CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.

doi:10.1002/jbmr.2100

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Article

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2014

Barvencik Florian, Kurth Ingo, Koehne Till, Stauber Tobias, Zustin Jozef, Tsiakas Konstantinos, Ludwig Carmen F, Beil F Timo, Pestka Jan M, Hahn Michael, Santer Rene, Supanchart Chayarop, Kornak Uwe, Del Fattore Andrea, Jentsch Thomas J, Teti Anna, Schulz Ansgar, Schinke Thorsten, Amling Michael

Abstract excerpt

Osteopetrosis is an inherited disorder of impaired bone resorption, with the most commonly affected genes being CLCN7 and TCIRG1, encoding the Cl(-) /H(+) exchanger CLC-7 and the a3 subunit of the vacuolar H(+) -ATPase, respectively. We and others have previously shown that the disease is frequently accompanied by osteomalacia, and that this additional pathology is also found in Tcirg1-deficient oc/oc mice. The...

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Identifiers

PMID: 24108692
DOI: 10.1002/jbmr.2100

Genes

CLCN7
TCIRG1
CLC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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