Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.
Marília M MontenegroCaio R QuaioPatricia PalmeiraYanca GaspariniAndreia Rangel-SantosJulian DamascenoEstela M NovakThamires M GimenezGuilherme L YamamotoRachel S RonjoGil M Novo-FilhoSamar N ChehimiEvelin A ZanardoAlexandre T DiasAmom M NascimentoThais V M M CostaAlberto Jose da Silva DuarteLuiz Lehmann CoutinhoChong Ae KimLeslie Domenici KulikowskiPublished in: Molecular genetics & genomic medicine (2020)
Our results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA-seq.
Keyphrases
- rna seq
- gene expression
- single cell
- immune response
- genome wide
- dna methylation
- poor prognosis
- papillary thyroid
- signaling pathway
- oxidative stress
- endoplasmic reticulum stress
- squamous cell
- cell cycle arrest
- cell death
- high resolution
- case report
- pi k akt
- dendritic cells
- long non coding rna
- induced apoptosis
- epithelial mesenchymal transition
- toll like receptor
- inflammatory response
- genome wide identification
- case control