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https://www.readbyqxmd.com/read/30221723/association-between-the-methylation-of-six-apoptosis%C3%A2-associated-genes-with-autism-spectrum-disorder
#1
Yuanzhi Zhao, Cong Zhou, Hang Yu, Wenwu Zhang, Fang Cheng, Haihang Yu, Dongsheng Zhou, Bin Li, Jing Liu, Jie Dai, Jie Zhong, Min Chen, Tianyi Huang, Ranran Pan, Shiwei Duan, Zhenyu Hu
Excessive apoptosis hinders the process of brain maturation and is regarded as one of the principal risk factors for the development of autism spectrum disorder (ASD). The aim of the present study was to investigate the association between the methylation of six apoptosis‑associated genes [transforming growth factor β 1 (TGFB1), BCL2 associated X, apoptosis regulator, insulin like growth factor binding protein 3, protein kinase C β 1, presenilin 2 and C‑C motif chemokine ligand 2] and ASD. Using quantitative methylation‑specific polymerase chain reaction technology, DNA methylation levels were detected in 42 autistic and 26 control subjects...
September 10, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/30221569/polymorphisms-and-haplotypes-in-vdr-gene-are-associated-with-female-idiopathic-infertility
#2
Jelena Djurovic, Gorana Stamenkovic, Jelena Todorovic, Natasa Aleksic, Oliver Stojkovic
Unexplained infertility refers to the absence of a definable cause of reproductive failure. Vitamin D receptor (VDR) acts as a transcription factor and regulates a number of vitamin D-responsive genes, including those involved in the immune system. Recent finding that VDR is expressed in reproductive tissues suggests a possible importance of vitamin D in pregnancy. We conducted a case-control study to examine the association of polymorphisms in VDR gene with reproductive success. DNA from 117 female patients with unexplained infertility and 130 fertile controls was isolated from peripheral blood and VDR genotypes (FokI, BsmI, ApaI and TaqI) were detected by PCR-RFLP...
September 17, 2018: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/30220972/the-frequency-of-promoter-dna-hypermethylation-is-decreased-in-colorectal-neoplasms-of-familial-adenomatous-polyposis
#3
Kiyoko Takane, Masaki Fukuyo, Keisuke Matsusaka, Satoshi Ota, Bahityar Rahmutulla, Kazuyuki Matsushita, Hideaki Miyauchi, Yukio Nakatani, Hisahiro Matsubara, Atsushi Kaneda
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by numerous colorectal adenomatous polyps with predisposition to the development of colorectal cancer (CRC). Here, we conducted genome-wide DNA methylation analysis of FAP neoplasms, including seven cancer samples and 16 adenoma samples, using an Infinium 450K BeadArray. As controls for sporadic colorectal neoplasms and mucosae, we used Infinium 450k data from 297 CRC samples, 45 colorectal adenoma samples, and 37 normal mucosa samples with reference to The Cancer Genome Atlas and other databases...
August 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/30220347/rethinking-the-carcinogenesis-of-breast-cancer-the-theory-of-breast-cancer-as-a-child-deficiency-disease-or-a-pseudo-semi-allograft
#4
Eiliv Lund, Lill-Tove Rasmussen Busund, Jean-Christophe Thalabard
The theory of breast cancer as a child deficiency disease is an inversion of the current paradigm, which considers full-term pregnancies to be a protective factor and uses nulliparous women as the reference group. Instead, the theory of breast cancer as a child deficiency disease says that women with the highest parity (about 20, which is the limit of human fertility) are those with the lowest risk and should be used as the reference group in risk estimations. This theory is explained biologically by converting parity from the simple value of number of children into an understanding of the long-lasting biological and immunological effects of pregnancy...
November 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/30219857/activity-of-plazomicin-compared-with-other-aminoglycosides-against-isolates-from-european-and-adjacent-countries-including-enterobacteriaceae-molecularly-characterized-for-aminoglycoside-modifying-enzymes-and-other-resistance-mechanisms
#5
Mariana Castanheira, Lalitagauri M Deshpande, Leah N Woosley, Alisa W Serio, Kevin M Krause, Robert K Flamm
Background: Plazomicin is a next-generation aminoglycoside that was developed to overcome common aminoglycoside-resistance mechanisms. Objectives: We evaluated the activity of plazomicin and comparators against clinical isolates collected from 26 European and adjacent countries during 2014 and 2015 as part of the Antimicrobial Longitudinal Evaluation and Resistance Trends (ALERT) global surveillance programme. Methods: All 4680 isolates collected from 45 hospitals were tested for susceptibility to antimicrobials using the reference broth microdilution method...
September 14, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/30219387/transcriptome-analysis-of-the-critically-endangered-dabry-s-sturgeon-acipenser-dabryanus-head-kidney-response-to-aeromonas-hydrophila
#6
Kai Luo, Jun Di, Panpan Han, Shuhuan Zhang, Lihai Xia, Guangming Tian, Wenbing Zhang, Dan Dun, Qiaoqing Xu, Qiwei Wei
Dabry's sturgeon (Acipenser dabryanus), as a living fossil, is considered a critically endangered aquatic animal in China. To date, the immune system of this species remains largely unknown, with limited available sequence information. In addition, increasing incidence of bacterial pathogenic diseases has been reported. Hence, the present study aimed to characterize comprehensively transcriptome profile of the head kidney from Dabry's sturgeon infected with Aeromonas hydrophila using Illumina platform. Over 42 million high-quality reads were obtained and de novo assembled into a final set of 195240 unique transcript fragments (unigenes), with an average length of 564 bp...
September 13, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/30218891/risk-stratification-of-cervical-disease-using-detection-of-human-papillomavirus-hpv-e4-protein-and-cellular-mcm-protein-in-clinical-liquid-based-cytology-samples
#7
Andrew Stevenson, Kim Kavanagh, Jiafeng Pan, Lynne Stevenson, Heather Griffin, John Doorbar, Evelyn Scott, Miriam Deeny, Kate Cuschieri, Sheila V Graham
BACKGROUND: While human papillomavirus (HPV) DNA testing offers high sensitivity for the detection of significant cervical disease, its specificity is suboptimal given the high prevalence of transient HPV infections (CIN1 or less). Biomarkers to identify those suffering from low grade disease from those with high grade disease could save healthcare costs and reduce patient anxiety. OBJECTIVE: The objective of the present work was to develop and test an immunohistochemistry (IHC)-based dual viral and cellular biomarker strategy which was applicable to liquid based cytology (LBC) samples...
August 31, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/30218741/the-human-rnaset2-protein-affects-the-polarization-pattern-of-human-macrophages-in-vitro
#8
Debora Scaldaferri, Annalisa Bosi, Marco Fabbri, Edoardo Pedrini, Antonio Inforzato, Roberto Valli, Annalisa Frattini, Annarosaria De Vito, Douglas M Noonan, Roberto Taramelli, Lorenzo Mortara, Francesco Acquati
Macrophages represent key inflammatory cellular effectors of the innate immune response. Despite being widely acknowledged as professional phagocytes, the functional roles played by these cells have been progressively widened over the years to encompass regulation of the adaptive immune system, stimulation or suppression of cancer cell growth and tissue remodeling. These diverse functional features have led to the concept of "macrophage plasticity", i.e. the ability of these cells to express a wide range of phenotypes endowed with different functional roles...
September 12, 2018: Immunology Letters
https://www.readbyqxmd.com/read/30218590/sexual-conflict-and-the-maintenance-of-genetic-variation-in-natural-populations
#9
Richard P Meisel
Understanding the factors that maintain genetic variation in natural populations is a foundational goal of evolutionary biology. To this end, population geneticists have developed a variety of models that can produce stable polymorphisms. In one of the earliest models, Owen () demonstrated that differences in selection pressures acting on males and females could maintain multiple alleles of a gene at a stable equilibrium. If the selection pressures act in opposite directions in males and females, we refer to this as (inter-) sexual conflict or sexual antagonism (Arnqvist & Rowe, )...
September 2018: Molecular Ecology
https://www.readbyqxmd.com/read/30218397/clinical-management-of-duchenne-muscular-dystrophy-the-state-of-the-art
#10
Sonia Messina, Gian Luca Vita
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disorder for which there is no cure. As the dystrophin gene is located on the X chromosome, DMD occurs predominately in males. DMD is caused by a lack of functional dystrophin protein resulting from mutations in the 2.2-Mb DMD gene, whichdisrupts the reading frame. Care considerations for DMD advocate a coordinated, multidisciplinary approach to the management of DMD in order to optimize management of the primary manifestations of DMD as well as any secondary complications that may arise...
September 14, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30217759/gene-gene-interactions-and-associations-of-six-hypertension-related-single-nucleotide-polymorphisms-with-obesity-risk-in-a-chinese-children-population
#11
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 11, 2018: Gene
https://www.readbyqxmd.com/read/30217213/secondary-findings-in-421-whole-exome-sequenced-chinese-children
#12
Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu, Zhou Zhou
BACKGROUND: Variants with known or possible pathogenicity located in genes that are unrelated to primary disease conditions are defined as secondary findings. Secondary findings are not the primary targets of whole exome and genome sequencing (WES/WGS) assay but can be of great practical value in early disease prevention and intervention. The driving force for this study was to investigate the impact of racial difference and disease background on secondary findings. Here, we analyzed secondary findings frequencies in 421 whole exome-sequenced Chinese children who are phenotypically normal or bear congenital heart diseases/juvenile obesity...
September 14, 2018: Human Genomics
https://www.readbyqxmd.com/read/30217078/degenerate-pcr-primers-to-reveal-the-diversity-of-giant-viruses-in-coastal-waters
#13
Yanze Li, Pascal Hingamp, Hiroyasu Watai, Hisashi Endo, Takashi Yoshida, Hiroyuki Ogata
"Megaviridae" is a proposed family of giant viruses infecting unicellular eukaryotes. These viruses are ubiquitous in the sea and have impact on marine microbial community structure and dynamics through their lytic infection cycle. However, their diversity and biogeography have been poorly characterized due to the scarce detection of Megaviridae sequences in metagenomes, as well as the limitation of reference sequences used to design specific primers for this viral group. Here, we propose a set of 82 degenerated primers (referred to as MEGAPRIMER), targeting DNA polymerase genes ( polBs ) of Megaviridae...
September 13, 2018: Viruses
https://www.readbyqxmd.com/read/30216671/antigenic-evolution-of-h3n2-influenza-a-viruses-in-swine-in-the-united-states-from-2012-to-2016
#14
Marcus J Bolton, Eugenio J Abente, Divya Venkatesh, Jered A Stratton, Michael Zeller, Tavis K Anderson, Nicola S Lewis, Amy L Vincent
BACKGROUND: Six amino acid positions (145, 155, 156, 158, 159 and 189, referred to as the antigenic motif; H3 numbering) in the globular head region of hemagglutinin (HA1 domain) play an important role in defining the antigenic phenotype of swine Clade IV (C-IV) H3N2 IAV, containing an H3 from a late 1990s human-to-swine introduction. We hypothesized that antigenicity of a swine C-IV H3 virus could be inferred based upon the antigenic motif if it matched a previously characterized antigen with the same motif...
September 14, 2018: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/30216456/spontaneous-epimutations-in-plants
#15
REVIEW
Frank Johannes, Robert J Schmitz
Contents I. II. III. IV. References SUMMARY: Heritable gains or losses of cytosine methylation can arise stochastically in plant genomes independently of DNA sequence changes. These so-called 'spontaneous epimutations' appear to be a byproduct of imperfect DNA methylation maintenance and epigenome reinforcement events that occur in specialized cell types. There is continued interest in the plant epigenetics community in trying to understand the broader implications of these stochastic events, as some have been shown to induce heritable gene expression changes, shape patterns of methylation diversity within and among plant populations, and appear to be responsive to multi-generational environmental stressors...
September 14, 2018: New Phytologist
https://www.readbyqxmd.com/read/30216146/the-first-complete-genomic-structure-of-butyrivibrio-fibrisolvens-and-its-chromid
#16
Javier Rodríguez Hernáez, Maria Esperanza Cerón Cucchi, Silvio Cravero, Maria Carolina Martinez, Sergio Gonzalez, Andrea Puebla, Joaquin Dopazo, Marisa Farber, Norma Paniego, Máximo Rivarola
Butyrivibrio fibrisolvens forms part of the gastrointestinal microbiome of ruminants and other mammals, including humans. Indeed, it is one of the most common bacteria found in the rumen and plays an important role in ruminal fermentation of polysaccharides, yet, to date, there is no closed reference genome published for this species in any ruminant animal. We successfully assembled the nearly complete genome sequence of B. fibrisolvens strain INBov1 isolated from cow rumen using Illumina paired-end reads, 454 Roche single-end and mate pair sequencing technology...
September 14, 2018: Microbial Genomics
https://www.readbyqxmd.com/read/30215673/genomeflow-a-comprehensive-graphical-tool-for-modeling-and-analyzing-3d-genome-structure
#17
Tuan Trieu, Oluwatosin Oluwadare, Julia Wopata, Jianlin Cheng
Motivation: Three-dimensional (3D) genome organization plays important functional roles in cells. User-friendly tools for reconstructing 3D genome models from chromosomal conformation capturing data and analyzing them are needed for the study of 3D genome organization. Results: We built a comprehensive graphical tool (GenomeFlow) to facilitate the entire process of modeling and analysis of 3D genome organization. This process includes the mapping of Hi-C data to one-dimensional (1D) reference genomes, the generation, normalization and visualization of two-dimensional (2D) chromosomal contact maps, the reconstruction and the visualization of the 3D models of chromosome and genome, the analysis of 3D models, and the integration of these models with functional genomics data...
September 12, 2018: Bioinformatics
https://www.readbyqxmd.com/read/30214306/association-between-lncrna-casc8-polymorphisms-and-the-risk-of-cancer-a-meta-analysis
#18
Zhigang Cui, Min Gao, Zhihua Yin, Lei Yan, Lei Cui
Objective: To explore the relationship between single-nucleotide polymorphisms (SNPs) in one of the long noncoding RNA (lncRNA), cancer susceptibility candidate 8 ( CASC8 ) gene and the risk of cancer. Materials and methods: A meta-analysis was conducted to summarize the relationship between common SNPs (rs10505477 and rs7837328) in the lncRNA CASC8 gene and the risk of cancer. The relevant references were retrieved from several authoritative databases. Rigorous inclusion and exclusion criteria were adopted to ensure the credibility of the results...
2018: Cancer Management and Research
https://www.readbyqxmd.com/read/30214228/surgical-therapy-and-next-generation-sequencing-based-genetic-alteration-analysis-of-malignant-solitary-fibrous-tumor-of-the-pleura
#19
Zuoqing Song, Fan Yang, Yingguo Zhang, Ping Fan, Guowei Liu, Chao Li, Wansheng Ding, Yulong Zhang, Xiaohong Xu, Yancheng Ye
Background: Solitary fibrous tumor of the pleura (SFTP) is a rare pleural neoplasm arising from mesenchymal cells, accounting for <5% of pleural neoplasms. Approximately 10% of cases of SFTP demonstrate malignant potential, leading to local recurrence after radical surgery and subsequent metastasis. Methods: A large malignant-like mass was found in the left thoracic cavity of a 61-year-old woman. Following radical resection of the mass, the patient was diagnosed with malignant SFTP by histologic and immunohistochemical analyses...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/30214111/first-report-of-the-isolation-of-nocardia-thailandica-from-the-bronchoalveolar-lavage-of-a-patient-in-iran
#20
Samaneh Bourbour, Masoud Keikha, Jamshid Faghri
Nocardiae are Gram-positive, filamentous, aerobic, relatively slow-growing, and weakly acid-fast bacteria which cause nocardiosis in humans. We describe a 53-year-old patient with chronic bronchitis referred to Al-Zahra Hospital, Isfahan. A bronchial washing sample was taken from the patient. A Nocardia -like microorganism was detected in microscopic evaluation. Based on the phenotypic and 16S rRNA gene sequencing, the isolate was identified as Nocardia thailandica . The patient was treated with trimethoprim-sulfamethoxazole and linezolid...
September 2018: Iranian Journal of Medical Sciences
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