Ataxia telangiectasia: a review

C Rothblum-Oviatt, J Wright, MA Lefton-Greif… - Orphanet journal of rare …, 2016 - Springer
Definition of the disease Ataxia telangiectasia (AT) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency …

Roles of the NF-κB pathway in lymphocyte development and function

S Gerondakis, U Siebenlist - Cold Spring Harbor …, 2010 - cshperspectives.cshlp.org
This article focuses on the functions of NF-κB that vitally impact lymphocytes and thus
adaptive immunity. NF-κB has long been known to be essential for many of the responses of …

Neuronal enhancers are hotspots for DNA single-strand break repair

W Wu, SE Hill, WJ Nathan, J Paiano, E Callen, D Wang… - Nature, 2021 - nature.com
Defects in DNA repair frequently lead to neurodevelopmental and neurodegenerative
diseases, underscoring the particular importance of DNA repair in long-lived post-mitotic …

[HTML][HTML] ATM-dependent chromatin changes silence transcription in cis to DNA double-strand breaks

NM Shanbhag, IU Rafalska-Metcalf, C Balane-Bolivar… - Cell, 2010 - cell.com
DNA double-strand breaks (DSBs) initiate extensive local and global alterations in
chromatin structure, many of which depend on the ATM kinase. Histone H2A ubiquitylation …

[HTML][HTML] Spatial organization of the mouse genome and its role in recurrent chromosomal translocations

Y Zhang, RP McCord, YJ Ho, BR Lajoie… - Cell, 2012 - cell.com
The extent to which the three-dimensional organization of the genome contributes to
chromosomal translocations is an important question in cancer genomics. We generated a …

Noncoding RNA processing by DIS3 regulates chromosomal architecture and somatic hypermutation in B cells

B Laffleur, J Lim, W Zhang, Y Chen, E Pefanis… - Nature …, 2021 - nature.com
Noncoding RNAs are exquisitely titrated by the cellular RNA surveillance machinery for
regulating diverse biological processes. The RNA exosome, the predominant 3′ RNA …

At the intersection of DNA damage and immune responses

JJ Bednarski, BP Sleckman - Nature Reviews Immunology, 2019 - nature.com
DNA damage occurs on exposure to genotoxic agents and during physiological DNA
transactions. DNA double-strand breaks (DSBs) are particularly dangerous lesions that …

DNA damage‐dependent NF‐κB activation: NEMO turns nuclear signaling inside out

KW McCool, S Miyamoto - Immunological reviews, 2012 - Wiley Online Library
The dimeric transcription factor nuclear factor κB (NF‐κB) functions broadly in coordinating
cellular responses during inflammation and immune reactions, and its importance in the …

Function and molecular mechanism of the DNA damage response in immunity and cancer immunotherapy

Z Ye, Y Shi, SP Lees-Miller, JA Tainer - Frontiers in immunology, 2021 - frontiersin.org
The DNA damage response (DDR) is an organized network of multiple interwoven
components evolved to repair damaged DNA and maintain genome fidelity. Conceptually …

Caspase 3/caspase-activated DNase promote cell differentiation by inducing DNA strand breaks

BD Larsen, S Rampalli, LE Burns… - Proceedings of the …, 2010 - National Acad Sciences
Caspase 3 is required for the differentiation of a wide variety of cell types, yet it remains
unclear how this apoptotic protein could promote such a cell-fate decision. Caspase signals …