RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

doi:10.1002/jbmr.559

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Article

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2012

Pangrazio Alessandra, Cassani Barbara, Guerrini Matteo M, Crockett Julie C, Marrella Veronica, Zammataro Luca, Strina Dario, Schulz Ansgar, Schlack Claire, Kornak Uwe, Mellis David J, Duthie Angela, Helfrich Miep H, Durandy Anne, Moshous Despina, Vellodi Ashok, Chiesa Robert, Veys Paul, Lo Iacono Nadia, Vezzoni Paolo, Fischer Alain, Villa Anna, Sobacchi Cristina

Abstract excerpt

Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. Most human AROs are classified as osteoclast rich, but recently two subsets of osteoclast-poor ARO have been recognized as caused by defects in either TNFSF11 or TNFRSF11A genes, coding the RANKL and RANK proteins, respectively. The RANKL/RANK axis drives osteoclast differentiation...

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PMID: 22271396
DOI: 10.1002/jbmr.559
PMCID: PMC3306792

Genes

TNFSF11

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