The DNA damage response to transcription stress

H Lans, JHJ Hoeijmakers, W Vermeulen… - … reviews Molecular cell …, 2019 - nature.com
The spatiotemporal control of RNA polymerase II (Pol II)-mediated gene transcription is
tightly and intricately regulated. In addition, preservation of the integrity of the DNA template …

Understanding nucleotide excision repair and its roles in cancer and ageing

JA Marteijn, H Lans, W Vermeulen… - … reviews Molecular cell …, 2014 - nature.com
Nucleotide excision repair (NER) eliminates various structurally unrelated DNA lesions by a
multiwise'cut and patch'-type reaction. The global genome NER (GG-NER) subpathway …

DNA damage responses and p53 in the aging process

HL Ou, B Schumacher - Blood, The Journal of the American …, 2018 - ashpublications.org
The genome is constantly attacked by genotoxic insults. DNA damage has long been
established as a cause of cancer development through its mutagenic consequences …

DNA repair mechanisms in dividing and non-dividing cells

T Iyama, DM Wilson III - DNA repair, 2013 - Elsevier
DNA damage created by endogenous or exogenous genotoxic agents can exist in multiple
forms, and if allowed to persist, can promote genome instability and directly lead to various …

DNA damage and associated DNA repair defects in disease and premature aging

V Tiwari, DM Wilson - The American Journal of Human Genetics, 2019 - cell.com
Genetic information is constantly being attacked by intrinsic and extrinsic damaging agents,
such as reactive oxygen species, atmospheric radiation, environmental chemicals, and …

[HTML][HTML] Shining a light on xeroderma pigmentosum

JJ DiGiovanna, KH Kraemer - Journal of investigative dermatology, 2012 - Elsevier
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair
characterized by sun sensitivity and UV radiation–induced skin and mucous membrane …

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009

V Oji, G Tadini, M Akiyama, CB Bardon… - Journal of the American …, 2010 - Elsevier
BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically
heterogeneous group of mendelian disorders of cornification, typically involving the entire …

γH2AX and cancer

WM Bonner, CE Redon, JS Dickey… - Nature Reviews …, 2008 - nature.com
Histone H2AX phosphorylation on a serine four residues from the carboxyl terminus
(producing γH2AX) is a sensitive marker for DNA double-strand breaks (DSBs). DSBs may …

Common genetic variation influencing human white matter microstructure

B Zhao, T Li, Y Yang, X Wang, T Luo, Y Shan, Z Zhu… - Science, 2021 - science.org
INTRODUCTION White matter in the human brain serves a critical role in organizing
distributed neural networks. Diffusion magnetic resonance imaging (dMRI) has enabled the …

Cockayne syndrome: Clinical features, model systems and pathways

AC Karikkineth, M Scheibye-Knudsen, E Fivenson… - Ageing research …, 2017 - Elsevier
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features
including cachectic dwarfism, severe neurological manifestations including microcephaly …