Search results for " Fanconi anaemia"

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Bone marrow cell transcripts from Fanconi anaemia patients revealin vivoalterations in mitochondrial, redox and DNA repair pathways

2013

Fanconi anaemia (FA) is a genetic cancer predisposition disorder associated with cytogenetic instability, bone marrow failure and a pleiotropic cellular phenotype, including low thresholds of responses to oxidative stress, cross-linking agents and selected cytokines. This study was aimed at defining the scope of abnormalities in gene expression using the publicly available FA Transcriptome Consortium (FTC) database (Gene Expression Omnibus, 2009 and publicly available as GSE16334). We evaluated the data set that included transcriptomal analyses on RNA obtained from low-density bone marrow cells (BMC) from 20 patients with FA and 11 healthy volunteers, by seeking to identify changes in expre…

MaleDNA Repairiron-chelating proteinsTranscriptome0302 clinical medicineFanconi anemiaGene expressioncytokineoxidative stressChildbioenergetic pathwayRegulation of gene expression0303 health sciencesHematologyGeneral Medicineheat-shock proteinMitochondria3. Good health030220 oncology & carcinogenesisFemaleFanconi anaemiaOxidation-ReductionSignal TransductionAdultiron-chelating proteinDNA repairDNA repairBone Marrow CellsBiologyProinflammatory cytokine03 medical and health sciencesmedicineHumanstranscriptsGene030304 developmental biologyoxidative streGene Expression Profilingheat-shock proteinsMolecular Sequence Annotationmedicine.diseaseMolecular biologycytokinesDNA repair Fanconi anaemia bioenergetic pathways cytokines heat-shock proteins iron-chelating proteins oxidative stress transcriptsGene expression profilingOxidative StressFanconi AnemiaCase-Control Studiesbioenergetic pathwaysTranscriptomeEuropean Journal of Haematology
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