ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.

Michele MenottaSara BiagiottiChiara SpapperiSara OraziLuigia RossiLuciana ChessaVincenzo LeuzziDaniela D'AgnanoAnnarosa SoresinaRoberto MicheliMauro Magnani

Published in: Orphanet journal of rare diseases (2017)

For the first time, the expression of ATM splicing variants, similar to those previously observed in vitro, has been found in the PBMCs of patients treated with EryDex. These findings show a correlation between the expression of ATMdexa1 transcripts and the clinical response to low dose dexamethasone administration.

Keyphrases

low dose
high dose
poor prognosis
dna damage
copy number
dna repair
dna damage response
binding protein
long non coding rna
gene expression
dna methylation
combination therapy
genome wide
smoking cessation