The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …

The faithful maintenance of chromosome continuity in human cells during DNA replication
and repair is critical for preventing the conversion of normal diploid cells to an oncogenic …

Context: Medullary thyroid cancer (MTC) is a rare thyroid cancer that can occur sporadically
or as part of a hereditary syndrome. Objective: To explore the genetic origin of MTC, we …

DNA damage response (DDR) relies on swift and accurate signaling to rapidly identify DNA
lesions and initiate repair. A critical DDR signaling and regulatory molecule is the …

Upon the occurrence of DNA double strand breaks (DSB), the proximal histone variant H2A.
X is phosphorylated as γ-H2A. X, a critical signal for consequent DSB signaling and repair …

Induction of DNA damage triggers rapid phosphorylation of the histone H2A. X (γH2A. X). In
animals, mediator of DNA damage checkpoint 1 (MDC1) binds γH2A. X through a tandem …

Modulation of chromatin templates in response to cellular cues, including DNA damage,
relies heavily on the post-translation modification of histones. Numerous types of histone …

Histone demethylation is known to regulate transcription, but its role in other processes is
largely unknown. We report a role for the histone demethylase LSD1/KDM1A in the DNA …

Abstract Background Neuroendocrine neoplasms (NENs) represent a heterogeneous class
of rare tumors with increasing incidence. They are characterized by the ability to secrete …

Abstract Common Variable Immunodeficiency Disorders (CVIDs) are the most prevalent
cause of primary antibody failure. CVIDs are highly variable and a genetic causes have …