Molecular basis of telomere dysfunction in human genetic diseases.
Nat Struct Mol Biol
; 22(11): 867-74, 2015 11.
Article
en En
| MEDLINE
| ID: mdl-26581521
ABSTRACT
Mutations in genes encoding proteins required for telomere structure, replication, repair and length maintenance are associated with several debilitating human genetic disorders. These complex telomere biology disorders (TBDs) give rise to critically short telomeres that affect the homeostasis of multiple organs. Furthermore, genome instability is often a hallmark of telomere syndromes, which are associated with increased cancer risk. Here, we summarize the molecular causes and cellular consequences of disease-causing mutations associated with telomere dysfunction.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Telómero
/
Proteínas de Unión a Telómeros
/
Homeostasis del Telómero
/
Enfermedades Genéticas Congénitas
Límite:
Humans
Idioma:
En
Revista:
Nat Struct Mol Biol
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2015
Tipo del documento:
Article
País de afiliación:
Reino Unido