Molecular basis of telomere dysfunction in human genetic diseases.
Nat Struct Mol Biol
; 22(11): 867-74, 2015 11.
Article
em 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
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Telômero
/
Proteínas de Ligação a Telômeros
/
Homeostase do Telômero
/
Doenças Genéticas Inatas
Limite:
Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article