TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
Cell
; 104(4): 619-29, 2001 Feb 23.
Article
em En
| MEDLINE
| ID: mdl-11239417
ABSTRACT
Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5-3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11. These mice exhibit significant perinatal lethality and have conotruncal and parathyroid defects. The conotruncal defects can be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas com Domínio T
/
Síndrome de DiGeorge
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Cell
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Estados Unidos