Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways. [PDF]
, 2002 Illudin S is a natural sesquiterpene drug with strong anti-tumour activity. Inside cells, unstable active metabolites of illudin cause the formation of as yet poorly characterised DNA lesions.
Hoeijmakers, J.H.J. (Jan) +7 more
core +1 more source
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes
Annals of Human Genetics, EarlyView.ABSTRACT Pharmacogenomics, the use of germline genomic data to guide prescription to improve effective and safer medication, holds promise as a clinical intervention. To date in most health systems, there has been limited uptake of pharmacogenomic testing confined to a few single drug–gene associations.
John Henry McDermott +3 more
wiley +1 more source
Transcription‐coupled repair: tangled up in convoluted repair
The FEBS Journal, EarlyView.In this review, we discuss recent findings derived from diverse genomic, biochemical and structural, imaging, and functional studies (B–E) that culminated in deep mechanistic insight (A) into the vital cellular process of transcription‐coupled nucleotide excision repair (TC‐NER).
Diana A. Llerena Schiffmacher +3 more
wiley +1 more source
Traveling Rocky Roads: The Consequences of Transcription-Blocking DNA Lesions on RNA Polymerase II [PDF]
, 2016 The faithful transcription of eukaryotic genes by RNA polymerase II (RNAP2) is crucial for proper cell function and tissue homeostasis. However, transcription-blocking DNA lesions of both endogenous and environmental origin continuously challenge the ...
Marteijn, Jurgen A., Steurer, Barbara
core +2 more sources
Genomic stress in diseases stemming from defects in the second brain
Neurogastroenterology &Motility, EarlyView.The enteric nervous system, a.k.a., second brain, is subject to a range of genotoxic exposures that include intrinsic oxidative stress and extrinsic agents associated with ingested foods, inflammation, and dysbiosis. Resulting DNA damage, if left unrepaired, can induce cell dysfunction or death, resulting in gut abnormalities and enteric neuropathy ...
Lobke Marie M. Mombeek +2 more
wiley +1 more source
ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice
Nature Communications, 2017 Cockayne syndrome group B protein (CSB) is a multifunctional chromatin remodeler involved in double-strand break repair. Here the authors investigate the molecular post-translational signals regulating CSB activity.
Nicole L. Batenburg +5 more
doaj +1 more source
Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome
Molecular Genetics & Genomic Medicine, 2020 Background Cockayne syndrome (CS) is a rare autosomal recessive disorder which displays multiorgan dysfunction, especially within the nervous system including psychomotor retardation, cerebral atrophy, microcephaly, cognitive dysfunction, mental ...
Shuiyan Wu +9 more
doaj +1 more source
From the Rarest to the Most Common: Insights from Progeroid Syndromes into Skin Cancer and Aging [PDF]
, 2009 Despite their rarity, diseases of premature aging, or “progeroid” syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging.
Capell, Brian C. +2 more
core +1 more source
Mitochondria‐Nuclear Crosstalk: Orchestrating mtDNA Maintenance
Environmental and Molecular Mutagenesis, Volume 66, Issue 5, Page 222-242, June 2025.ABSTRACT The mitochondria (mt) and nucleus engage in a dynamic bidirectional communication to maintain cellular homeostasis, regulating energy production, stress response, and cell fate. Anterograde signaling directs mt function, while retrograde signaling conveys metabolic and stress‐related changes from mt to the nucleus. Central to this crosstalk is
Ghazal Darfarin, Janice Pluth
wiley +1 more source
Cockayne's syndrome: case report [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1971 The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness.
G. C. Kanjilal, L. Crome
openaire +2 more sources