{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T18:27:21Z","timestamp":1767205641457,"version":"build-2238731810"},"reference-count":48,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T00:00:00Z","timestamp":1605484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>\n                    Autosomal dominant osteopetrosis type II (ADO II), characterized by increased bone mass and density, is caused by mutations in the chloride channel 7 (\n                    <jats:italic>CLCN7<\/jats:italic>\n                    ) gene. In this study, a novel missense variant in\n                    <jats:italic>CLCN7<\/jats:italic>\n                    (c.1678A &amp;gt; G; p.Met560Val) was identified in three symptomatic subjects and one carrier of a Chinese family with ADO II. Notably, bone formation markers, including osteocalcin and total procollagen type N-terminal propeptide, have increased or presented at the upper limit of the normal range in the three patients. Serum factors secreted by osteoclast lineage cells and affecting the CD31\n                    <jats:sup>hi<\/jats:sup>\n                    EMCN\n                    <jats:sup>hi<\/jats:sup>\n                    vessel formation, such as tartrate-resistant acid phosphatase 5b, platelet-derived growth factor-BB, vascular endothelial growth factor, and SLIT3, had a higher expression in three ADO II subjects than in 15 healthy age-matched and sex-matched controls. Moreover, the conditioned medium was obtained from preosteoclast induced from the ADO II patients\u2019 peripheral blood mononuclear cells. It was found to promote the CD31\n                    <jats:sup>hi<\/jats:sup>\n                    EMCN\n                    <jats:sup>hi<\/jats:sup>\n                    vessel formation of human microvascular endothelial cells and osteogenic differentiation of bone marrow-derived stem cells. Taken together, our finding revealed a novel\n                    <jats:italic>CLCN7<\/jats:italic>\n                    variant associated with ADO II and suggested that the sclerotic bone was potentially associated with the increase of the CD31\n                    <jats:sup>hi<\/jats:sup>\n                    EMCN\n                    <jats:sup>hi<\/jats:sup>\n                    vessel formation and bone formation.\n                  <\/jats:p>","DOI":"10.3389\/fcell.2020.599826","type":"journal-article","created":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T02:44:46Z","timestamp":1605494686000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis"],"prefix":"10.3389","volume":"8","author":[{"given":"Hui","family":"Peng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Bo","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Wen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,11,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1084\/jem.20172139","article-title":"Modeling the human bone marrow niche in mice: from host bone marrow engraftment to bioengineering approaches.","volume":"215","author":"Abarrategi","year":"2018","journal-title":"J. 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