Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

ConclusionOur 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.

Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel ‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A Tags: CLINICAL REPORT Source Type: research