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Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients with Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression
This study sought to investigate the mechanism underlying heterozygous PTCH1 mutation‐mediated abnormal bone metabolism in patients with NBCCS. Stromal cells were isolated from the fibrous capsules of patients with NBCCS‐associated or non‐syndromic keratocystic odontogenic tumors and non‐syndromic tumor stromal cells without PTCH1 mutations served as controls. Germline PTCH1 heterozygous mutations were confirmed in all NBCCS samples and differential protein expression was identified using tandem mass tag‐labeled proteomics analysis. Our findings revealed that osteonectin/SPARC expression was significantly downreg...
Source: Journal of Bone and Mineral Research - February 17, 2016 Category: Orthopaedics Authors: Yingying Hong, Jianyun Zhang, Heyu Zhang, Xuefen Li, Jiafei Qu, Jiemei Zhai, Lei Zhang, Feng Chen, Tiejun Li Tags: Original Article Source Type: research