Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

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

• 10.1007/s10616-008-9165-9 (literal)

Alternative label

• Villa A; Pangrazio A; Caldana E; Guerrini M; Vezzoni P; Frattini A; Sobacchi C. (2008)
  Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.
  in Cytotechnology (Dordr.); Springer Science, New York (Stati Uniti d'America)
  (literal)

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

• Villa A; Pangrazio A; Caldana E; Guerrini M; Vezzoni P; Frattini A; Sobacchi C. (literal)

Pagina inizio

• 57 (literal)

Pagina fine

• 62 (literal)

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

• http://www.springer.com (literal)

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

• 58 (literal)

Rivista

• Cytotechnology (Rivista)

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

• 6 (literal)

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

• 1 (literal)

Note

• PubMed (literal)

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

• Istituto di Tecnologie Biomediche, CNR, via F.lli Cervi 93, 20090, Segrate, Italy (literal)

Titolo

• Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (literal)

Abstract

• Hematopoietic stem cell transplantation (HSCT) is often the only practical approach to fatal genetic defects. One of the first pathologies which HSCT was applied to was Autosomal Recessive Osteopetrosis (ARO), a rare genetic bone disease in which a deficit in bone resorption by osteoclasts leads to increased bone density and secondary defects. The disease is often lethal early in life unless treated with HSCT. In utero transplantation (IUT) of the oc/oc mouse, reproducing the clinical features of a subset of ARO, has demonstrated that the quality of life and the survival of transplanted animals are greatly improved, suggesting that a similar protocol could be applied to humans. However, recently the dissection of the molecular bases of the disease has shown that ARO is genetically heterogeneous and has revealed the presence of subsets of patients which do not benefit from HSCT. This observation highlights the importance of molecular diagnosing ARO to identify and establish the proper therapies for a better prognosis. In particular, on the basis of experimental results in murine models, efforts should be undertaken to develop approaches such as IUT and new pharmacological strategies. (literal)

Editore

• Springer Science (Editore)

Autore CNR

• MARIAELENA CALDANA (Persona)
• Alessandra Pangrazio (Unità di personale esterno)
• CRISTINA SOBACCHI (Unità di personale interno)
• PAOLO MARIA VEZZONI (Unità di personale interno)
• MATTEO MAURIZIO GUERRINI (Unità di personale esterno)
• ANNALISA FRATTINI (Persona)
• ANNA VILLA (Unità di personale interno)

Insieme di parole chiave

• Keywords of "Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation." (Insieme di parole chiave)

Incoming links:

Autore CNR di

• ANNA VILLA (Unità di personale interno)
• ANNALISA FRATTINI (Persona)
• CRISTINA SOBACCHI (Unità di personale interno)
• PAOLO MARIA VEZZONI (Unità di personale interno)
• Alessandra Pangrazio (Unità di personale esterno)
• MATTEO MAURIZIO GUERRINI (Unità di personale esterno)
• MARIAELENA CALDANA (Persona)

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

• Cytotechnology (Rivista)

Editore di

• Springer Science (Editore)

Insieme di parole chiave di

• Keywords of "Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation." (Insieme di parole chiave)