Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation

Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation

Abstract Background Cherubism is a rare autosomal dominant disorder of the jaws caused by mutation of the SH3BP2 gene. The bone is replaced by a fibrous granuloma containing multinucleated giant cells. Cells of the cherubism granuloma have never been systematically analyzed. Hence, the aim of this s...

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Bibliographic Details
Main Authors: Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L’Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E. Coudert
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cherubism
RANKL
TNF-α
Osteoclast
NFATc1
Auto-inflammatory bone disease
Online Access:http://link.springer.com/article/10.1186/s13023-018-0907-2

Internet

http://link.springer.com/article/10.1186/s13023-018-0907-2

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