http://www.cnr.it/ontology/cnr/individuo/prodotto/ID55894

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Articolo in rivista)

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Articolo in rivista) (literal)

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Sobacchi C; Frattini A; Guerrini MM; Abinun M; Pangrazio A; Susani L; Bredius R; Mancini G; Cant A; Bishop N; Grabowski P; Del Fattore A; Messina C; Errigo G; Coxon FP; Scott DI; Teti A; Rogers MJ; Vezzoni P; Villa A; Helfrich MH. (2007)
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
in Nature genetics (Print); Nature Publishing Group, New York (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Sobacchi C; Frattini A; Guerrini MM; Abinun M; Pangrazio A; Susani L; Bredius R; Mancini G; Cant A; Bishop N; Grabowski P; Del Fattore A; Messina C; Errigo G; Coxon FP; Scott DI; Teti A; Rogers MJ; Vezzoni P; Villa A; Helfrich MH. (literal)

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Institute of Biomedical Technologies, Consiglio Nazionale delle Ricerche, via F. Cervi 93, 20090 Segrate, Italy. Istituto Clinico Humanitas, 20089 Rozzano, Italy. Children's Bone Marrow Transplant Unit, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE, UK, and Institute for Cellular Medicine, Faculty of Medicine, Newcastle upon Tyne NE4 6BE, UK. Department of Pediatrics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands. Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands. Academic Unit of Child Health, University of Sheffield, Sheffield S10 2TH, UK. Department of Experimental Medicine, University of L'Aquila, 67100 L'Aquila, Italy. Pediatric Hematology and Oncology Unit, University of Padova, 35122 Padova, Italy. Bone & Musculoskeletal Programme, University of Aberdeen, Aberdeen AB25 2ZD, UK. Universita` Vita e Salute San Raffaele, Telethon Institute for Gene Therapy, 20090 Milan, Italy. Correspondence should be addressed to A.F. (annalisa.frattini@itb.cnr.i (literal)

Titolo

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (literal)

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 (literal)

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