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https://www.readbyqxmd.com/read/28081267/single-nucleotide-variants-of-candidate-genes-in-aggrecan-metabolic-pathway-are-associated-with-lumbar-disc-degeneration-and-modic-changes
#1
Romain Shanil Perera, Poruwalage Harsha Dissanayake, Upul Senarath, Lalith Sirimevan Wijayaratne, Aranjan Lional Karunanayake, Vajira Harshadeva Weerabaddana Dissanayake
INTRODUCTION: Lumbar disc degeneration (LDD) is genetically determined and severity of LDD is associated with Modic changes. Aggrecan is a major proteoglycan in the intervertebral disc and end plate. Progressive reduction of aggrecan is a main feature of LDD and Modic changes. OBJECTIVES: The study investigated the associations of single nucleotide variants (SNVs) of candidate genes in the aggrecan metabolic pathway with the severity of LDD and Modic changes. In-silico functional analysis of significant SNVs was also assessed...
2017: PloS One
https://www.readbyqxmd.com/read/28067243/association-of-polymorphisms-in-three-pri-mirnas-that-target-pepsinogen-c-with-the-risk-and-prognosis-of-gastric-cancer
#2
Ye-Feng Wu, Qian Xu, Cai-Yun He, Ying Li, Jing-Wei Liu, Na Deng, Li-Ping Sun, Yuan Yuan
We aimed to explore the associations of polymorphisms in three microRNAs (miRNAs) (let-7e rs8111742, miR-365b rs121224 and miR-4795 rs1002765) that target PGC with the risk and prognosis of gastric cancer/atrophic gastritis. Sequenom's MassArray was used to genotype the miRNA polymorphisms in 724 gastric cancer cases, 862 atrophic gastritis cases and 862 controls in a Chinese population. We found that let-7e rs8111742 and miR-4795 rs1002765 were associated with the risk of gastric cancer in the H. pylori-positive subgroup...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28061459/association-between-ppap2b-gene-polymorphisms-and-coronary-heart-disease-susceptibility-in-chinese-han-males-and-females
#3
Yu-Xiao Sun, Chuan-Yu Gao, Yang Lu, Xin Fu, Jun-Ge Jia, Yu-Jie Zhao, Lian-Dong Li, Hong-Zhi Dui, Xing-Yu Zhang, Zhi-Ying Li, Lei Lei, Wei-Feng Zhang, Yi-Qiang Yuan
Little is known about gender-related differences in the association between PPAP2B single nucleotide polymorphisms (SNPs) and coronary heart disease (CHD) in Chinese Han males and females. We therefore conducted a case-control study with 456 cases and 685 healthy controls divided into male and female subgroups. Five PPAP2B polymorphisms (SNPs) were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age and gender...
January 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28059605/fetal-dna-hypermethylation-in-tight-junction-pathway-is-associated-with-neural-tube-defects-a-genome-wide-dna-methylation-analysis
#4
Linlin Wang, Shanshan Lin, Ji Zhang, Tian Tian, Lei Jin, Aiguo Ren
Neural tube defects (NTDs) are a spectrum of severe congenital malformations of fusion failure of the neural tube during early embryogenesis. Evidence on aberrant DNA methylation in NTD development remains scarce, especially when exposure to environmental pollutant is taken into consideration. DNA methylation profiling was quantified using the Infinium HumanMethylation450 array in neural tissues from 10 NTD cases and 8 non-malformed controls (stage 1). Subsequent validation was performed using a Sequenom MassARRAY system in neural tissues from 20 NTD cases and 20 non-malformed controls (stage 2)...
January 6, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28058730/multilocus-analysis-reveals-three-candidate-genes-for-chinese-migraine-susceptibility
#5
Xing-Kai An, Jie Fang, Zhen-Zhen Yu, Qing Lin, Cong-Xia Lu, Hong-Li Qu, Qi-Lin Ma
Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 migraine cases and 533 ethnically matched controls among a Chinese population. Eighteen polymorphisms from serotonin receptors and GWASs were selected, and genotyping was performed using a Sequenom MALDI-TOF mass spectrometry iPLEX platform...
January 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28052001/genetic-polymorphisms-in-aldh2-are-associated-with-drug-addiction-in-a-chinese-han-population
#6
Chan Zhang, Heng Ding, Yujing Cheng, Wanlu Chen, Qi Li, Qing Li, Run Dai, Manlin Luo
We investigated the association between single nucleotide polymorphisms (SNPs) in ALDH2, which has been associated with alcohol dependence and several types of diseases, and the risk of drug addiction in a Chinese Han population. In a case-control study that included 692 cases and 700 healthy controls, eight SNPs in ALDH2 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender...
December 29, 2016: Oncotarget
https://www.readbyqxmd.com/read/28046094/analysis-of-genetic-variation-in-cyp450-genes-for-clinical-implementation
#7
Liuh Ling Goh, Chia Wei Lim, Wey Cheng Sim, Li Xian Toh, Khai Pang Leong
BACKGROUND: Genetic determinants of drug response remain stable throughout life and offer great promise to patient-tailored drug therapy. The adoption of pharmacogenetic (PGx) testing in patient care requires accurate, cost effective and rapid genotyping with clear guidance on the use of the results. Hence, we evaluated a 32 SNPs panel for implementing PGx testing in clinical laboratories. METHODS: We designed a 32-SNP panel for PGx testing in clinical laboratories...
2017: PloS One
https://www.readbyqxmd.com/read/28039478/genetic-polymorphisms-in-the-telomere-length-related-gene-acyp2-are-associated-with-the-risk-of-colorectal-cancer-in-a-chinese-han-population
#8
Fang Liu, Zhongguo Zhang, Yong Zhang, Yue Chen, Xiaoyu Yang, Jibin Li, Jiaxing Zhao
We investigated the association between single nucleotide polymorphisms (SNPs) in ACYP2, which has been associated with telomere length in several types of cancer, and the risk of CRC in a Chinese Han population. In a case-control study that included 247 cases and 300 healthy controls, 14 SNPs in ACYP2 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender...
December 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/28028455/whole-genome-single-nucleotide-polymorphism-snp-marker-discovery-and-association-analysis-with-the-eicosapentaenoic-acid-epa-and-docosahexaenoic-acid-dha-content-in-larimichthys-crocea
#9
Shijun Xiao, Panpan Wang, Linsong Dong, Yaguang Zhang, Zhaofang Han, Qiurong Wang, Zhiyong Wang
Whole-genome single-nucleotide polymorphism (SNP) markers are valuable genetic resources for the association and conservation studies. Genome-wide SNP development in many teleost species are still challenging because of the genome complexity and the cost of re-sequencing. Genotyping-By-Sequencing (GBS) provided an efficient reduced representative method to squeeze cost for SNP detection; however, most of recent GBS applications were reported on plant organisms. In this work, we used an EcoRI-NlaIII based GBS protocol to teleost large yellow croaker, an important commercial fish in China and East-Asia, and reported the first whole-genome SNP development for the species...
2016: PeerJ
https://www.readbyqxmd.com/read/28011504/prognostic-and-therapeutic-potential-implications-of-genetic-variability-in-prostaglandin-e2-pathway-genes-in-rectal-cancer
#10
Marisa D Santos, Cristina Silva, Anabela Rocha, Carlos Nogueira, Fernando Castro-Poças, António Araujo, Eduarda Matos, Carina Pereira, Rui Medeiros, Carlos Lopes
AIM: To evaluate the prognostic significance and potential therapeutic implication of genetic variability in prostaglandin E2 pathway genes in patients with locally advanced rectal cancer (LARC) treated with neoadjuvant chemoradiotherapy (nCRT) followed by surgery. MATERIALS AND METHODS: This cohort study included 167 patients with LARC, treated with nCRT followed by surgery. A total of 61 single nucleotide polymorphisms (SNPs) were characterized using the Sequenom platform through multiplex amplification followed by mass-spectometric product separation...
January 2017: Anticancer Research
https://www.readbyqxmd.com/read/28002697/sequenom-v-ariosa-the-death-of-a-genetic-testing-patent
#11
Robert Cook-Deegan, Subhashini Chandrasekharan
Hong Kong physician-scientist Dennis Lo started a technical revolution in 1997 when he observed that DNA derived from placental cells could be detected in maternal blood during pregnancy, revealing information about the fetal genome or genotypes. Lo’s work built on research showing that fragments..
December 22, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27995340/new-single-nucleotide-polymorphisms-associated-with-differences-in-platelet-reactivity-and-their-influence-on-survival-in-patients-with-type-2-diabetes-treated-with-acetylsalicylic-acid-an-observational-study
#12
Lukasz Milanowski, Justyna Pordzik, Piotr K Janicki, Agnieszka Kaplon-Cieslicka, Marek Rosiak, Michal Peller, Agata Tyminska, Krzysztof Ozieranski, Krzysztof J Filipiak, Grzegorz Opolski, Dagmara Mirowska-Guzel, Marek Postula
AIMS: Genetic polymorphisms may contribute to platelet reactivity in diabetic patients; however, the information on their influence on long-term antiplatelet therapy is lacking. Our aim was to evaluate the role of previously described genetic variants and platelet reactivity on risk of all-cause mortality and cardiovascular events. METHODS: Blood samples were obtained from 303 Caucasian patients. Genome-wide genotyping was performed using Illumina Human Omni 2.5-Quad microarrays, and individual genotyping of selected SNPs was performed using a custom Sequenom iPLEX assay in conjunction with the Mass ARRAY platform...
December 19, 2016: Acta Diabetologica
https://www.readbyqxmd.com/read/27988891/investigation-of-36-non-hla-human-leucocyte-antigen-psoriasis-susceptibility-loci-in-a-psoriatic-arthritis-cohort
#13
Zheng Zhang, Jin Yuan, Zhen Tian, Jinhua Xu, Zhong Lu
Psoriasis has been intensively studied recently and numerous risk-associated variants within 44 susceptibility loci have been discovered. Estimates suggest that the genetic contribution to PsA (psoriatic arthritis) may be higher than PsV (psoriasis vulgaris) yet most work has been done on the latter due to its greater population prevalence. To test whether variants in the PsV-associated loci are also related to PsA, we performed a candidate loci association study in Chinese population. Genotyping was performed by MassARRAY platform (Sequenom, San Diego, CA, USA)...
December 17, 2016: Archives of Dermatological Research
https://www.readbyqxmd.com/read/27980229/il1r1-gene-polymorphisms-are-associated-with-knee-osteoarthritis-risk-in-the-chinese-han-population
#14
Yuyan Na, Rui Bai, Zhenqun Zhao, Yishan Wei, Daihe Li, Yong Wang, Chao Sun, Liang Sun, Bolun Zhang, Tianbo Jin, Wanlin Liu
IL1R1, encoding interleukin 1 receptor type 1, is located in the IL-1 gene cluster and is involved in the pathogenesis of hand, hip, and knee osteoarthritis (OA) in different ethnicities. However, the link between IL1R1 polymorphisms and OA risk in the Chinese Han population is unknown. We studied the association between five IL1R1 polymorphisms (rs10490571, rs12712127, rs956730, rs3917225, and rs3917318) and OA risk by analyzing the genotypes of 298 knee OA patients and 297 controls using Sequenom MassARRAY technology...
December 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27978515/aqp5-variants-affect-tumoral-expression-of-aqp5-and-survival-in-patients-with-early-breast-cancer
#15
Soo Jung Lee, Byung Woog Kang, Jong Gwang Kim, Jin Hyang Jung, Jeeyeon Lee, Wan Wook Kim, Ho Yong Park, Jae-Hwan Jeong, Ji Yun Jeong, Ji-Young Park, Jae Hyung Park, Yee Soo Chae
BACKGROUND: Our previous study showed the association of AQP5 upregulation with cancer proliferation and migration in breast cancer cell lines and with unfavorable prognosis in patients with early breast cancer (EBC). In the current study, we analyzed the association of AQP5 variants or their haplotypes with AQP5 expression and their prognostic impact for survival in patients with EBC. METHODS: Three AQP5 polymorphisms (rs74091166, rs3736309, and rs1964676) were selected based on the SNP database and genotyped using the Sequenom MassARRAY in 374 out of 447 patients with EBC in whom AQP5 expression had been investigated in our previous study...
December 16, 2016: Oncology
https://www.readbyqxmd.com/read/27974116/-association-between-tumor-necrosis-factor-%C3%AE-g-308a-polymorphisms-and-genetic-susceptibility-to-spontaneous-preterm-birth
#16
Wei Peng, Xiao Yang, Li-Na Zhu, Xiao-Ai Zhang, Yan Wang
OBJECTIVE: To study the association between tumor necrosis factor-α (TNF-α) G-308A polymorphisms and genetic susceptibility to spontaneous preterm birth (SPTB). METHODS: The case group enrolled 753 SPTB infants and the control group included 681 term infants. TNF-α G-308A polymorphisms were genotyped using Sequenom MassARRAY®SNP. RESULTS: The frequencies of the allele (G and A) in the case and control groups were not significantly different (P=0...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27941536/lc-ms-ms-analysis-of-erythrocyte-thiopurine-nucleotides-and-their-association-with-genetic-variants-in-patients-with-neuromyelitis-optica-spectrum-disorders-taking-azathioprine
#17
Shenghui Mei, Xindi Li, Xiaoqing Gong, Xingang Li, Li Yang, Heng Zhou, Yonghong Liu, Anna Zhou, Leting Zhu, Xinghu Zhang, Zhigang Zhao
BACKGROUND: Azathioprine (AZA) is a first-line drug in treating neuromyelitis optica spectrum disorders (NMOSD). To exhibit its bioactivity, AZA needs to be converted to thiopurine nucleotides (TPNs) including 6-thioguanine nucleotides (6-TGNs) and 6-methylmercaptopurine nucleotides (6-MMPNs) that are affected by genetic polymorphisms. This study aims to develop an LC-MS/MS method for the analysis of erythrocyte concentrations of TPNs and to evaluate their associations with variants of various genes (MTHFR, TPMT, HLA, SLC29A1, SLC28A2, SLC28A3, ABCB1 and ABCC4) in patients with NMOSD...
November 29, 2016: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/27936511/znf208-polymorphisms-associate-with-ischemic-stroke-in-southern-chinese-han-population
#18
Jianzhong Yu, Feng Zhou, Dong Luo, Nianzhen Wang, Chong Zhang, Tianbo Jin, Xiongfei Liang, Dan Yu
BACKGROUND: Ischemic stroke is one of the most common diseases with a high burden of neurological deficits, disability and death. Zinc finger protein 208 (ZNF208) was found to be involved in coronary heart disease, but little information was about its association with ischemic stroke. We performed this case-control study to elucidate the association between single-nucleotide polymorphisms (SNPs) within ZNF208 and risk of ischemic stroke in southern Chinese Han population. METHODS: A total of 799 subjects (400 cases and 399 health controls) were enrolled in this study...
December 9, 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27919627/randomized-phase-2-trial-of-pharmacodynamic-separation-of-pemetrexed-and-intercalated-erlotinib-versus-pemetrexed-alone-for-advanced-nonsquamous-non-small-cell-lung-cancer
#19
Tianhong Li, Bilal Piperdi, William V Walsh, Mimi Kim, Laurel A Beckett, Rasim Gucalp, Missak Haigentz, Venu G Bathini, Huiyu Wen, Kaili Zhou, Patricia B Pasquinelli, Srikanth Gajavelli, Meera Sreedhara, Xianhong Xie, Primo N Lara, David R Gandara, Roman Perez-Soler
BACKGROUND: Pharmacodynamic separation of pemetrexed and erlotinib avoids negative cellular interactions and results in antitumor synergy in erlotinib-resistant non-small-cell lung cancer (NSCLC) cells, independent of EGFR (epidermal growth factor receptor) genotype. PATIENTS AND METHODS: Patients with platinum-treated metastatic nonsquamous NSCLC were randomly assigned 1:2 to pemetrexed alone (500 mg/m(2) provided intravenously on day 1) or pemetrexed followed by erlotinib (150 mg provided orally once daily on days 2-17) every 21 days...
October 28, 2016: Clinical Lung Cancer
https://www.readbyqxmd.com/read/27916075/-effect-of-single-nucleotide-polymorphisms-of-rs1799937-located-in-wt1-gene-on-the-pathlogical-complete-response-to-neoadjuvant-chemotherapy-in-breast-cancer-patients
#20
M M Li, Y B Shao, H Liu, B Xu, B X He
Objective: To evaluate the association between single nucleotide polymorphisms (SNPs) of RS1799937 located in WT1 gene with complete response to neoadjuvant chemotherapy in breast cancer patients. Methods: 171 breast cancer patients with neoadjuvant chemotherapy were investigated to detect the RS1799937 polymorphism by sequenom method. The relationship between RS1799937 polymorphism and pathologic complete response (pCR) were analyzed by χ(2) test and Fisher's exact test analysis. Predictors of pCR were analyzed using multivariate logistic regression analysis...
November 29, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
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