{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:42:26Z","timestamp":1759333346194},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,6,14]],"date-time":"2004-06-14T00:00:00Z","timestamp":1087171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Cellular Biochemistry"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Conradi\u2013Hunermann syndrome (CDPX2) is X\u2010linked dominant disorder appeared with aberrant punctuate calcification. The skeletal cells derived from the marrow stroma are active in maintaining the skeletal formation. We obtained mesenchymal stem cells from a patient with CDPX2 and studied the formation of colony forming unit\u2010fibroblast (CFU\u2010F) in vitro in comparison cells obtained from normal donors. Cultured cells were studied morphologically and subjected to gene expression analysis. Marrow stromal cells (MSC)\u2010chondrodysplasia punctuate (CDP) cells from CDPX2 were identified by their mosaic morphology formed three phenotypically distinct types of CFU\u2010F colonies. One type consisted of normal fibroblasts with developed cell body and cellular processes; the second type contained pathological small cells without processes; and the third type comprised of mixed cells. We compared gene expression by the MSC\u2010CDP to cells from normal donors. Transcription factors analyzed proliferation potential were similar in both normal and mixed colonies of MSC\u2010CDP and similar to normal MSCs. The message expression for cytokines and extra cellular matrix (ECM) proteins revealed similar expression for biglycan, osteocalcin, and osteonectin, while IL\u20106, IL\u201011, and M\u2010CSF mRNA levels were significantly higher in normal cells than in MSC\u2010CDP. Mixed cells had elevated levels for IL\u20106 and M\u2010CSF mRNA, but expressed IL\u201011 at the normal range. The studied genes were expressed at lower levels by the pathological (MSC\u2010CDP) cells compared to normal ones. Hence, MSC\u2010CDP was demonstrated to display abnormal morphology and transcription of several investigated genes. This study further illuminates the basis of the mosaic pattern of mesenchymal cells derived from a patient affected with CDPX2, and their gene expression involvement. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jcb.20089","type":"journal-article","created":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T17:58:22Z","timestamp":1087322302000},"page":"112-119","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of mesenchymal cells derived from an chondrodysplasia punctuate patient and 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