2021
Nonalcoholic Fatty Liver Disease (NAFLD) Association with Pediatric Diabetes
Santoro N, Goldberg-Gel R, Caprio S. Nonalcoholic Fatty Liver Disease (NAFLD) Association with Pediatric Diabetes. Contemporary Endocrinology 2021, 181-189. DOI: 10.1007/978-3-030-64133-7_17.BooksNonalcoholic fatty liver diseaseLiver diseaseDevelopment of NAFLDDevelopment of cirrhosisCommon liver diseaseFatty liver diseaseType 2 diabetesType 1 diabetesClinical characteristicsPediatric groupChronic conditionsPediatric diabetesCurrent treatmentHepatocellular carcinomaDiabetesDisease associationsDiseaseCirrhosisCarcinomaPathophysiologyPediatrics
2019
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz F, Chen L, Chen S, Contreras-Cubas C, Córdova E, Correa A, Cortes M, DeFronzo RA, Dolan L, Drews KL, Elliott A, Floyd JS, Gabriel S, Garay-Sevilla ME, García-Ortiz H, Gross M, Han S, Heard-Costa NL, Jackson AU, Jørgensen ME, Kang HM, Kelsey M, Kim BJ, Koistinen HA, Kuusisto J, Leader JB, Linneberg A, Liu CT, Liu J, Lyssenko V, Manning AK, Marcketta A, Malacara-Hernandez JM, Martínez-Hernández A, Matsuo K, Mayer-Davis E, Mendoza-Caamal E, Mohlke KL, Morrison AC, Ndungu A, Ng MCY, O’Dushlaine C, Payne AJ, Pihoker C, Post W, Preuss M, Psaty B, Vasan R, Rayner N, Reiner A, Revilla-Monsalve C, Robertson N, Santoro N, Schurmann C, So W, Soberón X, Stringham H, Strom T, Tam C, Thameem F, Tomlinson B, Torres J, Tracy R, van Dam R, Vujkovic M, Wang S, Welch R, Witte D, Wong T, Atzmon G, Barzilai N, Blangero J, Bonnycastle L, Bowden D, Chambers J, Chan E, Cheng C, Cho Y, Collins F, de Vries P, Duggirala R, Glaser B, Gonzalez C, Gonzalez M, Groop L, Kooner J, Kwak S, Laakso M, Lehman D, Nilsson P, Spector T, Tai E, Tuomi T, Tuomilehto J, Wilson J, Aguilar-Salinas C, Bottinger E, Burke B, Carey D, Chan J, Dupuis J, Frossard P, Heckbert S, Hwang M, Kim Y, Kirchner H, Lee J, Lee J, Loos R, Ma R, Morris A, O’Donnell C, Palmer C, Pankow J, Park K, Rasheed A, Saleheen D, Sim X, Small K, Teo Y, Haiman C, Hanis C, Henderson B, Orozco L, Tusié-Luna T, Dewey F, Baras A, Gieger C, Meitinger T, Strauch K, Lange L, Grarup N, Hansen T, Pedersen O, Zeitler P, Dabelea D, Abecasis G, Bell G, Cox N, Seielstad M, Sladek R, Meigs J, Rich S, Rotter J, Altshuler D, Burtt N, Scott L, Morris A, Florez J, McCarthy M, Boehnke M. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature 2019, 570: 71-76. PMID: 31118516, PMCID: PMC6699738, DOI: 10.1038/s41586-019-1231-2.Peer-Reviewed Original ResearchConceptsExome-wide significanceProtein-coding genetic variantsDrug targetsRare variantsGene-level associationsType 2 diabetesRare variant associationsGene setsCandidate genesExome sequencing analysisGenetic variantsNon-diabetic control participantsExome sequencingGenesKnockout micePrioritization effortsDisease riskVariantsFuture targetsControl participantsTargetDiabetesEffect sizeSequencingHeritabilityChapter 11 Pediatric Nonalcoholic Fatty Liver Disease (NAFLD) and Type 2 Diabetes Pathophysiologic Links and Potential Implications
Galderisi A, Martino M, Santoro N. Chapter 11 Pediatric Nonalcoholic Fatty Liver Disease (NAFLD) and Type 2 Diabetes Pathophysiologic Links and Potential Implications. 2019, 91-99. DOI: 10.1016/b978-0-323-55138-0.00011-5.BooksNonalcoholic fatty liver diseaseFatty liver diseaseType 2 diabetesLiver diseasePediatric nonalcoholic fatty liver diseasePathophysiology of NAFLDEnd-stage liver diseaseIndependent risk factorPathophysiologic linkCommon complicationSimple steatosisPediatric obesityInsulin resistanceRisk factorsType 2Disease severityDiseaseDiabetesWide spectrumComplicationsPotential implicationsSteatosisObesityPathophysiologySeverity
2018
Chapter 4 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome
Santoro N, Giannini C, Caprio S. Chapter 4 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome. 2018, 43-52. DOI: 10.1016/b978-0-12-812019-4.00004-0.ChaptersInsulin resistanceAge groupsΒ-cellsChapter 4 ObesityPediatric age groupEctopic fat depositionProgression of obesityType 2 diabetesOvert diabetesObesity complicationsObese childrenChildhood obesityMore insulinSerum glucoseInsulin secretionPediatric diseasesNormal rangeType 2Progressive deteriorationObesityFat depositionDiabetesDiseaseComplicationsGroup
2012
Metabolic Syndrome in Childhood as a Risk Factor for Type 2 Diabetes
Santoro N, Giannini C, Caprio S. Metabolic Syndrome in Childhood as a Risk Factor for Type 2 Diabetes. 2012, 83-91. DOI: 10.1007/978-1-4471-2366-8_4.ChaptersType 2 diabetesMetabolic syndromeInsulin resistanceObese childrenInsulin-resistant statesObese subjectsGlucose dysregulationChildhood obesityRisk factorsWorldwide epidemicFrequent causeSex steroidsType 2DiabetesGrowth hormoneSyndromeObesityInsulin effectPutative defectPrevalenceChildrenCarbohydrate metabolismProgressionPathogenesisPediatricsChapter 6 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome
Santoro N, Giannini C, Caprio S. Chapter 6 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome. 2012, 77-87. DOI: 10.1016/b978-0-12-385083-6.00006-1.ChaptersInsulin resistanceΒ-cellsChapter 6 ObesityEctopic fat depositionProgression of obesityType 2 diabetesObesity complicationsObese childrenPediatric ageChildhood obesityMore insulinSerum glucoseInsulin secretionPediatric diseasesNormal rangeType 2Progressive deteriorationObesityFat depositionDiseaseInsulinComplicationsDiabetesPediatriciansPrevalence