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Shicheng Li, Ronghua Yang, Xiao Sun, Shuncheng Miao, Tong Lu, Yuanyong Wang, Yang Wo, Wenjie Jiao
We identified and investigated the prognostic value of secreted phosphoprotein 1 (SPP1) in lung adenocarcinoma (LUAD) patients and evaluate the relationship between the SPP1 expression level and clinical characteristics. First, SPP1 was identified through four LUAD datasets in GEO database and validated by the TCGA database. Then a total of 149 lung adenocarcinoma patients were included, as well as their clinicopathological characteristics collected in the study. The expression levels of SPP1 and adjacent normal tissues were assessed by immunohistochemistry...
September 18, 2018: Gene
Marwa S Hassan, A A Shaalan, M I Dessouky, Abdelaziz E Abdelnaiem, Mahmoud ElHefnawi
Non-Synonymous Single-Nucleotide Variants (nsSNVs) and mutations can create a diversity effect on proteins as changing genotype and phenotype, which interrupts its stability. The alterations in the protein stability may cause diseases like cancer. Discovering of nsSNVs and mutations can be a useful tool for diagnosing the disease at a beginning stage. Many studies introduced the various predicting singular and consensus tools that based on different Machine Learning Techniques (MLTs) using diverse datasets...
September 18, 2018: Gene
Ning Wang, Xiaona Meng, Yongyi Liu, Yong Chen, Qingwei Liang
OBJECTIVES: Osteosarcoma is one of common malignant tumors worldwide in the metaphysis of teenagers. The role of lncRNAs in Osteosarcoma has become an emerging area of research. MATERIALS AND METHODS: Cell migration and invasion were analyzed in Osteosarcoma cell following knockdown or overexpression by transfection with small interfering RNA (siRNA) or treated with LPS. Western blotting and Real-time RT-PCR methods were used to analyze the effects of LPS on EMT...
September 18, 2018: Gene
Linyan Chen, Yi Zhang, Yuan Cheng, Dan Zhang, Sha Zhu, Xuelei Ma
Because of the deep research about tumorigenesis mechanism, the cognition of cancer has been transferred to molecular level from morphology. Previous articles reported a potential connection between circulating cell-free DNA (cfDNA) and prognosis of pancreatic cancer. A total of 18 related articles including 1243 patients were enrolled to access the relationship between cfDNA and prognosis of pancreatic cancer. The hazard ratio (HR) was used to combine the univariate and multivariate results of included studies...
September 15, 2018: Gene
Voranush Chongsrisawat, Ponghatai Damrongphol, Chupong Ittiwut, Rungnapa Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder affecting both males and females. Hemizygous males commonly present with severe hyperammonemic encephalopathy during the neonatal period. Heterozygous females have great phenotypic variability. The majority of female patients can manifest later in life or have unrecognized symptoms, making the diagnosis of OTCD in females very challenging. Here we report on three unrelated Thai female cases with OTCD presenting with different manifestations including aggressive behavior, acute liver failure and severe encephalopathy...
September 14, 2018: Gene
Soundararajan Krishnaswamy, Ihtisham Bukhari, Abdul Khader Mohammed, Osama Emam Amer, Gyanendra Tripathi, Majed S Alokail, Nasser M Al-Daghri
RON receptor tyrosine kinase is a transmembrane protein directly involved in suppression of inflammation and its aberrant expression linked to cancers and metastasis. Efforts to block deregulated RON signaling in tumors using small molecule kinase inhibitors or antibodies have been complicated by the presence of unknown number/types of isoforms of RON, which, despite being structurally similar, localize differently and mediate varied functions. Current study was designed to identify the splice variants of RON transcripts formed by skipping of sequences between exons 9 and 14 for better understanding of isoform specific RON signaling in cancers...
September 14, 2018: Gene
Shitao Rao, Cynthia O Siu, Mai Shi, Jihui Zhang, Marco Ho Bun Lam, Mandy Yu, Yun Kwok Wing, Mary Miu Yee Waye
BACKGROUND: Suicide is a fatal outcome for subjects with mental ill-health. Genetic factors and psychological correlates are believed to contribute to the risk of suicide attempts (SA), whereas both factors are reported to exert a small effect. This study therefore tried to investigate if combination of the two aspects can enhance the explanation of variance in SA. METHODS: A common variant rs7713917 in HOMER1 gene was genotyped for 333 Chinese psychiatric patients with or without SA...
September 13, 2018: Gene
Mehdi Dehghani, Mehdi Kargarfard, Farzaneh Rabiee, Mohammad Hossein Nasr-Esfahani, Kamran Ghaedi
The purpose of this study was to investigate the effect of a single bout and 8 weeks of downhill running versus uphill running exercise on expression of PGC1-α, FNDC5 and UCP1 in mice. Forty-eight BALB/c male mice weighing 25-30 g were randomly assigned into 8 groups: 1) acute downhill running (ADR) on a -15° slope; 2) acute uphill running (AUR) on a +15° slope; 3) acute running without inclination (AWI), 4) acute without exercise as control (ACtrl), 5) chronic downhill running (CDR) on a -15° slope; 6) chronic uphill running (CUR) on a +15°slope; 7) chronic running without inclination (CWI), 8) chronic without exercise as control (CCtrl)...
September 13, 2018: Gene
Venugopal Vinod Prabhu, Perumal Elangovan, Sivasithambaram Niranjali Devaraj, Kunnathur Murugesan Sakthivel
Lung cancer is the leading cause of cancer deaths worldwide and non-small cell lung carcinoma (NSCLC), a heterogeneous class of tumors, represents approximately 85% of all new lung cancer diagnosis. Conventional treatment options have limited efficacy because most cases are in the advanced stage at the time of diagnosis. The present study evaluates the anti-cancer activity of 1,2-diazole (pyrazole), a natural compound from mangrove plant Rhizophora apiculata (R.apiculata) on A549 lung carcinoma cells. In the present study the anti-cancer mechanism of pyrazole, was examined by the expression level of proteins Epidermal growth factor receptor (EGFR), Bcl-2-associated X protein (Bax), B-cell lymphoma-2 (Bcl-2) and Cyclin-dependent kinase-2 (CDK-2) which are commonly associated with the cell signaling pathways that control cell survival and apoptosis, that could facilitate to develop a novel target and effective treatment approach for patients with NSCLC...
September 13, 2018: Gene
Zhiyuan Yang, Fuyan Hu
Vertebrate genomes have been considered to have undergone a complicated evolution during their early period and to have generated a large number of genetic templates with novel functions, such as an extended spinal cord and a dorsal central nervous system. However, consistent gene evolution in vertebrate genomes has not been fully elucidated. In this study, we have systematically investigated the gene evolution in vertebrates utilizing a series of comparative genomics tools. We determined that three critical genes were consistently lost in vertebrate genomes, and 14 genes initially emerged in vertebrate formation...
September 12, 2018: Gene
Hai-Feng Wang, Jian-Hui Wu, Jun-Wei Gai, Shi-Qiang Yang, Qing-Tong Ma, Hong-Shun Ma, Qiang Feng
Bladder cancer (BC) has been regarded as the most common malignancy of the urinary system worldwide. With lack of investigations for molecular pathogenesis underlying that develop BC, the therapeutic efficacy of several therapeutic approaches existing is still unsatisfactory. Here, our study aimed to explore the potentially biological function of MAN1B1 on BC. In this study, MAN1B1 expression level in BC tissues and normal tissues was analyzed based on The Cancer Genome Atlas (TCGA) data and correlation between its expression and prognosis was determined using Kaplan-Meier analysis...
September 12, 2018: Gene
Chao-Nan Xie, Ming Yue, Peng Huang, Ting Tian, Hao-Zhi Fan, Meng-Ping Wu, Rong-Bin Yu, Hong-Gang Yi, Xue-Shan Xia, Yue Feng, Yun Zhang, Jie Wang
Vitamin D binding protein (VDBP) plays an important role in the immune modulation and pathogenesis of hepatitis C viral (HCV) infection by influencing serum vitamin D levels. The present study aims to evaluate the association of VDBP genetic polymorphisms with susceptibility to and chronicity of HCV infection in a high-risk Chinese population. Seven genetic variants in the VDBP gene were genotyped in a case-control study of 886 patients with HCV persistent infection, 539 subjects with spontaneous clearance, and 1081 uninfected controls...
September 12, 2018: Gene
Yu-Rui Jiao, Wei Wang, Peng-Cheng Lei, Hui-Ping Jia, Jie Dong, Yun-Qian Gou, Cheng-Long Chen, Jie Cao, Ya-Feng Wang, Yi-Kun Zhu
BACKGROUND: The influence of 5-HTT, BMPR2, EDN1, ENG, KCNA5 genes polymorphisms on susceptibility of pulmonary arterial hypertension remains uncertain. This meta-analysis is conducted for further study. METHODS: We conducted a literature search on PubMed and ISI web of science databases for searching relevant articles until November 2017. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. A total of 17 articles with 2631 PAH subjects and 5139 controls were included in the final meta-analysis...
September 12, 2018: Gene
Liwan Fu, Meixian Zhang, Yue-Qing Hu, Xiaoyuan Zhao, Hong Cheng, Dongqing Hou, Jie Mi
Obesity is a major risk for hypertension. However, the associations between hypertension susceptibility loci and the risk of obesity as well as the effects of gene-gene interactions are unclear, especially in the Chinese children population. Six single nucleotide polymorphisms (SNPs) (ATP2B1 rs17249754, CSK rs1378942, MTHFR rs1801133, CYP17A1 rs1004467, STK39 rs3754777, FGF5 rs16998073) were genotyped for 3503 Chinese children, aged 6-18 years. Of them, 758 obese cases and 2745 controls were identified based on the International Obesity Task Force age- and sex-specific BMI references...
September 12, 2018: Gene
Nicolas Lebrun, Claire Mehler-Jacob, Karine Poirier, Cecile Zordan, Didier Lacombe, Nathalie Carion, Pierre Billuart, Thierry Bienvenu
Histone lysine methylation influences processes such as gene expression and DNA repair. Thirty Jumonji C (JmjC) domain-containing proteins have been identified and phylogenetically clustered into seven subfamilies. Most JmjC domain-containing proteins have been shown to possess histone demethylase activity toward specific histone methylation marks. One of these subfamilies, the KDM5 family, is characterized by five conserved domains and includes four members. Interestingly, de novo loss-of-function and missense variants in KDM5B were identified in patients with intellectual disability (ID) and autism spectrum disorder (ASD) but also in unaffected individuals...
September 12, 2018: Gene
Jiajin Lin, Rongcang Chen, Suiyong Zhu, Xiaole Qiu, Ying Huang, Xiudi Wang
BACKGROUND: To analyze the sequence of α-(1, 2)-fucosyltransferase gene (FUT1) in nine individuals with Para-Bombay phenotype. METHODS: Para-Bombay phenotype was defined according to the serologic characteristics and ABO genotypes. The full coding region of FUT1 was amplified, genotype and haplotype were analyzed by direct and TOPO cloning sequencing which was used to discriminate heterozygous mutations of FUT1. RESULTS: These nine individuals were identified as three Para-Bombay A (Ah), six Para-Bombay B (Bh) according to serologic characteristics and ABO genotypes...
September 11, 2018: Gene
Yanyun Li, Qingqing Cai, Lin Lin, Congjian Xu
By employing bioinformatics scanning approaches and luciferase reporter, our previous study showed that two less common human miRNAs, miR-875 and miR-3144, target a conserved site in the genomes of most high-risk human papillomaviruses (HR-HPVs). In this study, we found that the site targeted by miR-875 and miR-3144 overlapped with the 5' alternative splice site of E6E7 transcripts in HPV16. Using HPV16+ SiHa cells, we showed that high levels of miR-875 and miR-3144 reduced the abundance of unspliced E6, while they promoted three E6* spliced transcripts and decreased the expression levels of E6/E7 oncoproteins and epidermal growth factor receptor (EGFR)...
September 8, 2018: Gene
Saliya Gurusinghe, Nadeeka Bandara, Bryan Hilbert, Gareth Trope, Lexin Wang, Padraig Strappe
Monolayer expansion of chondrocytes in culture results in the dedifferentiation of chondrocytes with inferior cartilage specific extracellular matrix synthesis and proliferation when compared with its native counterpart. We aimed to enhance chondrocyte proliferation and articular cartilage specific gene expression through ectopic expression of the major pluripotency transcription factors (Oct4, Sox2, Klf4 and c-Myc). We also aimed to provide insights to the modulation of TGFβ receptor mRNA with Klf4 overexpression...
September 8, 2018: Gene
T Božina, J Lovrić, L Šimičević, A Merkler, M Božina, B Jelaković, J Sertić
BACKGROUND: Angiotensin II type 1 receptor (AT1R) gene 1166A>C polymorphism is strongly associated with the incidence of cardiovascular diseases and predicts the development of metabolic syndrome (MetS). There is little information about the gene-diet interactions associated with MetS. This investigation examined the interaction between dietary patterns and AT1R polymorphism in relation to development risk of MetS. METHODS: A prospective, non-interventional, case-control study included 265 MetS patients and 262 healthy controls in an adult population from Croatia...
September 8, 2018: Gene
Jinqiang Huang, Yongjuan Li, Fang Ma, Yujun Kang, Zhe Liu, Jianfu Wang
MicroRNAs (miRNAs) play key roles in the stress response in animals. The rainbow trout is a widely cultivated cold-water fish species that usually encounters heat stress, which affects its growth and may cause diseases. However, there is limited information on the miRNAs involved in heat stress in this species. To identify the heat-responsive miRNAs at the genome level in rainbow trout, we conducted high-throughput sequencing of 6 small RNA libraries from the liver tissues of rainbow trout specimens under control and heat-treated conditions...
September 8, 2018: Gene
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