Mutational Screening of the CART Gene in Obese Children Identifying a Mutation (Leu34Phe) Associated With Reduced Resting Energy Expenditure and Cosegregating With Obesity Phenotype in a Large Family
del Giudice E, Santoro N, Cirillo G, D’Urso L, Di Toro R, Perrone L. Mutational Screening of the CART Gene in Obese Children Identifying a Mutation (Leu34Phe) Associated With Reduced Resting Energy Expenditure and Cosegregating With Obesity Phenotype in a Large Family. Diabetes 2001, 50: 2157-2160. PMID: 11522684, DOI: 10.2337/diabetes.50.9.2157.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceBase SequenceChildChild, PreschoolEnergy MetabolismFemaleGenetic TestingHumansMaleMolecular Sequence DataMutationMutation, MissenseNerve Tissue ProteinsObesityPedigreePhenotypePolymorphism, Single-Stranded ConformationalRestConceptsObesity onsetObesity phenotypesEnergy expenditureZ-scoreObese Italian childrenSevere obesity phenotypeBMI z-scoreAmphetamine-regulated transcriptResting Energy ExpenditureCART geneCodon 34CART effectsSympathetic outflowObese patientsLeptin levelsObese childrenObese subjectsHypothalamic areaBMI percentileAppetite regulationCART peptideObese boysAverage agePatientsControl population