Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

Increasing evidence suggests a strong interplay between autophagy and genomic stability.
Recently, several papers have demonstrated a molecular connection between the DNA …

Tregs require Foxp3 expression and induction of a specific DNA hypomethylation signature
during development, after which Tregs persist as a self-renewing population that regulates …

Ataxia-telangiectasia (AT) is caused by absence of the catalytic activity of ATM, a protein
kinase that plays a central role in the DNA damage response, many branches of cellular …

Cerebellar ataxias (CAs) comprise a group of rare, neurological disorders characterized by
extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar …

Breast cancer (BC) is one of the leading causes of cancer-related deaths in women. The
purpose of this study is to identify key molecular markers related to the diagnosis and …

Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune
system associated with life-threatening infections. Variations in SCID phenotypes, especially …

Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic
mutations in the Ataxia Telangiectasia Mutated (ATM) gene. The aim of this paper is to better …

Specific medications to combat cerebellar ataxias, a group of debilitating movement
disorders characterized by difficulty with walking, balance and coordination, are still lacking …

Ataxia Telangiectasia (AT) is a rare multisystemic neurodegenerative disease caused by
biallelic mutations in the ATM gene. Few clinical studies on AT disease have been …