http://www.cnr.it/ontology/cnr/individuo/prodotto/ID56024
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista)
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- Label
- Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista) (literal)
- Anno
- 2008-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1016/j.ajhg.2008.06.015 (literal)
- Alternative label
Guerrini MM; Sobacchi C; Cassani B; Abinun M; Kilic SS; Pangrazio A; Moratto D; Mazzolari E; Clayton-Smith J; Orchard P; Coxon FP; Helfrich MH; Crockett JC; Mellis D; Vellodi A; Tezcan I; Notarangelo LD; Rogers MJ; Vezzoni P; Villa A; Frattini A. (2008)
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
in American journal of human genetics; Nature Publishing Group, New York (Stati Uniti d'America)
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- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Guerrini MM; Sobacchi C; Cassani B; Abinun M; Kilic SS; Pangrazio A; Moratto D; Mazzolari E; Clayton-Smith J; Orchard P; Coxon FP; Helfrich MH; Crockett JC; Mellis D; Vellodi A; Tezcan I; Notarangelo LD; Rogers MJ; Vezzoni P; Villa A; Frattini A. (literal)
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- ISI Web of Science (WOS) (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate 20090, Italy;
Istituto Clinico Humanitas IRCCS, Rozzano 20089, Italy;
Children's BMT Unit, Newcastle General Hospital and Newcastle University, Newcastle upon Tyne NE4 6BE, UK;
Department of Pediatric Immunology, Faculty of Medicine, Uludag University, Bursa 16200, Turkey;
Centro di Trapianto di Midollo Osseo e Istituto di Medicina Molecolare ''Angelo Nocivelli,'' Clinica Pediatrica, Universita ` di Brescia, Brescia 25100, Italy;
Department of Clinical Genetics, St.Mary's Hospital,Manchester,M13 9WL, UK;
Programin Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA;
Bone & Musculoskeletal Programme, School of Medicine and Dentistry, Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK;
Great Ormond Street, Children's Hospital NHS Trust, London WC1N 3JH, UK;
Hacettepe University, Children's Hospital, Pediatric Immunology Unit, Ankara 06100, Turkey;
Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA;
San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Milan 20132, Ital (literal)
- Titolo
- Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (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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