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Gene function prediction

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https://www.readbyqxmd.com/read/28822034/microrna-expression-target-genes-and-signaling-pathways-in-infants-with-a-ventricular-septal-defect
#1
Hui Chai, Zhaoyuan Yan, Ke Huang, Yuanqing Jiang, Lin Zhang
This study aimed to systematically investigate the relationship between miRNA expression and the occurrence of ventricular septal defect (VSD), and characterize the miRNA target genes and pathways that can lead to VSD. The miRNAs that were differentially expressed in blood samples from VSD and normal infants were screened and validated by implementing miRNA microarrays and qRT-PCR. The target genes regulated by differentially expressed miRNAs were predicted using three target gene databases. The functions and signaling pathways of the target genes were enriched using the GO database and KEGG database, respectively...
August 18, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28822014/functional-igf1r-variant-predicts-breast-cancer-risk-in-women-with-preeclampsia-in-california-teachers-study
#2
Mark J Powell, Julie Von Behren, Susan Neuhausen, Peggy Reynolds, Christopher C Benz
PURPOSE: Hypertension in pregnancy has been associated with decreased future risk of breast cancer in many but not all studies. In the Marin Women's Study, pregnancy-induced hypertension was shown to interact with the T allele of a functional IGF1R gene variant, rs2016347, to result in lower breast density, as well as decreased breast cancer risk. Our objective was to explore these findings in a larger sample of women from the California Teachers Study (CTS). METHODS: The CTS cohort consists of over 130,000 female educators...
August 18, 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28821731/stability-in-metabolic-phenotypes-and-inferred-metagenome-profiles-before-the-onset-of-colitis-induced-inflammation
#3
M Glymenaki, A Barnes, S O' Hagan, G Warhurst, A J McBain, I D Wilson, D B Kell, K J Else, S M Cruickshank
Inflammatory bowel disease (IBD) is associated with altered microbiota composition and metabolism, but it is unclear whether these changes precede inflammation or are the result of it since current studies have mainly focused on changes after the onset of disease. We previously showed differences in mucus gut microbiota composition preceded colitis-induced inflammation and stool microbial differences only became apparent at colitis onset. In the present study, we aimed to investigate whether microbial dysbiosis was associated with differences in both predicted microbial gene content and endogenous metabolite profiles...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821552/differences-in-temperature-and-water-chemistry-shape-distinct-diversity-patterns-in-thermophilic-microbial-communities
#4
Cecilia M Chiriac, Edina Szekeres, Knut Rudi, Andreea Baricz, Adriana Hegedus, Nicolae Dragoş, Cristian Coman
This study presents the biodiversity and ecology of microbial mats developed in thermal gradients (20-65 °C) in the surroundings of three drillings (CH, CI, MB) tapping a hyperthermal aquifer from Romania. Using a metabarcoding approach, 16S rRNA genes were sequenced from both DNA and RNA transcripts (cDNA) and compared. The relationships between the microbial diversity and the physico-chemical factors were explored. Additionally, the cDNA data was used for in silico functionality predictions, bringing new insights into the functional potential and dynamics of these communities...
August 18, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28821550/crystal-structure-of-the-tetr-family-repressor-alkx-from-dietzia-sp-dq12-45-1b-implicated-in-biodegradation-of-n-alkanes
#5
Jie-Liang Liang, Yuan Gao, Zheng He, Yong Nie, Meng Wang, Jing-Hong JiangYang, Xuejun C Zhang, Wen-Sheng Shu, Xiao-Lei Wu
n-Alkanes are ubiquitous in nature and are widely used by microorganisms as carbon sources. Alkane hydroxylation by alkane monooxygenases is a critical step in the aerobic biodegradation of n-alkanes, which plays important roles in natural alkane attenuation and is used in industrial and environmental applications. The alkane oxidation operon, alkW1-alkX, in an alkane-degrading strain Dietzia sp. DQ12-45-1b, is negatively auto-regulated by the TetR family repressor, AlkX, via a product positive feedback mechanism...
August 18, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28821014/efficient-and-accurate-causal-inference-with-hidden-confounders-from-genome-transcriptome-variation-data
#6
Lingfei Wang, Tom Michoel
Mapping gene expression as a quantitative trait using whole genome-sequencing and transcriptome analysis allows to discover the functional consequences of genetic variation. We developed a novel method and ultra-fast software Findr for higly accurate causal inference between gene expression traits using cis-regulatory DNA variations as causal anchors, which improves current methods by taking into consideration hidden confounders and weak regulations. Findr outperformed existing methods on the DREAM5 Systems Genetics challenge and on the prediction of microRNA and transcription factor targets in human lymphoblastoid cells, while being nearly a million times faster...
August 18, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28820917/whole-exome-sequencing-of-lacrimal-gland-adenoid-cystic-carcinoma
#7
David W Sant, Wensi Tao, Matthew G Field, Daniel Pelaez, Ke Jin, Anthony Capobianco, Sander R Dubovy, David T Tse, Gaofeng Wang
Purpose: To identify genomic mutations in lacrimal gland adenoid cystic carcinoma (LGACC) samples from patients. Methods: Genomic DNA was extracted from LGACC specimens. Whole exome sequencing (exome-seq) was conducted to screen for mutations. Capillary sequencing was performed to verify mutations in genes shared by multiple samples. Luciferase assays were used to evaluate functional consequences of NOTCH1 mutations. Results: The mutation profile of LGACC was complicated...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28819396/expression-and-significances-of-g-protein-coupled-receptor-kinase-3-in-hepatocellular-carcinoma
#8
Ye Jin, Zhi-Yong Liang, Wei-Xun Zhou, Li Zhou
Objective: To investigate expression, clinical, pathologic and prognostic significances of G-protein-coupled receptor kinase 3 (GRK3) in hepatocellular carcinoma (HCC). Materials and Methods: Expression of GRK3 was detected using Western blotting and tissue microarray-based immunohistochemical staining in 8 and 395 patients (training set: n=164; validation set: n=231) with HCC underwent hepatectomy, respectively. GRK3 expression and its associations with cliniopathologic variables and tumor-specific survival were evaluated...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28819071/genetic-and-non-genetic-factors-associated-with-protein-abundance-of-flavin-containing-monooxygenase-3-in-human-liver
#9
Meijuan Xu, Deepak Kumar Bhatt, Catherine K Yeung, Katrina G Claw, Amarjit S Chaudhry, Andrea Gaedigk, Robin E Pearce, Ulrich Broeckel, Roger Gaedigk, Debbie Nickerson, Erin Schuetz, Allan E Rettie, Steven Leeder, Kenneth E Thummel, Bhagwat Prasad
Hepatic flavin-containing monooxygenase 3 (FMO3) metabolizes a broad array of nucleophilic heteroatom (e.g., N or S)-containing xenobiotics (e.g., amphetamine, sulindac, benzydamine, ranitidine, tamoxifen, nicotine, and ethioniamide), as well as endogenous compounds (e.g., catecholamine and trimethylamine). To predict the effect of genetic and non-genetic factors on the hepatic metabolism of FMO3 substrates, we quantified FMO3 protein abundance in human liver microsomes (HLM; n=445) by LC-MS/MS proteomics. Genotyping/gene-resequencing, mRNA expression, and functional activity (with benzydamine as a probe substrate) of FMO3 were also performed...
August 17, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28818860/the-chickpea-early-flowering-1-efl1-locus-is-an-ortholog-of-arabidopsis-elf3
#10
Stephen Ridge, Amit Deokar, Robyn Lee, Ketema Daba, Richard C Macknight, James L Weller, Bunyamin Tar'an
In climates that experience short growing seasons due to drought, heat or end-of-season frost, early flowering is a highly desirable trait for chickpeas. In this study, we mapped, sequenced and characterized Efl1, an ortholog of Arabidopsis ELF3 that confers early flowering in chickpea. In a RIL population derived from a cross between CDC Frontier and ICCV 96029, this gene was mapped to the site of a QTL on Ca5 that explained 59% of flowering time variation under SD. Sequencing of ELF3 in ICCV 96029 revealed an 11-bp deletion in the first exon that was predicted to result in a premature stop codon...
August 17, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28818616/molecular-insights-of-two-stat1-variants-from-rock-bream-oplegnathus-fasciatus-and-their-transcriptional-regulation-in-response-to-pathogenic-stress-interleukin-10-and-tissue-injury
#11
S D N K Bathige, Navaneethaiyer Umasuthan, G I Godahewa, William Shanthakumar Thulasitha, J D H E Jayasinghe, Qiang Wan, Jehee Lee
Signal transducers and activators of transcription 1 (STAT1) is critically involved in mediating cytokine-driven signaling, and triggers the transcription of target genes to activate cellular functions. Although the structural and functional aspects of STAT members have been well described in mammals, only limited information is available for the STAT genes in teleost fishes. In the present study, two variants of STAT1 genes (RbSTAT1 and RbSTAT1L) were identified from rock bream and characterized at the cDNA and genomic sequence levels...
August 14, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28818512/ploc-meuk-predict-subcellular-localization-of-multi-label-eukaryotic-proteins-by-extracting-the-key-go-information-into-general-pseaac
#12
Xiang Cheng, Xuan Xiao, Kuo-Chen Chou
Many efforts have been made in predicting the subcellular localization of eukaryotic proteins, but most of the existing methods have the following two limitations: (1) their coverage scope is less than ten locations and hence many organelles in an eukaryotic cell cannot be covered, and (2) they can only be used to deal with single-label systems in which each of the constituent proteins has one and only one location. Actually, proteins with multiple locations are particularly interesting since they may have some exceptional functions very important for in-depth understanding the biological process in a cell and for selecting drug target as well...
August 14, 2017: Genomics
https://www.readbyqxmd.com/read/28818390/three-novel-recessive-mutations-in-lama2-syne1-and-ttn-are-identified-in-a-single-case-with-congenital-muscular-dystrophy
#13
Liang Wu, Bingwu Xiang, Huan Zhang, Xiaoxiao He, Celina Shih, Xiang Chen, Tao Cai
Congenital muscular dystrophies (CMD) are a group of heterogeneous disorders. Here, targeted next generation sequencing of 168 CMD-associated genes was performed on collected clinic samples to identify potential mutations. A loss-of-function mutation (c.4676-4682delGCTGCAA; p.Cys1560Thrfs*33) of the LAMA2 gene in a consanguineous family was identified and confirmed by Sanger sequencing. The second recessive mutation in SYNE1 (c.2881C>T; p.Arg961Trp) was found in the SAP motif, which was predicted to be involved in chromosomal organization...
July 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28818040/in-silico-prediction-and-characterization-of-secondary-metabolite-biosynthetic-gene-clusters-in-the-wheat-pathogen-zymoseptoria-tritici
#14
Timothy Cairns, Vera Meyer
BACKGROUND: Fungal pathogens of plants produce diverse repertoires of secondary metabolites, which have functions ranging from iron acquisition, defense against immune perturbation, to toxic assaults on the host. The wheat pathogen Zymoseptoria tritici causes Septoria tritici blotch, a foliar disease which is a significant threat to global food security. Currently, there is limited knowledge of the secondary metabolite arsenal produced by Z. tritici, which significantly restricts mechanistic understanding of infection...
August 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28817687/morphologic-phenotypic-and-transcriptomic-characterization-of-classically-and-alternatively-activated-canine-blood-derived-macrophages-in-vitro
#15
Franziska Heinrich, Annika Lehmbecker, Barbara B Raddatz, Kristel Kegler, Andrea Tipold, Veronika M Stein, Arno Kalkuhl, Ulrich Deschl, Wolfgang Baumgärtner, Reiner Ulrich, Ingo Spitzbarth
Macrophages are a heterogeneous cell population playing a pivotal role in tissue homeostasis and inflammation, and their phenotype strongly depends on the micromilieu. Despite its increasing importance as a translational animal model for human diseases, there is a considerable gap of knowledge with respect to macrophage polarization in dogs. The present study comprehensively investigated the morphologic, phenotypic, and transcriptomic characteristics of unstimulated (M0), M1- (GM-CSF, LPS, IFNγ-stimulated) and M2- (M-CSF, IL-4-stimulated)-polarized canine blood-derived macrophages in vitro...
2017: PloS One
https://www.readbyqxmd.com/read/28817611/the-directed-migration-of-gonadal-distal-tip-cells-in-caenorhabditis-elegans-requires-ngat-1-a-%C3%A3-1-4-n-acetylgalactosaminyltransferase-enzyme
#16
Joseph Veyhl, Robert J Dunn, Wendy L Johnston, Alexa Bennett, Lijia W Zhang, James W Dennis, Harry Schachter, Joseph G Culotti
Glycoproteins such as growth factor receptors and extracellular matrix have well-known functions in development and cancer progression, however, the glycans at sites of modification are often heterogeneous molecular populations which makes their functional characterization challenging. Here we provide evidence for a specific, discrete, well-defined glycan modification and regulation of a stage-specific cell migration in Caenorhabditis elegans. We show that a chain-terminating, putative null mutation in the gene encoding a predicted β1,4-N-acetylgalactosaminyltransferase, named ngat-1, causes a maternally rescued temperature sensitive (ts) defect in the second phase of the three phase migration pattern of the posterior, but not the anterior, hermaphrodite Distal Tip Cell (DTC)...
2017: PloS One
https://www.readbyqxmd.com/read/28817402/the-importance-of-natural-killer-cell-killer-immunoglobulin-like-receptor-mismatch-in-transplant-outcomes
#17
Kate Stringaris, Austin J Barrett
PURPOSE OF REVIEW: In recent years, the rules of engagement between natural killer (NK) cells and their targets have become better defined with the identification of an array of NK surface molecules, notably the killer immunoglobulin-like (KIR) receptors and their ligands on target cells through which signals of activation or suppression of NK function are mediated. After allogeneic stem cell transplantation (SCT), the opportunity for NK cell activation can occur both in human leucocyte antigen (HLA) matched and HLA mismatched pairs...
August 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28815794/finding-the-candidate-sequence-variants-for-diagnosis-of-hypertrophic-cardiomyopathy-in-east-slovak-patients
#18
Michaela Zigova, Jarmila Bernasovska, Iveta Boronova, Marta Mydlarova Blascakova, Jan Kmec
BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58...
August 16, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28815458/backbone-and-side-chain-resonance-assignments-of-ca-2-4-calmodulin-bound-to-beta-calcineurin-a-cambd-peptide
#19
C Andrew Fowler, Maria F Núñez Hernandez, Susan E O'Donnell, Liping Yu, Madeline A Shea
Calcineurin (CaN) is a heterodimeric and highly conserved serine/threonine phosphatase (PP2B) that plays a critical role in coupling calcium signals to physiological processes including embryonic cardiac development, NF-AT-regulated gene expression in immune responses, and apoptosis. The catalytic subunit (CaNA) has three isoforms (α, β, and γ,) in humans and seven isoforms in Paramecium. In all eukaryotes, the EF-hand protein calmodulin (CaM) regulates CaN activity in a calcium-dependent manner. The N- and C-domains of CaM (CaMN and CaMC) recognize a CaM-binding domain (CaMBD) within an intrinsically disordered region of CaNA that precedes the auto-inhibitory domain (AID) of CaNA...
August 16, 2017: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/28813705/the-lncrna-tug1-ezh2-axis-promotes-pancreatic-cancer-cell-proliferation-migration-and-emt-phenotype-formation-through-sponging-mir-382
#20
Liang Zhao, Hongwei Sun, Hongru Kong, Zongjing Chen, Bicheng Chen, Mengtao Zhou
BACKGROUND/AIMS: Pancreatic carcinoma (PC) is the one of the most common and malignant cancers worldwide. LncRNA taurine upregulated gene 1 (TUG1) was initially identified as a transcript upregulated by taurine, and the abnormal expression of TUG1 has been reported in many cancers. However, the biological role and molecular mechanism of TUG1 in PC still needs further investigation. METHODS: Quantitative real-time PCR (qRT-PCR) was performed to measure the expression of TUG1 in PC cell lines and tissues...
August 15, 2017: Cellular Physiology and Biochemistry
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