2024
Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesity
Galuppo B, Mannam P, Bonet J, Pierpont B, Trico’ D, Haskell-Luevano C, Ericson M, Freeman K, Philbrick W, Bale A, Caprio S, Santoro N. Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesity. International Journal Of Obesity 2024, 49: 819-826. PMID: 39738493, PMCID: PMC12095050, DOI: 10.1038/s41366-024-01706-0.Peer-Reviewed Original ResearchOral glucose tolerance testVisceral adipose tissueMelanocortin-4 receptor geneSubcutaneous adipose tissueVariant groupYale Pediatric Obesity ClinicInsulin resistanceEarly-onset obesityBMI z-scorePediatric obesity clinicRare variantsAdipose tissueAbdominal fat distributionDegree of obesityGlucose tolerance testTotal body fatIntrahepatic fat contentLower insulin sensitivityIntrahepatic fat accumulationAssociated with abdominal fatAbdominal MRIObesity clinicMetabolic sequelaePathogenic variantsFat distributionFunctional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity
Mohammed I, Selvaraj S, Ahmed W, Al-Barazenji T, Dauleh H, Love D, Saraiva L, Hussain K. Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity. International Journal Of Molecular Sciences 2024, 25: 11815. PMID: 39519366, PMCID: PMC11547096, DOI: 10.3390/ijms252111815.Peer-Reviewed Original ResearchAdenylate cyclase 3Early-onset obesityRegulating various downstream signaling pathwaysIn silico functional characterizationHomozygous nonsense variant c.Homozygous loss-of-function variantsIn silico functional analysisLoss-of-function variantsReceptor loss of functionNonsense variant c.Impaired enzymatic activityGene panel sequencingATP to cAMPIn silico validationDownstream Signaling PathwaysGain-of-function variantsPrimary cilia of neuronsIn vitroInsulin resistanceLoss of functionTransmembrane proteinsFunctional characterizationPrimary ciliaNovel p.Variant c.
2022
978-P: Rare Variants in Melanocortin 4 Receptor Gene (MC4R) Are Associated with Increased Visceral Fat and Altered Glucose Metabolism Independent of the Effect of Obesity in Children
GALUPPO B, MANNAM P, TRICO D, BALE A, CAPRIO S, SANTORO N. 978-P: Rare Variants in Melanocortin 4 Receptor Gene (MC4R) Are Associated with Increased Visceral Fat and Altered Glucose Metabolism Independent of the Effect of Obesity in Children. Diabetes 2022, 71 DOI: 10.2337/db22-978-p.Peer-Reviewed Original ResearchOral glucose tolerance testEffect of obesityIntrahepatic fatInsulin resistanceVisceral fatMelanocortin-4 receptor gene mutationsVariant groupsSimilar BMI z-scoresOverweight/obese youthRare variantsAbdominal fat distributionGlucose tolerance testLower insulin clearanceBMI z-scoreEarly-onset obesityBody fat percentageΒ-cell functionGreater visceral fatMelanocortin-4 receptor geneHigher plasma glucoseRegion of MC4RReceptor gene mutationsMetabolic sequelaeInsulin clearanceTolerance test
2015
Reducing Adiposity in a Critical Developmental Window Has Lasting Benefits in Mice
Lerea JS, Ring LE, Hassouna R, Chong AC, Szigeti-Buck K, Horvath TL, Zeltser LM. Reducing Adiposity in a Critical Developmental Window Has Lasting Benefits in Mice. Endocrinology 2015, 157: 666-678. PMID: 26587784, PMCID: PMC4733128, DOI: 10.1210/en.2015-1753.Peer-Reviewed Original ResearchConceptsDietary interventionBrown adipose tissue thermogenesisWeight lossEarly-onset hyperphagiaRapid weight regainEarly-onset obesityEnergy expenditureAdipose tissue thermogenesisCritical developmental windowWeight regainSympathetic toneMetabolic improvementHypothalamic leptinTissue thermogenesisEarly interventionCompensatory decreaseUnfavorable responseMiceMost adultsObesityAdiposityInterventionDevelopmental windowAdultsBrown adipose tissue mitochondria
1994
Teasing, body image, and self-esteem in a clinical sample of obese women
Grilo C, Wilfley D, Brownell K, Rodin J. Teasing, body image, and self-esteem in a clinical sample of obese women. Addictive Behaviors 1994, 19: 443-450. PMID: 7992678, DOI: 10.1016/0306-4603(94)90066-3.Peer-Reviewed Original Research
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