2014
Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes
Giannini C, Man C, Groop L, Cobelli C, Zhao H, Shaw MM, Duran E, Pierpont B, Bale AE, Caprio S, Santoro N. Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes. Diabetes Care 2014, 37: 475-482. PMID: 24062323, PMCID: PMC3898754, DOI: 10.2337/dc13-1458.Peer-Reviewed Original ResearchConceptsIGT/T2DImpaired glucose toleranceNormal glucose toleranceInsulin secretionRisk allelesGlucose toleranceObese childrenChance of progressionType 2 diabetesHigh genetic predispositionHigh-risk scoreOral minimal modelObese subjectsPediatric obesityProgressive worseningHyperglycemic clampObese youthHigh riskLower oddsRisk scoreGenetic predispositionT2DSecretionGene variantsEarly phase
2012
Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates
Lostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST. Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates. BMC Public Health 2012, 12: 118. PMID: 22324969, PMCID: PMC3340300, DOI: 10.1186/1471-2458-12-118.Peer-Reviewed Original Research
2011
Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents
Santoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S. Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology 2011, 55: 781-789. PMID: 22105854, PMCID: PMC3288435, DOI: 10.1002/hep.24806.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentApolipoprotein C-IIIBlack or African AmericanChildFatty LiverFemaleGene FrequencyGenetic Predisposition to DiseaseHaplotypesHispanic or LatinoHumansLipaseLipoproteins, VLDLMaleMembrane ProteinsObesityPolymorphism, Single NucleotideRisk FactorsTriglyceridesWhite PeopleConceptsFatty liverObese childrenSingle nucleotide polymorphismsTriglyceride levelsOral glucose tolerance testGlucokinase regulatory proteinGlucose tolerance testHepatic fat accumulationAccumulation of triglyceridesLow-density lipoproteinElevated triglyceridesLarge VLDLTolerance testFat accumulationObese youthGlucokinase regulatory protein geneMagnetic resonancePNPLA3LiverRs1260326African AmericansTriglyceridesLipoproteinChildrenNucleotide polymorphisms
2010
A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents
Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010, 52: 1281-1290. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.Peer-Reviewed Original ResearchConceptsPatatin-like phospholipase 3 geneNonalcoholic fatty liver diseaseFatty liver diseaseG alleleHepatic steatosisLiver diseaseLow leptinObese youthPeripheral glucose disposal rateAdipogenesis/lipogenesisHepatic glucose production ratePNPLA3 G alleleGlucose disposal ratePeripheral insulin resistanceSingle nucleotide polymorphismsSirtuin 1 expressionSubcutaneous fat biopsiesHepatic fat contentAdipocyte cell sizeSubset of subjectsAdipose cell sizeMagnetic resonance imagingAfrican AmericansCommon variantsExpression of PNPLA3
2005
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory
Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 611-619. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaBasal cell carcinomaCell carcinomaPTCH mutationsJaw cystsNevoid basal cell carcinoma syndromeCentral nervous system malformationsBasal cell carcinoma syndromeNervous system malformationsPeripheral blood leukocytesPTCH genePositive test resultsClinical featuresOvarian fibromaPathologic featuresCorpus callosumOcular abnormalitiesBlood leukocytesCarcinoma syndromeSystem malformationsPalmar pitsCleft lipClinical testingFalx cerebriCarcinoma
1999
Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children
Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.Peer-Reviewed Original ResearchConceptsMedullary thyroid carcinomaFamilial medullary thyroid carcinomaRET geneLymph node metastasisMutation-positive family membersC-cell hyperplasiaEvidence of pathologyDecades of lifeFamily membersGenotype-phenotype correlationCodon 618Node metastasisProvocative testingClinical spectrumCodon 804Extracellular cysteine-rich regionPathologic manifestationsThyroid carcinomaNormal responseGenetic testingCarcinomaChildrenPresymptomatic diagnosisExon 14Microscopic evidence
1997
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeMean ageCell carcinomaFirst tumorJaw cystsCarcinoma syndromePlantar pitsNumber of BCCsFalx cerebriPalmar/plantar pitsMultiple basal cell carcinomasAffected individualsAutosomal dominant disorderImportant radiological signsOvarian fibromaUS patientsClinical manifestationsPercent of whitesRadiological signsPhysical findingsBifid ribsSprengel's deformityRadiation therapy
1996
Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.Peer-Reviewed Original ResearchConceptsGorlin syndromeGorlin syndrome patientsSyndrome patientsMultiple basal cell carcinomasConductive hearing lossBasal cell carcinomaAllelic lossCancer predisposition syndromeAutosomal dominant disorderGerm-line deletionOvarian fibromaSecond patientCell carcinomaHearing lossGroup AGroup CPatientsSyndromeDominant mutationsSignificant phenotypic variabilityGorlin syndrome geneDominant disorderNull mutationXeroderma pigmentosum group AIdentical alterations
1994
Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q
Compton J, Kearns K, Bale S, Goldstein A, Turner M, Bale A, McBride O. Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q. Journal Of Investigative Dermatology 1994, 103: 178-181. PMID: 8040607, DOI: 10.1111/1523-1747.ep12392682.Peer-Reviewed Original ResearchClinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
Goldstein A, Pastakia B, Digiovanna J, Poliak S, Santucci S, Kase R, Bale A, Bale S. Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC). American Journal Of Medical Genetics 1994, 50: 272-281. PMID: 8042672, DOI: 10.1002/ajmg.1320500311.Peer-Reviewed Original Research
1992
Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22
Cannon-Albright L, Goldgar D, Meyer L, Lewis C, Anderson D, Fountain J, Hegi M, Wiseman R, Petty E, Bale A, Olopade O, Diaz M, Kwiatkowski D, Piepkorn M, Zone J, Skolnick M. Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22. Science 1992, 258: 1148-1152. PMID: 1439824, DOI: 10.1126/science.1439824.Peer-Reviewed Original ResearchConceptsMelanoma susceptibility locusSusceptibility lociFamilial melanoma susceptibilityInterferon alpha genesFamilial melanomaMultipoint linkage analysisShort tandem repeat markersRepeat markersTandem repeat markersChromosomal regionsGenetic markersLinkage analysisLociSomatic lossMelanoma susceptibilityMelanoma tumorsGermline deletionChromosome 9p21Maximum location scoreHomozygous deletionCritical roleCandidate regionsDeletionUtah kindredsChromosomes