Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging

@article{Cleaver2008ClinicalIO,
  title={Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging},
  author={James E. Cleaver and Ingrid Revet},
  journal={Mechanisms of Ageing and Development},
  year={2008},
  volume={129},
  pages={492-497}
}
Tumour predisposition and cancer syndromes as models to study gene–environment interactions
TLDR
Tumour predisposition syndromes in which cancers arise at an accelerated rate and in different organs provide a unique opportunity to examine how gene–environment interactions influence cancer risk when the initiating genetic defect responsible for malignancy is known.
Current and emerging roles of Cockayne syndrome group B (CSB) protein.
TLDR
This review focuses on the diverse roles played by CSB in cellular pathways that enhance genome stability, providing insight into the molecular features of this complex premature aging disease.
Disorders of nucleotide excision repair.
  • I. Rapin
  • Medicine, Biology
    Handbook of clinical neurology
  • 2013
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
TLDR
The mapping of mutations in recently solved protein structures has begun to clarify the links between the molecular defects and phenotypes, but the identification of additional sources of clinical variability is still necessary.
Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress
TLDR
The results show that XPC deficiency leads to alterations in mitochondrial redox balance with a CI/CII shift as a possible adaptation to lower CI activity, but at the cost of sensitizing XP-C cells to mitochondrial oxidative stress.
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts
TLDR
The results are of particular importance for the physicians to help in early prevention and detection of internal tumors in their XP patients because the age of XP population is increasing due to better sun-protection and knowledge of the disease.
Markers of Aging in Cells of Patients with Cockayne Syndrome. General and Individual Differences
TLDR
It was shown that the cells of patients with Cockayne syndrome have pronounced signs of accelerated aging in all studied markers, which allowscockayne syndrome to be a true progeria and cell lines obtained from patients as model objects for studying the processes of aging and testing geroprotectors.
Haploinsufficiency in mouse models of DNA repair deficiency: modifiers of penetrance
TLDR
A comprehensive analysis of all DNA repair mutant mouse models has been completed in order to assess the importance of haploinsufficiency for these genes, bringing to light a clear role for haplo insufficiency in disease predisposition.
Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous Diseases.
  • J. Cleaver
  • Medicine, Biology
    Current medical literature. Dermatology
  • 2008
TLDR
The relative incidence of the various forms of skin cancers in XP patients is similar to that in the general population, and UVB (280–320 nm) is the shorter wavelength radiation in sunlight that is responsible for most sun-induced cancers in thegeneral population, as well as inXP patients.
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