Institution
Fifth Affiliated Hospital of Xinjiang Medical University
Healthcare•Ürümqi, China•
About: Fifth Affiliated Hospital of Xinjiang Medical University is a healthcare organization based out in Ürümqi, China. It is known for research contribution in the topics: Apoptosis & Population. The organization has 241 authors who have published 139 publications receiving 1190 citations.
Topics: Apoptosis, Population, Oxidative stress, Inflammation, Viability assay
Papers
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TL;DR: A Chinese NSCL/P family is recruited and the candidate causative variants in this pedigree are explored to explore the pathogenic gene alleles and their role in birth defect etiology.
Abstract: BACKGROUND Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect. Its etiology is complex and it has a lifelong influence on affected individuals. Despite many studies, the pathogenic gene alleles are not completely clear. Here, we recruited a Chinese NSCL/P family and explored the candidate causative variants in this pedigree. METHODS We performed whole-exome sequencing on two patients and two unaffected subjects of this family. Variants were screened based on bioinformatics analysis to identify the potential etiological alleles. Species conservation analysis, mutation function prediction, and homology protein modeling were also performed to preliminarily evaluate the influence of the mutations. RESULTS We identified three rare mutations that are located on a single chromatid (c.2684C > T_p.Ala895Val, c.4350G > T_p.Gln1450His, and c.4622C > A_p.Ser1541Tyr) in GLI2 as candidate causative variants. All of these three mutations were predicted to be deleterious, and they affect amino acids that are conserved in many species. The mutation c.2684C > T was predicted to affect the structure of the GLI2 protein. CONCLUSION Our results further demonstrate that GLI2 variants play a role in the pathogenesis of NSCL/P, and the three rare missense mutations combined are probably the potential disease-causing variants in this family.
8 citations
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TL;DR: ROS up-regulation inhibits TERT expression, suppresses TERT activity and facilitates POF, suggesting the ROS-TERT pathway may work as the target for treating POF.
Abstract: OBJECTIVE Premature ovarian failure (POF) refers to the condition of pre-onset ovarian function failure, and is one commonly occurred disease in gynecology. Its pathogenic mechanism, however, is still unclear. Early study found decreased activity of telomerase reverse transcriptase (TERT). As an important factor to suppress TERT, oxidative stress has not been studied in POF. We, thus, investigated the role of reactive oxygen species (ROS)-TERT in POF. MATERIALS AND METHODS Rat POF model was induced by a single intraperitoneal injection of cyclophosphamide plus 12 mg/kg busulfan. Level of follicle stimulating hormone (FSH) and inhibin B was measured by enzyme-linked immunosorbent assay (ELISA), along with hematoxylin and eosin (HE) staining to confirm successful generation of models. Western blot was applied to measure TERT expression, and N-acetyl-cysteine (NAC) or TERT small interfere RNA (siRNA) was injected to suppress ROS or TERT level, followed by HE staining to observe POF condition. RESULTS In POF model, ovary tissues showed atrophy, less follicles, and more follicular atresia, plus mesenchymal hyperplasia. FSH and inhibin B level were significantly up-regulated and down-regulated, respectively (p<0.05). In POF rat, ROS level was elevated (p<0.05) whilst TERT level was decreased. NAC inhibited ROS level and enhanced TERT expression. In contrast, TERT siRNA further aggravated POF condition. CONCLUSIONS ROS up-regulation inhibits TERT expression, suppresses TERT activity and facilitates POF. The ROS-TERT pathway may work as the target for treating POF.
8 citations
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TL;DR: A brief outline of gene expression profile of LECs and the molecular biological function will give the reader a better understanding about the mechanics of lymphatic function and some pathologies related to the lymphatic system such as lymphoedema, and facilitate advanced scientific research into lymphatic biology.
8 citations
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TL;DR: The variant of PAI-2 gene was associated with CAD and recurrent coronary event risk in Chinese Han population, in Xinjiang and its prognoses was first found.
Abstract: Background
Plasminogen activator inhibitor −2 (PAI-2) is an important molecular that plays a crucial role in vascular homeostasis and constitutes a critical response mechanism to cardiovascular injury, such as atherosclerosis, coronary artery disease (CAD).
7 citations
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TL;DR: The results confirmed that the accuracy of peripheral nerve regeneration increased with time, after both crush and freeze injury, and indicated that axonal regeneration accuracy was still satisfactory after freezing, despite the prolonged damage.
7 citations
Authors
Showing all 243 results
Name | H-index | Papers | Citations |
---|---|---|---|
Wei Deng | 27 | 85 | 2134 |
Aikeremujiang Muheremu | 10 | 33 | 363 |
Jing Gao | 4 | 7 | 48 |
Rong Ma | 4 | 5 | 60 |
Juan Wang | 4 | 4 | 73 |
Su-Xia Han | 4 | 4 | 88 |
Liping Guo | 3 | 3 | 69 |
Akram Muharram | 3 | 3 | 87 |
Wen He | 3 | 3 | 69 |
You Lina | 3 | 7 | 18 |
Huowang Liu | 3 | 4 | 25 |
Suxia Han | 3 | 3 | 69 |
Guofu Huang | 3 | 5 | 25 |
Juan Wang | 3 | 4 | 45 |
Jiang Peng | 3 | 5 | 65 |