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Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising various phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB. In the present study, six cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis. The family history of each case was surveyed. Whole exome sequencing was performed to identify the causative variation. The six patients showed typical EB symptoms. In all cases, WES detected the diagnostic variations of the COL7A1 or DST gene. A total of 10 variants were identified and verified. The findings of the present study further expanded the mutation spectrum of IEB, provided evidence for genetic counseling to the affected families, as well as highlighted the complexity of the pathogenesis of IEB. [ABSTRACT FROM AUTHOR]

Sphingosine-1-phosphate and its structural analog FTY720 (fingolimod) are important in the inhibition of osteoclast differentiation and bone resorption, however, it remains unknown whether they enhance osteogenic differentiation of the bone marrow mesenchymal stem cells (BM-MSCs). The present study investigated the effect of FTY720 on the osteogenic differentiation of BM-MSCs from the femurs of the ovariectomized (OVX) rats. Three different concentrations (1, 10 and 100 nM) of FTY720 were demonstrated to markedly upregulate mRNA expression levels of Runt-related transcription factor 2 (Runx2) and Sp7 transcription factor (Sp7) at 2 weeks, and alkaline phosphatase (ALP) at 3 weeks. The osteocalcin (OCN) expression was similar at weeks 2 and 3. The protein expression levels of Runx2, Sp7, OCN and ALP induced by three different concentrations of FTY720 were higher than those in the control groups at 3 weeks in the OVX and sham groups. The findings of the current study suggested a beneficial effect of FTY720 on bone formation in OVX rats, and provided a potential therapeutic method of FTY720 to prevent alveolar bone resorption in patients with post-menopausal osteoporosis. [ABSTRACT FROM AUTHOR]

Upregulated expression of the CXC chemokine receptor type 7 (CXCR7) promotes breast, lung and prostate cancer progression and metastasis. However, the role of CXCR7 in colon cancer has not been determined. We hypothesized that increased CXCR7 expression may contribute to human colon cancer occurrence and progression. Reverse transcription quantitative polymerase chain reaction and western blot analysis were performed on 34 malignant and 18 normal colon tissue specimens. The specimens were obtained from 19 male and 15 female patients, with a mean age of 52 years (range, 34-79 years). Of the 34 patients, 20 had lymph node metastases. None of the patients had received adjuvant radiotherapy or chemotherapy prior to surgery. This study demonstrated that CXCR7 levels were significantly higher in colon tumors compared with those in normal colon tissue (P﹤0.01). In addition, lymph node metastatic colon tumors exhibited significantly higher CXCR7 expression compared with non-metastatic tumors (P﹤0.01); however, there were no differences in CXCR7 expression among distinct histopathological types (well-differentiated vs. moderately-to-poorly differentiated adenocarcinoma, P﹥0.01). Therefore, the evidence obtained from the present study supports involvement of the upregulated CXCR7 expression in colon tumorigenesis and lymph node metastasis.