Diseases associated with defective responses to DNA damage.
Cold Spring Harb Perspect Biol
; 4(12)2012 Dec 01.
Article
en En
| MEDLINE
| ID: mdl-23209155
Within the last decade, multiple novel congenital human disorders have been described with genetic defects in known and/or novel components of several well-known DNA repair and damage response pathways. Examples include disorders of impaired nucleotide excision repair, DNA double-strand and single-strand break repair, as well as compromised DNA damage-induced signal transduction including phosphorylation and ubiquitination. These conditions further reinforce the importance of multiple genome stability pathways for health and development in humans. Furthermore, these conditions inform our knowledge of the biology of the mechanics of genome stability and in some cases provide potential routes to help exploit these pathways therapeutically. Here, I will review a selection of these exciting findings from the perspective of the disorders themselves, describing how they were identified, how genotype informs phenotype, and how these defects contribute to our growing understanding of genome stability pathways.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Neoplasias de la Mama
/
Inmunodeficiencia Combinada Grave
/
Trastornos por Deficiencias en la Reparación del ADN
/
Anemia de Fanconi
/
Reparación del ADN por Unión de Extremidades
/
Nefritis Intersticial
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
Cold Spring Harb Perspect Biol
Asunto de la revista:
BIOLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Reino Unido
Pais de publicación:
Estados Unidos