Research Topics
Genomes and GenesSpecies | Christian VaisseSummaryAffiliation: University of California Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutationsCecile Lubrano-Berthelier
Diabetes Center and Department of Medicine, University of California, San Francisco, CA 94143, USA
Hum Mol Genet 12:145-53. 2003..This result has implications for the potential pharmacologic rescue of childhood obesity-associated MC4R mutations and for the treatment of patients presenting with this condition...
Narrowing down the role of common variants in the genetic predisposition to obesityMelissa A Calton
Diabetes Center, University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
Genome Med 1:31. 2009....
A statistical approach for array CGH data analysisFranck Picard
Institut National Agronomique Paris Grignon, UMR INAPG ENGREF INRA MIA 518, Paris, France
BMC Bioinformatics 6:27. 2005..Two major problems arise: to determine which parameters are affected by the abrupt changes (the mean and the variance, or the mean only), and the selection of the number of segments in the profile...
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesityC Vaisse
Centre National de la Recherche Scientifique, UPRES A 8090, Institute of Biology of Lille, Lille, France
J Clin Invest 106:253-62. 2000..Taken together, these results demonstrate that MC4-R mutations are a frequent but heterogeneous genetic cause of morbid obesity...
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humansSupriya Srinivasan
Gladstone Institute of Cardiovascular Disease, UCSF, San Francisco, California 94143 0540, USA
J Clin Invest 114:1158-64. 2004..Our results also suggest that the tonic satiety signal provided by the constitutive activity of MC4R may be required for maintaining long-term energy homeostasis in humans...
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eatingCecile Lubrano-Berthelier
Diabetes Center and Department of Medicine, University of California San Francisco, San Francisco, California 94143 0573, USA
J Clin Endocrinol Metab 91:1811-8. 2006..There are conflicting reports regarding the prevalence, nature, and pathogenic effects of MC4R mutations in adults with severe late-onset obesity...
Replication and extension of association between common genetic variants in SIM1 and human adiposityMichael M Swarbrick
Diabetes Center and Department of Medicine, University of California, San Francisco, California, USA
Obesity (Silver Spring) 19:2394-403. 2011..In white males, rs4072568 in ARNT2 was also associated with BMI (P = 9 × 10(-4)) and % body fat (P = 0.001). Our findings implicate heritable defects of the SIM1-ARNT2 axis in the predisposition to human obesity...
Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its functionCedric Govaerts
Cellular and Molecular Pharmacology Department, University of California, San Francisco, CA 94143, USA
Peptides 26:1909-19. 2005....
The human MC4R promoter: characterization and role in obesityCecile Lubrano-Berthelier
Department of Medicine, University of California San Francisco, San Francisco, California 94143 0573, USA
Diabetes 52:2996-3000. 2003....
Molecular genetics of human obesity-associated MC4R mutationsCecile Lubrano-Berthelier
Department of Medicine, University of California, San Francisco, California 94143, USA
Ann N Y Acad Sci 994:49-57. 2003....
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control studyMelissa A Calton
Diabetes Center, University of California San Francisco, San Francisco, CA 94143, USA
Hum Mol Genet 18:1140-7. 2009..However, our data suggest that MC3R mutations are not associated with severe obesity in this population...
A homozygous null mutation delineates the role of the melanocortin-4 receptor in humansCecile Lubrano-Berthelier
Department of Medicine, University of California, San Francisco, California 94143 0573, USA
J Clin Endocrinol Metab 89:2028-32. 2004..In addition, complete MC4R deficiency is not a cause of relative hyperinsulinemia as recently observed in children with heterozygous MC4R mutations...
Mechanism of N-terminal modulation of activity at the melanocortin-4 receptor GPCRBaran A Ersoy
Department of Medicine, University of California San Francisco, San Francisco, CA, USA
Nat Chem Biol 8:725-30. 2012....
Weight loss after Roux-en-Y gastric bypass in obese patients heterozygous for MC4R mutationsIvy R Aslan
Department of Pediatrics, Division of Endocrinology, University of California San Francisco, San Francisco, CA 94143, USA
Obes Surg 21:930-4. 2011..Bariatric surgery is a successful treatment for severe obesity. The mechanisms of weight loss after bariatric surgery are not well understood...
Engineering the melanocortin-4 receptor to control constitutive and ligand-mediated G(S) signaling in vivoSupriya Srinivasan
Gladstone Institute of Cardiovascular Disease, University of California at San Francisco, San Francisco, California, United States of America
PLoS ONE 2:e668. 2007..Our study also demonstrates the use of human genetic variation for protein engineering...
Engineering the melanocortin-4 receptor to control G(s) signaling in vivoSupriya Srinivasan
Gladstone Institute of Cardiovascular Disease, University of California, San Francisco, California 94141, USA
Ann N Y Acad Sci 994:225-32. 2003..The MC4R G(s) RASSL could be used to control many physiological responses associated with G(s) signaling such as heart rate, energy homeostasis, and cell proliferation...
Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidusSayali A Ranadive
Department of Pediatrics, Division of Endocrinology, University of California San Francisco, San Francisco, CA 94143, USA
Clin Endocrinol (Oxf) 71:388-93. 2009..We report two infants with XNDI, and present the characterization and functional rescue of a novel V2R mutation...
Lack of support for the association between GAD2 polymorphisms and severe human obesityMichael M Swarbrick
Diabetes Center, University of California, San Francisco, California, USA
PLoS Biol 3:e315. 2005....
Emerging trends in the search for genetic variants predisposing to human obesityMichael M Swarbrick
Diabetes Center, University of California, San Francisco, California 94143-0540, USA
Curr Opin Clin Nutr Metab Care 6:369-75. 2003....
Lessons from extreme human obesity: monogenic disordersSayali A Ranadive
Department of Pediatrics, Division of Endocrinology, University of California San Francisco, 513 Parnassus Avenue, Room S672D, San Francisco, CA 94143 0434, USA
Endocrinol Metab Clin North Am 37:733-51, x. 2008..This finding suggests that the genetic basis for human obesity is likely to be extremely heterogeneous, with contributions from numerous genes acting by various, yet undiscovered, molecular mechanisms...
Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domainBeatrice Dubern
Center of Research on Human Nutrition Ile de France, 75004 Paris, France
Pediatr Res 63:211-6. 2008..The novel heterozygous mutation Phe144Leu leading to the absence of melanocortin signaling was associated with early-onset obesity suggesting its pathogenic role...
Elevated plasma ghrelin levels in Prader Willi syndromeDavid E Cummings
Department of Medicine, VA Puget Sound Health Care System and Harborview Medical Center University of Washington, Seattle, Washington, USA
Nat Med 8:643-4. 2002
Research Grants
- The Melanocortin-4 Receptor in Human ObesityChristian Vaisse; Fiscal Year: 2009..These experiments could lead to new strategies to pharmacologically target MC4R for the treatment of obesity. ..
- Role of Pro-opiomelanocortin mutations in human obesityChristian Vaisse; Fiscal Year: 2007....
- The Melanocortin-4 Receptor in Human ObesityChristian Vaisse; Fiscal Year: 2007..These experiments could lead to new strategies to pharmacologically target MC4R for the treatment of obesity. ..
- The Melanocortin-4 Receptor in Human ObesityChristian Vaisse; Fiscal Year: 2005....
- The Melanocortin-4 Receptor in Human ObesityChristian Vaisse; Fiscal Year: 2010..These experiments could lead to new strategies to pharmacologically target MC4R for the treatment of obesity. ..
