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Nat Genet ; 39(8): 960-2, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17632511

RESUMO

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.


Assuntos
Osteopetrose/genética , Ligante RANK/genética , Animais , Consanguinidade , Feminino , Genes Recessivos , Humanos , Masculino , Camundongos , Osteoclastos , Linhagem
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