Article
[Ocular manifestations in hereditary diseases with defects in DNA repair].
Klinika oczna - 1 Jan 2014
Woźniak Katarzyna, Kuc Dorota, Błasiak Janusz, Kurowska Anna K, Szaflik Jerzy, Szaflik Jacek P
Abstract excerpt
DNA repair is involved in maintaining the stability of the genome and accurate sending of genetic information. DNA repair pathways remove many DNA damages induced by endo- and exogenous factors. There are several DNA repair pathways in human cells, including base or nucleotide excision system, homologous recombination system and non-homologous end joining. Mutation in DNA repair genes may results in rare genetic...
Topics
- Cockayne Syndrome
- DNA Damage
- DNA Repair-Deficiency Disorders
- Eye Diseases, Hereditary
- Hair Diseases
- Humans
- Ichthyosis
- Mental Disorders
- Phenotype
- Xeroderma Pigmentosum