2016
Association of Environmental Toxins With Amyotrophic Lateral Sclerosis
Su F, Goutman S, Chernyak S, Mukherjee B, Callaghan B, Batterman S, Feldman E. Association of Environmental Toxins With Amyotrophic Lateral Sclerosis. JAMA Neurology 2016, 73: 803-11. PMID: 27159543, PMCID: PMC5032145, DOI: 10.1001/jamaneurol.2016.0594.Peer-Reviewed Original ResearchMeSH KeywordsAgedAmyotrophic Lateral SclerosisCase-Control StudiesEnvironmental ExposureEnvironmental PollutantsFemaleGas Chromatography-Mass SpectrometryHumansMaleMichiganMiddle AgedMultivariate AnalysisOccupational ExposureOdds RatioOutcome Assessment, Health CareRetrospective StudiesRisk FactorsSurveys and QuestionnairesConceptsBrominated flame retardantsPersistent environmental pollutantsResidential exposureOrganochlorine pesticidesPolychlorinated biphenylsOdds of ALSAssociation of occupational exposureDisease risk factorsExposure time windowsEnvironmental pollutionRisk factorsModifiable risk factorsMultivariate modelOccupational exposureLogistic regression modelsCase-control studySurvey dataFamily history of amyotrophic lateral sclerosisExposure windowsIncreased oddsFamily historyAssociated with amyotrophic lateral sclerosisHistory of amyotrophic lateral sclerosisRegression modelsMilitary service
2010
MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
Borràs E, Pineda M, Blanco I, Jewett E, Wang F, Teulé À, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso Á, Lanas Á, González S, Moreno V, Gruber S, Rosenberg N, Mukherjee B, Lázaro C, Capellá G. MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families. Cancer Research 2010, 70: 7379-7391. PMID: 20858721, DOI: 10.1158/0008-5472.can-10-0570.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAge FactorsAgedBase SequenceColorectal Neoplasms, Hereditary NonpolyposisFamily HealthFemaleGenetic Predisposition to DiseaseGerm-Line MutationHaplotypesHCT116 CellsHumansMaleMiddle AgedMolecular Sequence DataMutL Protein Homolog 1Nuclear ProteinsPenetranceSpainYoung AdultConceptsLynch syndrome familiesMLH1 c.Molecular diagnosis of Lynch syndromeSyndrome familiesDiagnosis of Lynch syndromeFounder originModerate penetranceModified segregation analysisDNA repair gene MLH1Lynch syndromeMLH1 mutationsGenes MLH1Founder effectMRNA processingLoss of expressionFounder mutationEstimated penetranceFamily historySegregation analysisHaplotype analysisIdentified mutationsCarrier familyPathogenic mutationsGenetic counselingMLH1 proteinHFE H63D Polymorphism as a Modifier of the Effect of Cumulative Lead Exposure on Pulse Pressure: The Normative Aging Study
Zhang A, Park S, Wright R, Weisskopf M, Mukherjee B, Nie H, Sparrow D, Hu H. HFE H63D Polymorphism as a Modifier of the Effect of Cumulative Lead Exposure on Pulse Pressure: The Normative Aging Study. Environmental Health Perspectives 2010, 118: 1261-1266. PMID: 20478760, PMCID: PMC2944087, DOI: 10.1289/ehp.1002251.Peer-Reviewed Original ResearchConceptsCumulative lead exposureHFE H63D polymorphismC282Y variantBone lead levelsAssociated with steeper increasesLinear mixed-effects regression modelsFamily history of hypertensionMixed-effects regression modelsDaily intake of calciumNormative Aging StudyPredictor of cardiovascular diseaseWaist circumferenceIntake of calciumHistory of hypertensionLead exposureH63D polymorphismAlcohol intakeRandom interceptFamily historyMarker of arterial stiffnessTotal caloriesAging StudySteeper increasesLead levelsCardiovascular disease