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https://www.readbyqxmd.com/read/29344216/hypermethylation-downregulates-p2x7-receptor-expression-in-astrocytoma
#1
Jing Liu, Ningning Li, Ruofan Sheng, Rui Wang, Zude Xu, Ying Mao, Yin Wang, Ying Liu
The present study investigated the altered expression of p2X purinoceptor (P2X7R) in astrocytoma. Reverse transcription-quantitative polymerase chain reaction and western blot analysis were used to determine the P2X7R expression in glioblastoma (GBM) and surrounding normal brain tissue. DNA methylation levels of P2X7R gene promoter in GBM were analyzed using a Sequenom MassARRAY® System. Immunohistochemistry (IHC) was used to detect the expression of P2X7R in astrocytoma at different malignancy grades, including diffuse astrocytoma, anaplastic astrocytoma and GBM...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29323771/association-of-igfn1-variant-with-polypoidal-choroidal-vasculopathy
#2
Xiaofeng Wen, Yu Liu, Qi Yan, Minling Liang, Miao Tang, Ran Liu, Jianying Pan, Qiuhui Liu, Tingting Chen, Shixin Guo, Juanran Liang, Lin Lu, Xiaoyan Ding, Wei Chen, Lai Wei
BACKGROUND: Polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (nAMD) share similar phenotype but are different in clinical manifestations, responses to treatment, and prognosis. Whether PCV is a subtype of AMD or a distinct entity from nAMD remains elusive. Therefore, we performed a whole-exome sequencing (WES) based association analysis to compare the genetic architecture of PCV and nAMD in Han Chinese. METHODS: Whole-exome sequencing analysis was performed on 21 nAMD cases, 20 PCV cases and 20 healthy controls...
January 11, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29323753/associations-of-mitochondrial-polymorphisms-with-sporadic-colorectal-adenoma
#3
Bharat Thyagarajan, Weihua Guan, Veronika Fedirko, Helene Barcelo, Ramya Ramasubramaian, Myron Gross, Michael Goodman, Roberd M Bostick
Somatic mutations in mitochondrial DNA have been reported in colorectal adenomatous polyps (adenomas), the precursors to most colorectal cancers. However, there are no reports of associations of germline variation in mitochondrial DNA with adenoma risk. We investigated associations of germline polymorphisms in the displacement loop (D-loop) and non-D-loop region of the mitochondrial genome with incident, sporadic colorectal adenoma in three pooled colonoscopy-based case-control studies (n = 327 adenoma cases, 420 controls) that used identical methods for case and risk factor ascertainment...
January 11, 2018: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/29318394/genetic-association-of-hcrtr2-adh4-and-clock-genes-with-cluster-headache-a-chinese-population-based-case-control-study
#4
Zhiliang Fan, Lei Hou, Dongjun Wan, Ran Ao, Dengfa Zhao, Shengyuan Yu
BACKGROUND: Cluster headache (CH), a rare primary headache disorder, is currently thought to be a genetic susceptibility which play a role in CH susceptibility. A large numbers of genetic association studies have confirmed that the HCRTR2 (Hypocretin Receptor 2) SNP rs2653349, and the ADH4 (Alcohol Dehydrogenase 4) SNP rs1126671 and rs1800759 polymorphisms are linked to CH. In addition, the CLOCK (Circadian Locomotor Output Cycles Kaput) gene is becoming a research hotspot for CH due to encoding a transcription factor that serves as a basic driving force for circadian rhythm in humans...
January 9, 2018: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29306656/association-between-a-microrna-binding-site-polymorphism-in-slco1a2-and-the-risk-of-delayed-methotrexate-elimination-in-chinese-children-with-acute-lymphoblastic-leukemia
#5
Shu-Mei Wang, Wei-Xin Zeng, Wan-Shui Wu, Lu-Lu Sun, Dan Yan
Organic anion-transporting polypeptide 1A2 (OATP1A2) is involved in the cellular uptake of methotrexate (MTX). Genetic variation in solute carrier organic anion transporter family member 1A2 (SLCO1A2, the coding gene of OATP1A2) has important implications for the elimination of MTX. We investigated the association between a microRNA (miRNA) binding site polymorphism (rs4149009 G > A) in the 3'-untranslated region (3'-UTR) of SLCO1A2 with the serum MTX concentrations in Chinese children with acute lymphoblastic leukemia (ALL)...
January 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29297929/increased-expression-of-prkcb-mrna-in-peripheral-blood-mononuclear-cells-from-patients-with-systemic-lupus-erythematosus
#6
Zhengwei Zhu, Lulu Yang, Yaohua Zhang, Lu Liu, Yan Huang, Leilei Wen, Chao Yang, Liyun Chen, Wenjun Wang, Xianbo Zuo, Fusheng Zhou, Hongyan Wang, Huayang Tang, Xuejun Zhang, Sen Yang, Yujun Sheng, Yong Cui
The polymorphism of PRKCB has been proven to be associated with systemic lupus erythematosus (SLE) in our previous study. We aimed to investigate the relationship between expression of PRKCB mRNA and the Disease Activity Index (SLEDAI) and manifestations of SLE. Quantitative reverse transcription polymerase chain reaction (RT-PCR) was applied to examine the expression of PRKCB mRNA in peripheral blood mononuclear cells of 60 patients with SLE and 62 controls. The Sequenom MassArray System was used to detect genotype SNP rs16972959...
January 3, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29285231/associations-between-tnfsf4-tnfsf8-and-tnfsf15-and-beh%C3%A3-et-s-disease-but-not-vkh-syndrome-in-han-chinese
#7
Yan Jiang, Ling Cheng, Xin Li, Wenke Zhou, Li Zhang
The present study was designed to explore the interrelationship between single nucleotide polymorphisms (SNP) of the tumor necrosis factor superfamily (TNFSF) and its respective receptor superfamily (TNFRSF) genes and Behcet's disease (BD) and Vogt-Koyanagi-Harada syndrome (VKH) in Han Chinese. The study sample included 796 patients with BD, 792 patients with VKH syndrome, and 1604 healthy controls. The genotyping of 35 SNPs was performed by MassARRAY platform (Sequenom), iPLEX Gold Assay, PCR-restriction fragment length polymorphism assay and TaqMan SNP assay...
December 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/29278768/association-of-polymorphisms-in-erap1-and-risk-of-ankylosing-spondylitis-in-a-chinese-population
#8
Yin Tang, Ping Yang, Fang Wang, Hui Xu, Shou-Yang Zong
To explore the association between five polymorphisms in endoplasmic reticulum associated aminopeptidase 1 (ERAP1) gene and risk of ankylosing spondylitis (AS) in a Chinese population. A case-control study enrolled 250 AS patients and 250 healthy controls was carried out. The genotypes of involved polymorphisms (rs27037, rs27038, rs469876, rs27044 and rs27980) in ERAP1 were detected by Sequenom Mass-Array platform. There were significant differences of the level of WBC (white blood cell), Platelets, CRP (C-reactive protein) and ESR (erythrocyte sedimentation rate) between AS patients and controls (Pall<0...
December 23, 2017: Gene
https://www.readbyqxmd.com/read/29251369/association-of-polymorphism-in-the-vegfa-gene-3-utr-936t-c-with-susceptibility-to-biliary-atresia-in-a-southern-chinese-han-population
#9
Fei Liu, Jixiao Zeng, Deli Zhu, Ruizhong Zhang, Xiaogang Xu, Mengmeng Wang, Yan Zhang, Huimin Xia, Zhichun Feng
BACKGROUND: Biliary atresia (BA) is a neonatal disease characterized by chronic inflammation of the bile ducts and progressive aggravation of jaundice, but with a poor prognosis and high mortality. The etiology of BA is still uncertain which may be related to gene defect, virus infection, immune disorder, gene polymorphism. As a proinflammatory cytokine, VEGFA gene polymorphism (rs3025039) has been shown to be related to the pathogenesis of BA in Taiwanese population. METHODS: We investigated the association between VEGFA gene polymorphism (rs3025039) and BA susceptibility using the largest case-control cohort, totaling with 506 BA patients and 1473 healthy controls in a Southern Chinese Han population...
December 18, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29221129/long-non-coding-rna-polymorphisms-in-6p21-1-are-associated-with-atrophic-gastritis-risk-and-gastric-cancer-prognosis
#10
Zhi Lv, Liping Sun, Qian Xu, Yuehua Gong, Jingjing Jing, Chengzhong Xing, Yuan Yuan
It has been suggested that the genetic variation in human chromosome 6p21.1 has potential importance for the susceptibility to gastric cancer (GC). The study aims to explore the relationship between the long non-coding RNA (lncRNA) polymorphisms in 6p21.1 and the risk of GC as well as atrophic gastritis (AG). Genotyping for eight single nucleotide polymorphisms (SNPs) was conducted using Sequenom MassARRAY platform in a total of 2507 northern Chinese subjects, including 749 GC cases, 878 AG cases and 880 controls...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29207917/functional-effects-of-snps-in-myh9-and-risks-of-nonsyndromic-orofacial-clefts
#11
Y Wang, D Li, Y Xu, L Ma, Y Lu, Z Wang, L Wang, W Zhang, Y Pan
Nonsyndromic orofacial clefts (NSOCs) are congenital newborn malformations. Myosin heavy chain 9 ( MYH9) is a candidate gene of NSOCs. To investigate the associations between single-nucleotide polymorphisms (SNPs) of MYH9 and NSOC susceptibility, a 2-stage case-control study was designed and 4 potentially functional SNPs of MYH9 (rs12107, rs2269529, rs9619601, rs5756130) were selected and genotyped by iPLEX Sequenom MassARRAY and TaqMan assay in the first stage (599 NSOC cases and 590 controls). The significant SNPs in the first stage were replicated in the second stage (676 NSOC cases and 705 controls) by TaqMan assay...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29207898/nr3c1-gene-polymorphisms-are-associated-with-steroid-resistance-in-patients-with-primary-nephrotic-syndrome
#12
Jie Liu, Zan Wan, Qianqian Song, Zhi Li, Yijing He, Yongjun Tang, Wanying Xie, Yanyun Xie, Jun Zhang
AIM: The aim of this study was to investigate the role of SNPs of genes involved in the glucocorticoid pathway in the development of steroid resistance in patients with primary nephrotic syndrome. METHODS: Sequenom MassARRAY method was used to sequence 25 SNP genotypes in 154 patients. The frequency distribution of the genotypes was compared between patients with steroid-sensitive nephrotic syndrome and those with steroid-resistant nephrotic syndrome. RESULTS: NR3C1 rs6196 G allele carriers had a decreased risk of steroid resistance compared with that of the A allele carriers...
December 6, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29207674/genetic-polymorphisms-in-caveolin-1-associate-with-breast-cancer-risk-in-chinese-han-population
#13
Meng Wang, Tian Tian, Xiaobin Ma, Wenge Zhu, Yan Guo, Zhao Duan, Jiangbo Fan, Shuai Lin, Kang Liu, Yi Zheng, Qianwen Sheng, Zhi-Jun Dai, Huixia Peng
Caveolin-1(CAV-1) was demonstrated to be a tumor suppressor gene and be implicated in the development of breast cancer (BC). Numerous potentially functional polymorphisms in CAV-1 have been identified, but their effects on BC were not clear. This case-control study aims to evaluate the relationship between CAV-1 polymorphisms and BC risk. 560 BC patients and 583 healthy controls were enrolled in the present study, all from Chinese Han population. We detected 3 single nucleotide polymorphisms (rs3807987, rs1997623, and rs7804372) in CAV-1 using the Sequenom MassARRAY method...
October 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/29191122/association-between-tpmt-3c-and-decreased-thiopurine-s-methyltransferase-activity-in-patients-with-neuromyelitis-optica-spectrum-disorders-in-china
#14
Xiaoqing Gong, Shenghui Mei, Xindi Li, Xingang Li, Heng Zhou, Yonghong Liu, Anna Zhou, Li Yang, Zhigang Zhao, Xinghu Zhang
AIM OF THE STUDY: Thiopurines are effective drugs in treating neuromyelitis optica spectrum disorders and other diseases. Thiopurines' toxicity is mainly imputed to thiopurine S-methyltransferase activity. In Chinese population, the most common and important variation of thiopurine S-methyltransferase is TPMT*3C (rs1142345). This study aims to reveal the association between thiopurine S-methyltransferase activity and genetic polymorphisms of thiopurine S-methyltransferase in patients with neuromyelitis optica spectrum disorders in China...
December 1, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29189974/association-of-sirt1-gene-polymorphism-and-its-expression-for-the-risk-of-alcoholic-fatty-liver-disease-in-the-han-population
#15
Yeting Hou, Bingzhong Su, Ping Chen, Haijing Niu, Sheng Zhao, Ruijun Wang, Wei Shen
OBJECTIVE: To investigate the associations between SIRT1 polymorphisms and their expression in patients with alcoholic fatty liver disease (AFLD). METHODS: A total of 268 heavy drinkers were divided into the AFLD group (n = 176) and alcoholic control (n = 92) and 237 light-/non-drinkers into the NAFLD (non-AFLD) group (n = 117) and healthy control (n = 120). The genotyping of SIRT1 (rs33957861, rs11599176, rs12413112 and rs35689145) was detected by the Sequenom MassARRAY iPLEX test...
November 30, 2017: Hepatology International
https://www.readbyqxmd.com/read/29179499/association-between-il4-il6-gene-polymorphism-and-lumbar-disc-degeneration-in-chinese-population
#16
Yong Zhu, Shunan Li, FangLin Niu, Mengdan Yan, Jing Li, Haiyu Jia, Xuejun Yang
Lumbar disc disease (LDD) is a common musculoskeletal disorder, caused by degeneration of intervertebral discs of the lumbar spine and is one of the most common musculoskeletal disorders affliction in adult. There is growing evidence that LDD has strong genetic determinants. We analyze whether the IL4 and IL6 gene polymorphism is related to LDD in Chinese Han population. The participants were 498 with LDD and 463 without LDD. IL4 and IL6 gene polymorphism were determined by Sequenom MassARRAY. We found that SNPs rs1800796(OR = 1...
October 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/29177603/impact-of-multi-gene-mutational-profiling-on-clinical-trial-outcomes-in-metastatic-breast-cancer
#17
Rossanna C Pezo, Tom W Chen, Hal K Berman, Anna M Mulligan, Albiruni A Razak, Lillian L Siu, David W Cescon, Eitan Amir, Christine Elser, David G Warr, Srikala S Sridhar, Celeste Yu, Lisa Wang, Tracy L Stockley, Suzanne Kamel-Reid, Philippe L Bedard
PURPOSE: Next-generation sequencing (NGS) has identified recurrent genomic alterations in metastatic breast cancer (MBC); however, the clinical utility of incorporating routine sequencing to guide treatment decisions in this setting is unclear. We examine the frequency of genomic alterations in MBC patients from academic and community hospitals and correlate with clinical outcomes. METHODS: MBC patients with good performance status were prospectively recruited at the Princess Margaret Cancer Centre (PM) in Canada...
November 24, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29173032/impact-of-snp-snp-interaction-among-abcb1-arrb2-drd1-and-oprd1-on-methadone-dosage-requirement-in-han-chinese-patients
#18
Rui Luo, Xingyuan Li, Shasha Qin, Zhenzhou Luo, Xi Luo, Peiwu Hu, Zhisheng Liu, Xiangling Feng, Xingli Li
AIM: To evaluate the potential association of the genetic polymorphisms in ABCB1, ARRB2, DRD1 and OPRD1 genes with methadone dosage requirement among Han Chinese opioid-dependent patients. MATERIALS & METHODS: Eight SNPs in ABCB1, ARRB2, DRD1 and OPRD1 genes were selected and genotyped using Sequenom MassARRAY platform among 257 methadone maintenance treatment patients. The required information about stable methadone dose, urine analysis for opioid and socio-demographic characteristics was collected...
November 27, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29156753/candidate-tumor-suppressor-znf154-suppresses-invasion-and-metastasis-in-npc-by-inhibiting-the-emt-via-wnt-%C3%AE-catenin-signalling
#19
Ying Hu, Min-Fang Qi, Qian-Lan Xu, Xiang-Yun Kong, Rui Cai, Qiu-Qiu Chen, Hua-Ying Tang, Wei Jiang
Background: Nasopharyngeal carcinoma (NPC) is especially prevalent in southeast Asia and southern China, but its molecular mechanisms remain poorly characterized. DNA methylation is associated with initiation and progression of tumors, including NPC. Through a genome-wide DNA methylation screening approach, we discovered ZNF154, but its methylation status and roles in NPC have not been investigated. Methods: The methylation status of ZNF154 in NPC was detected with Methylation specific-PCR (MSP) and Quantitative Sequenom MassARRAY...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29141648/polymorphisms-at-microrna-binding-sites-of-ara-c-and-anthracyclines-metabolic-pathway-genes-are-associated-with-outcome-of-acute-myeloid-leukemia-patients
#20
Hai-Xia Cao, Chao-Feng Miao, Liang Yan, Ping Tang, Li-Rong Zhang, Ling Sun
BACKGROUND: Gene polymorphisms at microRNA-binding sites (poly-miRTS) may affect gene transcription and expression through miRNA regulation, which is associated with cancer susceptibility, sensitivity to chemotherapy and prognosis. This study investigated the association between poly-miRTS of Ara-C/anthracycline metabolic pathways genes and the outcome of acute myeloid leukemia (AML) in Chinese patients after Ara-C-based chemotherapy. METHODS: A total of 17 poly-miRTS were selected from the SNPinfo Web Server and genotyped in 206 Chinese Han non-FAB-M3 AML patients using the SEQUENOM Mass-ARRAY system...
November 15, 2017: Journal of Translational Medicine
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