2014
A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system
Schlecht U, Suresh S, Xu W, Aparicio AM, Chu A, Proctor MJ, Davis RW, Scharfe C, St Onge RP. A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system. BMC Genomics 2014, 15: 263. PMID: 24708151, PMCID: PMC4023593, DOI: 10.1186/1471-2164-15-263.Peer-Reviewed Original ResearchConceptsRespiratory growthFunctional screenCopper homeostasis genesHomozygous diploid deletionIntracellular copper concentrationList of genesComplex cellular systemsDeletion strainHomeostasis genesCopper homeostasisLow vacuolar pHDirect regulatorRespiratory defectsDifferent genesAerobic organismsIron uptakeFunctional linkMendelian disordersGenesCellular systemsGrowth mediumVacuolar pHHomeostasis resultsGenetic originHuman health
2009
Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes
Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes. PLOS Computational Biology 2009, 5: e1000374. PMID: 19390613, PMCID: PMC2668170, DOI: 10.1371/journal.pcbi.1000374.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingComputer SimulationDNA, MitochondrialGenetic Predisposition to DiseaseHumansMitochondrial DiseasesModels, GeneticQuantitative Trait LociConceptsMitochondrial disease genesDisease genesMitochondrial genesMost mitochondrial proteinsMitochondrial disease phenotypesGene network analysisDisease phenotypePhenotypic featuresGenotype-phenotype relationsNuclear genesHuman mitochondriaMitochondrial proteinsCharacteristic interaction patternsPhenotypic dataCandidate genesMitochondrial systemDifferent genesSimilar phenotypeGene associationsGenesFunctional interactionMitochondrial disordersClinical disease phenotypeSimilarity valuesPhenotype
2005
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21–q22 by RNA in situ hybridization in mouse
van der Zwaag B, Burbach JP, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, van Bokhoven H. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21–q22 by RNA in situ hybridization in mouse. Genomics 2005, 86: 55-67. PMID: 15953540, DOI: 10.1016/j.ygeno.2005.03.007.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChromosomes, Human, Pair 3Embryonic DevelopmentFacial ParalysisGene Expression ProfilingGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseHumansIn Situ HybridizationMiceRNAConceptsHereditary congenital facial paresisNew candidate genesMouse developmentCandidate genesSitu hybridizationTranscription-PCR analysisUndetectable expression levelsMouse embryogenesisPositional candidatesExpression analysisUbiquitous expressionGenesMeans of RNAExpression levelsGenetic defectsRNADisease familiesHybridizationCongenital cranial dysinnervation disordersExpressionFacial paresisCranial dysinnervation disordersEmbryogenesisChromosomesFamily
2003
A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy
Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. Journal Of Medical Genetics 2003, 40: 752. PMID: 14569122, PMCID: PMC1735288, DOI: 10.1136/jmg.40.10.752.Peer-Reviewed Original Research