Minireview: Human Obesity—Lessons from Monogenic Disorders

Positional cloning of the mouse obese gene and its human homologue

1994 • 12,975 citations

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

2001 • 4,997 citations

Obesity as a medical problem

2000 • 4,948 citations

Effects of the obese Gene Product on Body Weight Regulation in ob / ob Mice

1995 • 4,057 citations

Identification and expression cloning of a leptin receptor, OB-R

1995 • 3,498 citations

de la Chapelle, A.

1997 • 3,184 citations

Targeted Disruption of the Melanocortin-4 Receptor Results in Obesity in Mice

1997 • 2,992 citations

Congenital leptin deficiency is associated with severe early-onset obesity in humans

1997 • 2,900 citations

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

1998 • 2,333 citations

Leptin activates anorexigenic POMC neurons through a neural network in the arcuate nucleus

2001 • 2,288 citations

Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression

1998 • 2,143 citations

Effects of Recombinant Leptin Therapy in a Child with Congenital Leptin Deficiency

1999 • 1,959 citations

Antagonism of Central Melanocortin Receptors in Vitro and in Vivo by Agouti-Related Protein

1997 • 1,835 citations

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

1998 • 1,666 citations

Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene

2003 • 1,665 citations

Genetic and environmental factors in relative body weight and human adiposity.

1997 • 1,486 citations

Recombinant Leptin for Weight Loss in Obese and Lean Adults

1999 • 1,408 citations

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency

2002 • 1,312 citations

An Adoption Study of Human Obesity

1986 • 1,308 citations

The Body-Mass Index of Twins Who Have Been Reared Apart

1990 • 1,283 citations

A leptin missense mutation associated with hypogonadism and morbid obesity

1998 • 1,187 citations

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

1997 • 1,125 citations

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency

2002 • 1,051 citations

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

2000 • 896 citations

A Twin Study of Human Obesity

1986 • 872 citations

Genetics of body-weight regulation

2000 • 797 citations

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

2000 • 795 citations

Molecular characterization of the mouse agouti locus

1992 • 791 citations

Proopiomelanocortin Neurons Are Direct Targets for Leptin in the Hypothalamus

1997 • 731 citations

Human Leptin Deficiency Caused by a Missense Mutation: Multiple Endocrine Defects, Decreased Sympathetic Tone, and Immune System Dysfunction Indicate New Targets for Leptin Action, Greater Central than Peripheral Resistance to the Effects of Leptin, and Spontaneous Correction of Leptin-Mediated Defects

1999 • 688 citations

Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity

1995 • 669 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1991 • 637 citations

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

2001 • 633 citations

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

1997 • 536 citations

Leptin Prevents Fasting-Induced Suppression of Prothyrotropin-Releasing Hormone Messenger Ribonucleic Acid in Neurons of the Hypothalamic Paraventricular Nucleus*

1997 • 488 citations

A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2

1997 • 443 citations

Several Mutations in the Melanocortin-4 Receptor Gene Including a Nonsense and a Frameshift Mutation Associated with Dominantly Inherited Obesity in Humans

1999 • 439 citations

Partial leptin deficiency and human adiposity

2001 • 402 citations

A genome-wide scan for human obesity genes reveals a major susceptibility locus on chromosome 10

1998 • 385 citations

Genetics and Pathophysiology of Human Obesity

2003 • 381 citations

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

2002 • 380 citations

A War on Obesity, Not the Obese

2003 • 371 citations

Low Dose Leptin Administration Reverses Effects of Sustained Weight-Reduction on Energy Expenditure and Circulating Concentrations of Thyroid Hormones

2002 • 369 citations

Is the Energy Homeostasis System Inherently Biased Toward Weight Gain?

2003 • 355 citations

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

2002 • 352 citations

Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects

2002 • 338 citations

Transcriptional regulation of the thyrotropin-releasing hormone gene by leptin and melanocortin signaling

2001 • 333 citations

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

2000 • 326 citations

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

2002 • 305 citations

α-Melanocyte-Stimulating Hormone Is Contained in Nerve Terminals Innervating Thyrotropin-Releasing Hormone-Synthesizing Neurons in the Hypothalamic Paraventricular Nucleus and Prevents Fasting-Induced Suppression of Prothyrotropin-Releasing Hormone Gene Expression

2000 • 304 citations

The Molecular Genetics of Rodent Single Gene Obesities

1997 • 293 citations

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 • 284 citations

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

2001 • 271 citations

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

2001 • 267 citations

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

1992 • 265 citations

Genetics of obesity in adult adoptees and their biological siblings.

1989 • 240 citations

The Necdin Gene is Deleted in Prader-Willi Syndrome and is Imprinted in Human and Mouse

1997 • 230 citations

A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region

1999 • 225 citations

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

2003 • 225 citations

Thermogenic defect in pre-obese ob/ob mice

1977 • 220 citations

Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome

2002 • 204 citations

Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children

2001 • 197 citations

The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region

1999 • 183 citations

Exploring the molecular basis of Bardet-Biedl syndrome

2001 • 169 citations

Gs_α Mutations and Imprinting Defects in Human Disease

2002 • 142 citations

The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models

2000 • 130 citations

RAPID COMMUNICATION: A Novel Melanocortin 4 Receptor (MC4R) Gene Mutation Associated with Morbid Obesity

2001 • 129 citations

Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain

2000 • 128 citations

A Cross-sectional Examination of Height, Weight, and Body Mass Index in Adult Twins

1995 • 123 citations

The quantitative trait locus on chromosome 2 for serum leptin levels is confirmed in African-Americans.

1999 • 117 citations

A Novel Homozygous Missense Mutation of Melanocortin-4 Receptor (MC4R) in a Japanese Woman With Severe Obesity

2002 • 107 citations

Heterozygosity forLep^oborLepr^dbaffects body composition and leptin homeostasis in adult mice

1998 • 105 citations

The Genetic Contribution to Stature

1996 • 88 citations

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

1994 • 85 citations

Genetic and environmental contributions to the association between body height and educational attainment: a study of adult Finnish twins.

2000 • 75 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1992 • 74 citations

Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations

2001 • 70 citations

Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome

1999 • 68 citations

Truncated Human Leptin (Δ133) Associated with Extreme Obesity Undergoes Proteasomal Degradation after Defective Intracellular Transport*

1999 • 67 citations

New X‐linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255

1991 • 64 citations

Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity

1999 • 56 citations

Basal Corticosterone Levels of Young ob/ob Mice

1977 • 48 citations

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

2002 • 35 citations

Analysis of Genomic Imprinting of Gsα Gene

2002 • 6 citations