Molecular aspects of Down syndrome.
Indian Pediatr
;
2005 Apr; 42(4): 339-44
Artículo
en Inglés
| IMSEAR
| ID: sea-7737
ABSTRACT
Molecular aspects of Down syndrome (DS), a major genetic cause for mental retardation, commonly associated with trisomy 21 are discussed. Two different hypotheses have been speculated to better understand the disease. One believes that increased gene dosage contributes to the phenotypic abnormalities; the other correlates genetic imbalance with DS pathogenesis. To sustain these hypotheses, different murine models have been developed. Experimental models as well as sequencing of human chromosome 21 helped in speculating a few possible candidate genes for DS. However, the phenotypic changes involved with this neurological disorder vis-a-vis the enhanced number of genes, still remain unexplained. Improvement in screening pattern, model system, as well as better understanding of the disease etiology may help in developing efficacious therapeutic regimes for DS.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Trisomía
/
Humanos
/
Ratones Transgénicos
/
Síndrome de Down
/
Modelos Animales de Enfermedad
/
Animales
/
Ratones
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2005
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS