{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15"],"submitter":["Chen X"],"pubmed_abstract":["<h4>Objective</h4><i>CLCN7</i> mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, <i>CLCN7</i> mutations can lead to severe or relatively benign forms of osteopetrosis. However, the serum metabolic alterations in osteopetrosis caused by <i>CLCN7</i> mutation are still unknown. We aimed to investigate the differences in the metabolome of osteopetrosis patients caused by <i>CLCN7</i> mutation versus healthy controls (HC), uncovering potential subtype diagnosis biomarkers.<h4>Methods</h4>19 osteopetrosis patients caused by <i>CLCN7</i> mutation and 19 HC were recruited for liquid chromatography-tandem mass spectrometry analysis. The screened pathway was validated in the myeloid cell specific <i>Clcn7<sup>G763R</sup></i> mutant mouse model by q"],"journal":["Frontiers in endocrinology"],"pagination":["1418932"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11865745"],"repository":["biostudies-literature"],"pubmed_title":["Metabolomics study of osteopetrosis caused by &lt;i&gt;CLCN7&lt;/i&gt; mutation reveals novel pathway and potential biomarkers."],"pmcid":["PMC11865745"],"pubmed_authors":["Zhang Z","Wang C","Hu W","Fu W","Gu J","Chen X","Wei Z","Wang Z","Yu X"],"additional_accession":[]},"is_claimable":false,"name":"Metabolomics study of osteopetrosis caused by &lt;i&gt;CLCN7&lt;/i&gt; mutation reveals novel pathway and potential biomarkers.","description":"<h4>Objective</h4><i>CLCN7</i> mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, <i>CLCN7</i> mutations can lead to severe or relatively benign forms of osteopetrosis. However, the serum metabolic alterations in osteopetrosis caused by <i>CLCN7</i> mutation are still unknown. We aimed to investigate the differences in the metabolome of osteopetrosis patients caused by <i>CLCN7</i> mutation versus healthy controls (HC), uncovering potential subtype diagnosis biomarkers.<h4>Methods</h4>19 osteopetrosis patients caused by <i>CLCN7</i> mutation and 19 HC were recruited for liquid chromatography-tandem mass spectrometry analysis. The screened pathway was validated in the myeloid cell specific <i>Clcn7<sup>G763R</sup></i> mutant mouse model by q","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-04-08T19:45:19.543Z","creation":"2025-04-04T01:11:45.894Z"},"accession":"S-EPMC11865745","cross_references":{"pubmed":["40018371"],"doi":["10.3389/fendo.2024.1418932"]}}