Effects of endothelin B receptor agonist on biological behaviors of cementoblats of mice / 吉林大学学报(医学版)

Objetive: To investigate the effects of endothelin B receptor (E T B R) agonist on the biological behaviors of cementoblast cell line OCCM-30 of the mice, and to provide the experimental basis for odontogenic root restoration. Methods: The cementoblasts of the mice in logarithmic growth phase were selected and divided into experiment group and control group. The cells in experiment group were treated with ETBR agonist at a concentration of 10 -4 mol • L -1, and the cells in control group did not receive any treatment. MTT method was used to detect the inhibitory rates of proliferation of the cementoblasts in two groups at different time points 24, 48, and 72 h). Flow cytometry was used to detect the apoptotic rates of cells in two groups different time points (24, 48, and 72 h); alkaline phosphatase staining and alizarin red staining were performed to detect the cell differentiation and mineralization; real-time PCR was used to determine the expression levels of differentiation-related or mineralization-related genes such as Runx2, BSP, OCN, Coll, and Osterix. Results: MTT assay showed that compared with control group, the inhibitory rates of proliferation of the cells in experimental group were significantly increased after cultured for 24, 48 and 72 h (P

The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.

Analysis of EDNRB gene in Hirschsprung′s disease / 中国普通外科杂志

Objective To investigate the mutation of endothelin-B receptor(EDNRB) gene in sporadic Hirschsprung′s disease in Chinese population, to study the relationship between EDNRB gene and the pathogenesis of HD. Methods Genomic DNA was extracted from HD bowel tissues removed by surgery in 34 sporadic HD patients. Exon 3, 4, 6 of EDNRB gene of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP). Results EDNRB mutations were detected in 2 of the 13 short-segment HDs,one′s mutant was in the exon 3, the another was in the exon 6. No mutations were detected in the ordinary or long-segment HD. Conclusions The mutations of EDNRB gene were detected in the short-segment HD of sporadic HD in Chinese population. The results suggest that the EDNRB gene plays an important role in the pathogenesis of HD.