 2 in humans leads to hypoglycemia without fatty liver or metabolic dyslipidemia (2017) (0)
Glucokinase and non‐insulin‐dependent diabetes (1993) (0)
Running Title : Adiponectin in Type B Insulin Resistance (2007) (0)
Human POMC processing in vitro and in vivo revealed by quantitative peptidomics (2018) (0)
Human obesity: lessons from experiments of nature (2001) (0)
A Digenic Basis for Severe Insulin Resistance in a Large Human Kindred (2002) (0)
Cell biological characterization of a truncated human leptin (frameshift 133) (1998) (0)
Alpha-, beta- and gamma-melanocytes stimulating hormones show differential effects on feeding and hypothalamic neuronal activation in the rat (2000) (0)
Severe Insulin Resistance: Biochemical and Genetic Studies of Insulin Signal Transduction (1995) (0)
Dapper-1, inhibitor of the Wnt pathway, is necessary for differentiation of adypocytes in vitro (2007) (0)
Body composition and lung cancer-associated cachexia in TRACERx (2023) (0)
Type 2 diabetes and the human homolog of the rat insulin resistance gene, CD36: No linkage or association in Europeans (1999) (0)
Obesity and Satiety (2002) (0)
Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy C ONGENITAL GENERALIZED LIPODYSTROPHY [CGL; Berardinelli-Seip syndrome, Online Mendelian Inheritance (2003) (0)
Linkage analysis of the receptor gene and MODY (1988) (0)
208 TRANSIENT NEONATAL DIABETES AS AN EARLY MANIFESTATION OF AN INHERITED INSULIN RESISTANCE SYNDROME? (1994) (0)
Insulin receptoropathies are distinguished from other syndromes of severe insulin resistance by elevated plasma adiponectin levels (2006) (0)
C-terminal truncation of Pik3r1 in mice models human lipodystrophic insulin resistance uncoupled from dyslipidemia (2017) (0)
Elucidating the aetiology of Prader-Willi syndrome: deletion of the HBII-85 class of snoRNA is associated with hyperphagia, obesity and hypogonadism (2009) (0)
POMC mutation in a canine obesity model: dogs with [beta]-MSH and [beta]-endorphin deletion have increased hunger and low resting metabolic rate (2022) (0)
Common metabolic disease: lessons from the extremes (2010) (0)
W11-IS-002 Candidate genes for insulin resistance and the metabolic syndrome in human (2005) (0)
Commentary on the Classification and Diagnosis of Diabetes (2010) (0)
P-109: Impaired activation of phosphatidyl-inositol-3-kinase by insulin in cultured dermal fibroblasts from patients with severe insulin resistance and pseudo-acromegaly (2009) (0)
The Seventh Annual Meeting of the Anglo‐Danish‐Dutch Diabetes Group (1989) (0)
O-10: Mutant insulin receptors Arg1174Gln and Pro1178Leu — naturally occurring insulin receptor mutations as tools in the dissection of insulin signal transduction pathways (2009) (0)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (0)
Molecular Characterisation of Dominant Negative Mutations in Human Pparγ (2002) (0)
Functional Properties of Naturally Occurring Insulin Receptor Mutations (1995) (0)
The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion (2017) (0)

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