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Primary ciliary dyskinesia without obvious electron microscopy defects

ABSTRACT: Primary ciliary dyskinesia without obvious electron microscopy defects

PROVIDER: PRJNA635176 | ENA |

REPOSITORIES: ENA

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Primary ciliary dyskinesia without obvious electron microscopy defects

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Genome-wide gene expression analysis in primary ciliary dyskinesia patients

Project description:We performed whole genome gene expression profiling in bronchial biopsies from PCD patients. We used the Quality Threshold clustering algorithm to identify groups of genes that revealed highly correlated RNA expression patterns in the biopsies. The largest cluster contained 372 genes and was significantly enriched for genes related to cilia. The database and literature search showed that 16250 genes in this cluster were known cilia genes, strongly indicating that the remaining 21022 genes were likely to be new cilia genes. The tissue expression pattern of the 210 new cilia genes and the 162 known genes was consistent with the presence of motile cilia in a given tissue. Analysis of the upstream promotor sequences revealed evidence for RFX transcription factors binding site motif in both subgroups. Total RNA obtained from 6 primary ciliary dyskinesia patients and 9 control individuals

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