
Director
NORC
+1 415 514-0530
Publications
Author Correction: Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.
Nature metabolism
Identification of AgRP cells in the murine hindbrain that drive feeding.
Molecular metabolism
Ciliary ARL13B prevents obesity in mice.
bioRxiv : the preprint server for biology
KLF15 cistromes reveal a hepatocyte pathway governing plasma corticosteroid transport and systemic inflammation.
Science advances
Melanocortin 4 receptor signals at the neuronal primary cilium to control food intake and body weight.
The Journal of clinical investigation
OR04-01 MRAP2 Regulates Energy Homeostasis by Promoting Primary Cilia Localization of MC4R.
Journal of the Endocrine Society
Detailed 3-dimensional body shape features predict body composition, blood metabolites, and functional strength: the Shape Up! studies.
The American journal of clinical nutrition
Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.
Nature metabolism
CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.
Science (New York, N.Y.)
Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity.
Nature genetics
Cilia and Obesity.
Cold Spring Harbor perspectives in biology
Acute Lesioning and Rapid Repair of Hypothalamic Neurons outside the Blood-Brain Barrier.
Cell reports
Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia.
Obesity (Silver Spring, Md.)
Functional characterization of SIM1-associated enhancers.
Human molecular genetics
The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus.
International journal of obesity (2005)
Mechanism of N-terminal modulation of activity at the melanocortin-4 receptor GPCR.
Nature chemical biology
Weight loss after Roux-en-Y gastric bypass in obese patients heterozygous for MC4R mutations.
Obesity surgery
Replication and extension of association between common genetic variants in SIM1 and human adiposity.
Obesity (Silver Spring, Md.)
Monogenic Disorders Within the Energy Balance Pathway.
Obesity Before Birth
Changes in cortical bone response to high-fat diet from adolescence to adulthood in mice.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Systematic examination of the SIM1 gene region: Replication and extension of association between common genetic variants and adiposity.
Obesity Research & Clinical Practice
Bariatric surgery in a patient with complete MC4R deficiency.
International journal of obesity (2005)
Reduced size-independent mechanical properties of cortical bone in high-fat diet-induced obesity.
Bone
In silico mutagenesis: a case study of the melanocortin 4 receptor.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Narrowing down the role of common variants in the genetic predisposition to obesity.
Genome medicine
Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.
Clinical endocrinology
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
Human molecular genetics
Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene.
The Journal of clinical endocrinology and metabolism
Lessons from extreme human obesity: monogenic disorders.
Endocrinology and metabolism clinics of North America
Gender and neurogenin3 influence the pathogenesis of ketosis-prone diabetes.
Diabetes, obesity & metabolism
Medical sequencing at the extremes of human body mass.
American journal of human genetics
MUTATIONAL ANALYSIS OF THE PROOPIOMELANOCORTIN GENE IN OBESE CHILDREN.
Journal of pediatric gastroenterology and nutrition
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
The Journal of clinical endocrinology and metabolism
Lack of support for the association between GAD2 polymorphisms and severe human obesity.
PLoS biology
High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes.
The Journal of clinical endocrinology and metabolism
A statistical approach for array CGH data analysis.
BMC bioinformatics
PAX4 gene variations predispose to ketosis-prone diabetes.
Human molecular genetics
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans.
The Journal of clinical investigation
A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.
The Journal of clinical endocrinology and metabolism
Emerging trends in the search for genetic variants predisposing to human obesity.
Current opinion in clinical nutrition and metabolic care
Engineering the melanocortin-4 receptor to control G(s) signaling in vivo.
Annals of the New York Academy of Sciences
Molecular genetics of human obesity-associated MC4R mutations.
Annals of the New York Academy of Sciences
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
Human molecular genetics
Elevated plasma ghrelin levels in Prader Willi syndrome.
Nature medicine
The human HNF-3 genes: cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis.
Human heredity
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity.
The Journal of clinical investigation
The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity
Glycodelin: a pane in the implantation window.
Seminars in reproductive medicine
Promegestone (R5020) and mifepristone (RU486) both function as progestational agonists of human glycodelin gene expression in isolated human epithelial cells.
The Journal of clinical endocrinology and metabolism
La mutation du gène du récepteur de la leptine entraîne chez l'homme une obésité massive associée à des anomalies hypothalamo-hypophysaires.
Médecine/sciences
Leptin activation of Stat3 in the hypothalamus of wild-type and ob/ob mice but not db/db mice.
Nature genetics
Gln-Arg192 polymorphism of paraoxonase and coronary heart disease in type 2 diabetes.
Lancet (London, England)
Genetic variation in the beta 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity.
The New England journal of medicine
A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus.
Nature genetics
Expression and regulation of adrenodoxin and P450scc mRNA in rodent tissues.
DNA and cell biology
Human placental protein 14 gene: sequence and characterization of a short duplication.
DNA and cell biology
cAMP regulates P450scc gene expression by a cycloheximide-insensitive mechanism in cultured mouse Leydig MA-10 cells.
Proceedings of the National Academy of Sciences of the United States of America