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 ResearchConceptsHereditary 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
2004
Integrative Analysis of the Mitochondrial Proteome in Yeast
Prokisch H, Scharfe C, Camp DG, Xiao W, David L, Andreoli C, Monroe ME, Moore RJ, Gritsenko MA, Kozany C, Hixson KK, Mottaz HM, Zischka H, Ueffing M, Herman ZS, Davis RW, Meitinger T, Oefner PJ, Smith RD, Steinmetz LM. Integrative Analysis of the Mitochondrial Proteome in Yeast. PLOS Biology 2004, 2: e160. PMID: 15208715, PMCID: PMC423137, DOI: 10.1371/journal.pbio.0020160.Peer-Reviewed Original ResearchConceptsMitochondrial proteomeGenomic approachesPhenotype screeningGenome-wide approachesSubcellular localization studiesComplex mitochondrial disordersDifferent genomic approachesProtein interaction analysisYeast mitochondriaMitochondrial proteinsMitochondrial organellesProteomic approachProteome studiesAbundant proteinsExpression analysisCandidate genesExpression profilingIntegrative analysisMitochondrial functionLocalization studiesOrganellesMitochondrial disordersProteinSystematic identificationMass spectrometry
2002
Systematic screen for human disease genes in yeast
Steinmetz LM, Scharfe C, Deutschbauer AM, Mokranjac D, Herman ZS, Jones T, Chu AM, Giaever G, Prokisch H, Oefner PJ, Davis RW. Systematic screen for human disease genes in yeast. Nature Genetics 2002, 31: 400-404. PMID: 12134146, DOI: 10.1038/ng929.Peer-Reviewed Original ResearchConceptsMitochondrial proteinsNuclear-encoded mitochondrial proteinsGenomic map positionFunctional genomic studiesHuman disease genesGene expression analysisHuman mitochondriaYeast deletionHuman orthologGenomic studiesMap positionHuman genesSystematic screenFunctional screenStrain fitnessExpression analysisDisease genesHuman disordersMitochondrial diseaseHigh similarityMitochondrial respirationHeritable diseaseMitochondrial functionGenesProtein