Article
Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.
Laboratory investigation; a journal of technical methods and pathology - 1 Mar 2014
Coudert Amélie E, Del Fattore Andrea, Baulard Céline, Olaso Robert, Schiltz Corinne, Collet Corinne, Teti Anna, de Vernejoul Marie-Christine
Abstract excerpt
Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity. Mutations in the CLCN7 gene have been reported to cause ADO II. To gain novel insights into the pathways dysregulated in ADOII osteoclasts, we identified changes in gene expression in osteoclasts from patients with a heterozygous mutation of CLCN7. To do...
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