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Zhuang L.,Shanghai JiaoTong University | Bai M.,Xian Jiaotong University | Zhou W.,Maternity and Child Care Hospital | Yu Y.,Shanghai JiaoTong University | And 3 more authors.
Journal of Medical Biochemistry | Year: 2014

Background: This study aimed to investigate the significance of MAMLD1 mutations in the incidence of hypospadias in a Chinese population. Methods: The experimental group consisted of 150 domestic children with hypospadias, aged 0.5 to six years and living in different provinces. A total of 120 normal children, aged two to six years, served as the control group. DNA was extracted for the direct sequencing of MAMLD1 genes. Results: Twelve cases (8.0%) of the missense mutation p.N589S were found in the experimental group, whereas four cases (3.0%) of the same mutation were found in the control group. No significant difference was observed in the mutation rate between the two groups (P>0.05). Four cases (2.7%) had a new missense mutation p.P567S in the experimental group, and three cases (2.5%) possessed the same mutation in the control group. No significant difference was observed between the two groups (P>0.05). Conclusions: In this study, the importance of repeated experiments in mutation-related studies was confirmed, which revealed the difference in predisposing genes among different populations. Although the mutation of the MAMLD1 gene had no apparent connection with the incidence of hypospadias in a Chinese population, a new mutation site of the MAMLD1 gene was discovered, which could provide new research topics for future studies. Source


Zhang J.,Maternity and Child Care Hospital | Gao C.,Maternity and Child Care Hospital | Meng M.,Maternity and Child Care Hospital | Tang H.,Maternity and Child Care Hospital
Biomolecules and Therapeutics | Year: 2016

Acute myocardial infarction (AMI) remains a leading cause of morbidity and mortality worldwide. The exploration of new biomarkers with high sensitivity and specificity for early diagnosis of AMI therefore becomes one of the primary task. In the current study, we aim to detect whether there is any heart specific long noncoding RNA (lncRNA) releasing into the circulation during AMI, and explore its function in the neonatal rat cardiac myocytes injury induced by H2O2. Our results revealed that the cardiac-specific lncRNA MHRT (Myosin Heavy Chain Associated RNA Transcripts) was significantly elevated in the blood from AMI patients compared with the healthy control (*p<0.05). Using an in vitro neonatal rat cardiac myocytes injury model, we demonstrated that lncRNA MHRT was upregulated in the cardiac myocytes after treatment with hydrogen peroxide (H2O2) via real-time RT-PCR (qRT-PCR). Furthermore, we knockdowned the MHRT gene by siRNA to confirm its roles in the H2O2-induced cardiac cell apoptosis, and found that knockdown of MHRT led to significant more apoptotic cells than the non-target control (**p<0.01), indicating that the lncRNA MHRT is a protective factor for cardiomyocyte and the plasma concentration of MHRT may serve as a biomarker for myocardial infarction diagnosis in humans AMI. © 2016 The Korean Society of Applied Pharmacology. Source

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