Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Nat Genet
; 39(8): 960-2, 2007 Aug.
Article
en En
| MEDLINE
| ID: mdl-17632511
ABSTRACT
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor-KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not show any obvious defects in immunological parameters and could not be cured by hematopoietic stem cell transplantation; however, exogenous RANKL induced formation of functional osteoclasts from their monocytes, suggesting that they could, theoretically, benefit from exogenous RANKL administration.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteopetrosis
/
Ligando RANK
Límite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Italia