2023
High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities
Bloyd M, Sinaii N, Faucz F, Iben J, Coon S, Caprio S, Santoro N, Stratakis C, London E. High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities. Frontiers In Endocrinology 2023, 14: 1272939. PMID: 38027204, PMCID: PMC10679389, DOI: 10.3389/fendo.2023.1272939.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSignaling-related genesProtein kinaseHigh-frequency variantsCAMP-dependent protein kinaseLarge-scale genome-wide association studiesNew genetic associationsPDE11A geneGenomic DNAAssociation studiesMonogenic obesityTargeted exome sequencingGenesGenetic variantsEnergy metabolismGenetic associationExome sequencingNovel variantsVariant searchMetabolic characteristicsVariantsKinaseType II diabetesLociSequencing
2001
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 ResearchConceptsObesity 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