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
2010
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2010, 1688-1693. DOI: 10.1093/med/9780199204854.003.120702.Peer-Reviewed Original Research
1998
ATP7B (WND) protein
Terada K, Schilsky M, Miura N, Sugiyama T. ATP7B (WND) protein. The International Journal Of Biochemistry & Cell Biology 1998, 30: 1063-1067. PMID: 9785470, DOI: 10.1016/s1357-2725(98)00073-9.Peer-Reviewed Original ResearchConceptsATP7B proteinP-type ATPaseCopper transporterDisease-specific mutationsIntracellular traffickingKb transcriptSpecific mutationsProteinATP7BGenesGenetic disordersRecombinant adenovirusExcessive accumulationCopper metabolismRecent studiesWilson's diseaseExonsGene deliveryTraffickingKbTranscriptsTransportersMutationsATPaseGenetic Hemochromatosis
Schilsky M, Sternlieb I. Genetic Hemochromatosis. Current Clinical Practice 1998, 241-247. DOI: 10.1007/978-1-4612-1808-1_18.Peer-Reviewed Original Research