2011
Genetic Modifiers of Liver Injury in Hereditary Liver Disease
Ala A, Schilsky M. Genetic Modifiers of Liver Injury in Hereditary Liver Disease. Seminars In Liver Disease 2011, 31: 208-214. PMID: 21538285, DOI: 10.1055/s-0031-1276648.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAlpha 1-AntitrypsinAlpha 1-Antitrypsin DeficiencyAnimalsCation Transport ProteinsCopper-transporting ATPasesDisease ProgressionGenetic Predisposition to DiseaseHemochromatosisHemochromatosis ProteinHepatolenticular DegenerationHeredityHistocompatibility Antigens Class IHumansLiverMembrane ProteinsPhenotypeSeverity of Illness IndexConceptsLiver diseaseWilson's diseaseGenetic hemochromatosisHereditary liver diseasesHepatic injuryLiver injuryIron overloadATP7B genotypeA1-ATC282Y mutationClinical phenotypeDiseaseRegenerative capacityGenetic modifiersPatientsInjuryHemochromatosisHeterozygous genotypeModifier genesGenetic backgroundMutationsWide variationModifier effectSignificant variabilityLiver
2005
Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry.
Kowdley K, Brandhagen D, Gish R, Bass N, Weinstein J, Schilsky M, Fontana R, McCashland T, Cotler S, Bacon B, Keeffe E, Gordon F, Polissar N. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology 2005, 129: 494-503. PMID: 16083706, DOI: 10.1016/j.gastro.2005.05.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAnalysis of VarianceCause of DeathCohort StudiesConfidence IntervalsFemaleGenetic MarkersGenotypeHemochromatosisHistocompatibility Antigens Class IHumansIron OverloadLiver Function TestsLiver TransplantationMaleMiddle AgedMutationProbabilityPrognosisProportional Hazards ModelsRegistriesSensitivity and SpecificitySeverity of Illness IndexSurvival AnalysisConceptsHepatic iron overloadHepatic iron indexHepatic iron concentrationLiver transplantationIron overloadPosttransplantation survivalC282Y/H63D mutationsEnd-stage liver diseaseHFE gene testingHFE mutation statusLiver transplantation centerNon-HH patientsOrgan Sharing statusYear of transplantationWild-type patientsPostliver transplantationTransplant RegistryHazard ratioTransplantation centersUncontrolled studiesLiver diseasePoor outcomeUnited NetworkIron indicesEarly diagnosis
1998
Inherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1998, 14: 200-207. DOI: 10.1097/00001574-199805000-00004.Peer-Reviewed Original ResearchMetabolic disordersClinical disease expressionIron overloadResponsible geneGenetic hemochromatosisMetabolic diseasesWilson's diseaseDisease expressionIron metabolismDisordersDiseaseCopper metabolismStudy of disordersNumerous recent studiesRecent studiesMetabolismPathophysiologyMolecular basisHemochromatosisClinicians