A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
N Engl J Med
; 358(2): 162-8, 2008 Jan 10.
Article
em En
| MEDLINE
| ID: mdl-18184961
ABSTRACT
Hypoxia-inducible factor (HIF) alpha, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-alpha is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2alpha protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2alpha protein and suggest that wild-type HIF-2alpha regulates erythropoietin production in adults.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Policitemia
/
Eritropoetina
/
Mutação Puntual
/
Eritropoese
/
Fatores de Transcrição Hélice-Alça-Hélice Básicos
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
N Engl J Med
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Reino Unido