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https://www.readbyqxmd.com/read/28749435/allelic-complexity-in-long-qt-syndrome-a-family-case-study
#1
Alberto Zullo, Giulia Frisso, Nicola Detta, Berardo Sarubbi, Emanuele Romeo, Angela Cordella, Carlos G Vanoye, Raffaele Calabrò, Alfred L George, Francesco Salvatore
Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants...
July 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28749367/genome-wide-association-study-of-susceptibility-to-particulate-matter-associated-qt-prolongation
#2
Rahul Gondalia, Christy L Avery, Melanie D Napier, Raúl Méndez-Giráldez, James D Stewart, Colleen M Sitlani, Yun Li, Kirk C Wilhelmsen, Qing Duan, Jeffrey Roach, Kari E North, Alexander P Reiner, Zhu-Ming Zhang, Lesley F Tinker, Jeff D Yanosky, Duanping Liao, Eric A Whitsel
BACKGROUND: Ambient particulate matter (PM) air pollution exposure has been associated with increases in QT interval duration (QT). However, innate susceptibility to PM-associated QT prolongation has not been characterized. OBJECTIVE: To characterize genetic susceptibility to PM-associated QT prolongation in a multi-racial/ethnic, genome-wide association study (GWAS). METHODS: Using repeated electrocardiograms (1986-2004), longitudinal data on in diameter (), and generalized estimating equations methods adapted for low-prevalence exposure, we estimated approximately interactions among nine Women's Health Initiative clinical trials and Atherosclerosis Risk in Communities Study subpopulations (), then combined subpopulation-specific results in a fixed-effects, inverse variance-weighted meta-analysis...
June 8, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28749362/incremental-codebook-adaptation-for-visual-representation-and-categorization
#3
Chunjie Zhang, Jian Cheng, Qi Tian
The bag-of-visual-words model is widely used for visual content analysis. For visual data, the codebook plays an important role for efficient representation. However, the codebook has to be relearned with the changes of training images. Once the codebook is changed, the encoding parameters of local features have to be recomputed. To alleviate this problem, in this paper, we propose an incremental codebook adaptation method for efficient visual representation. Instead of learning a new codebook, we gradually adapt a prelearned codebook using new images in an incremental way...
July 25, 2017: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28749338/fast-two-photon-imaging-of-subcellular-voltage-dynamics-in-neuronal-tissue-with-genetically-encoded-indicators
#4
Simon Chamberland, Helen H Yang, Michael M Pan, Stephen W Evans, Sihui Guan, Mariya Chavarha, Ying Yang, Charleen Salesse, Haodi Wu, Joseph C Wu, Thomas R Clandinin, Katalin Toth, Michael Z Lin, François St-Pierre
Monitoring voltage dynamics in defined neurons deep in the brain is critical for unraveling the function of neuronal circuits, but is challenging due to the limited performance of existing tools. In particular, while genetically encoded voltage indicators have shown promise for optical detection of voltage transients, many indicators exhibit low sensitivity when imaged under two-photon illumination. Previous studies thus fell short of visualizing voltage dynamics in individual neurons in single trials. Here, we report ASAP2s, a novel voltage indicator with improved sensitivity...
July 27, 2017: ELife
https://www.readbyqxmd.com/read/28749328/desulfovibrio-da2_cueo-is-a-novel-multicopper-oxidase-with-cuprous-ferrous-and-phenol-oxidase-activity
#5
Stefano Mancini, Ranjeet Kumar, Veena Mishra, Marc Solioz
Desulfovibrio sp. A2 is a novel Gram-negative sulfate-reducing bacterium that was isolated from sediments of the Norilsk mining/smelting area in Russia. The organism possesses a monocistronic operon encoding a 71 kDa periplasmic multicopperoxidase, which we call DA2_CueO. Histidine-tagged DA2_CueO expressed from a plasmid in Escherichia coli and purified by Ni-NTA affinity chromatography oxidizes Cu+ and Fe2+, and exhibits phenol oxidase activity with 2,2-azino-bis(3-ethylbenzthiazoline-6-sulphonic acid), 2,3-dihydroxybenzoic acid and 2,6-dimethoxyphenol as substrates, using O2 as the oxidant...
July 28, 2017: Microbiology
https://www.readbyqxmd.com/read/28749324/investigation-of-the-fim1-putative-pilus-locus-of-streptococcus-equi-subspecies-equi
#6
Karen Frances Steward, Carl Robinson, Duncan J Maskell, Chiara Nenci, Andrew Stephen Waller
The Gram-positive bacterium Streptococcus equi subspecies equi (S. equi) is the causative agent of strangles, among the most frequently diagnosed infectious diseases of horses worldwide. Genome analysis of S. equi strain 4047 (Se4047) identified a putative operon, Fim1, with similarity to the pilus loci of other Gram-positive bacteria. The Fim1 locus was present in all strains of S. equi and its close relative S. equi subspecies zooepidemicus (S. zooepidemicus) that have been studied to date. In this study we provide evidence that the putative structural pilus proteins, SEQ_0936 and CNE, are produced on the cell surface during in vitro growth and in vivo infection...
July 28, 2017: Microbiology
https://www.readbyqxmd.com/read/28749240/epigenetic-dysregulation-of-the-erythropoietic-transcription-factor-klf1-and-the-beta-like-globin-locus-in-juvenile-myelomonocytic-leukemia
#7
Silvia Fluhr, Christopher Felix Krombholz, Angelina Meier, Thomas Epting, Oliver Mücke, Christoph Plass, Charlotte M Niemeyer, Christian Flotho
Increased levels of fetal hemoglobin (HbF) are a hallmark of more than half of the children diagnosed with juvenile myelomonocytic leukemia (JMML). Elevated HbF levels in JMML are associated with DNA hypermethylation of distinct gene promoter regions in leukemic cells. Since the regulation of globin gene transcription is known to be under epigenetic control, we set out to study the relation of DNA methylation patterns at β-/γ-globin promoters, mRNA and protein expression of globins, and epigenetic modifications of genes encoding the globin-regulatory transcription factors BCL11A and KLF1 in nucleated erythropoietic precursor cells of patients with JMML...
July 27, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28749145/molecular-interactions-control-quantum-chain-reactions-toward-distinct-photoresponsive-properties-of-molecular-crystals
#8
Yanjun Gong, Yifan Zhang, Wei Xiong, Ke Zhang, Yan-Ke Che, Jincai Zhao
In this work, we fabricated four diphenylcyclopropenone (DPCP) crystals, which involved various molecular interactions encoded in individual molecular structures 1-4. Based on crystalline structural analysis and photoresponsive characterization of the resultant single-crystal microribbons 1-4, we demonstrated that the magnitude of molecular interactions could effectively control the quantum chain reaction and the photoresponsive property of the DPCP crystals. The microribbons 1 and 2 having weak molecular interactions exhibited an efficient chain reaction and large mechanical photoresponses (i...
July 27, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28748934/synergy-of-synthesis-computation-and-nmr-reveals-correct-baulamycin-structures
#9
Jingjing Wu, Paula Lorenzo, Siying Zhong, Muhammad Ali, Craig P Butts, Eddie L Myers, Varinder K Aggarwal
Small-molecule, biologically active natural products continue to be our most rewarding source of, and inspiration for, new medicines. Sometimes we happen upon such molecules in minute quantities in unique, difficult-to-reach, and often fleeting environments, perhaps never to be discovered again. In these cases, determining the structure of a molecule-including assigning its relative and absolute configurations-is paramount, enabling one to understand its biological activity. Molecules that comprise stereochemically complex acyclic and conformationally flexible carbon chains make such a task extremely challenging...
July 26, 2017: Nature
https://www.readbyqxmd.com/read/28748913/d-chiro-inositol-effectively-attenuates-cholestasis-in-bile-duct-ligated-rats-by-improving-bile-acid-secretion-and-attenuating-oxidative-stress
#10
Shuang-Shuang Zhao, Na-Ren Li, Wu-Li Zhao, Hong Liu, Mao-Xu Ge, Yi-Xuan Zhang, Long-Yin Zhao, Xue-Fu You, Hong-Wei He, Rong-Guang Shao
Cholestatic liver diseases are important causes of liver cirrhosis and liver transplantation, but few drugs are available for treatment. D-chiro-inositol (DCI), an isomer of inositol found in many Leguminosae plants and in animal viscera, is used clinically for the treatment of polycystic ovary syndrome (PCOS) and diabetes mellitus. In this study, we investigated whether DCI exerted an anti-cholestatic effect and its underlying mechanisms. A cholestatic rat model was established via bile duct ligation (BDL)...
July 27, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28748911/a-novel-and-quick-pcr-based-method-to-genotype-mice-with-a-leptin-receptor-mutation-db-db-mice
#11
Bao-Yu Peng, Qiang Wang, Yan-Hong Luo, Jian-Feng He, Tao Tan, Hua Zhu
db/db mice is one of most widely used animal models in studying the cellular and molecular mechanisms of metabolic disorders, such as diabetes, hyperlipidemia, and obesity. The mice carry spontaneous point mutations in the gene encoding the leptin receptor, leading to leptin receptor inactivation. Since homozygous db/db mice are sterile, the maintenance of db/db mice requires breeding between heterozygous pairs, which makes genotyping essential for the identification of offspring. The aim of this study was to develop a quick and highly repeatable method for genotyping db/db mice, which comprised only three simple steps: Genomic DNA is extracted from either tail tips or ear notches via alkaline lysis (∼20 min); Samples are then subjected to tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) using specially designed and validated primer sets (∼1...
July 27, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28748759/targeting-kinase-activating-genetic-lesions-to-improve-therapy-of-pediatric-acute-lymphoblastic-leukemia
#12
Franca Raffaella, Natasa Karas Kuzelicki, Claudio Sorio, Eleonora Toffoletti, Oksana Montecchini, Alice Poropat, Marco Rabusin, Debora Curci, Dino Paladin, Gabriele Stocco, Giuliana Decorti
Acute lymphoblastic leukemia (ALL) is the most common hematologic malignancy in children, characterized by an abnormal proliferation of immature lymphoid cells. Thanks to risk-adapted combination chemotherapy treatments currently used, survival at 5 years has reached 90%. ALL is a heterogeneous disease from a genetic point of view: patients' lymphoblasts may harbor in fact several chromosomal alterations, some of which have prognostic and therapeutic value. Of particular importance is the translocation t(9;22)(q34;q11...
July 27, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28748751/update-on-nitazoxanide-a-multifunctional-chemotherapeutic-agent
#13
Anshul Shakya, Hans Raj Bhat, Surjit Kumar Ghosh
The thiazolide nitazoxanide (NTZ) is a broad-spectrum anti-infective drug that adversely affects viability, growth, and proliferation of a range of extracellular and intracellular protozoan, helminths, anaerobic and microaerophilic bacteria, and viruses. Current review compiled the potential chemotherapeutic efficacy of NTZ against a variety of such disease-causing macro and/or micro-organisms as well as neoplastic cells. The most accepted anti-infective mechanism of NTZ involves impairment of the energy metabolism in anaerobic pathogens by inhibition of the pyruvate: ferredoxin/flavodoxin oxidoreductase (PFOR)...
July 27, 2017: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/28748694/bilayered-nanoparticles-with-sequential-release-of-vegf-gene-and-paclitaxel-for-restenosis-inhibition-in-atherosclerosis
#14
Xiaowei Zhu, Hongzhi Xie, Xiaoyu Liang, Xuanling Li, Jianwei Duan, Yongxia Chen, Ziying Yang, Chao Liu, Cuiwei Wang, Hailing Zhang, Quan Fang, Hongfan Sun, Chen Li, Yongjun Li, Chun Wang, Cunxian Song, Yong Zeng, Jing Yang
Complete re-endothelialization followed by inhibition of smooth muscle cell proliferation is considered an effective therapeutic option to prevent restenosis. We have designed poly(lactide-co-glycolide)-loaded bilayered nanoparticles (NPs) with the ability to sequentially release VEGF-encoding plasmids from the outer layer and paclitaxel (PTX) from the core to promote endothelial regeneration while also prevent restenosis. Comparing with conventional NPs, which release VEGF plasmid and PTX simultaneously, we expect that the bilayered NPs could release the VEGF plasmid more rapidly followed by a delayed release of PTX, resulting in efficient VEGF gene transfection, which ideally could promote re-endothelialization while inhibit excessive smooth muscle cell growth...
July 27, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28748650/autopsy-findings-in-epg5-related-vici-syndrome-with-antenatal-onset
#15
Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel, Heinz Jungbluth
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748551/identification-of-a-dimeric-kdg-aldolase-from-agrobacterium-tumefaciens
#16
Tatiana P Soares da Costa, Madhvi Patel, Sebastien Desbois, Ruchi Gupta, Pierre Faou, Matthew A Perugini
Agrobacterium tumefaciens is a Gram-negative bacterium and causative agent of Crown Gall disease that infects a variety of economically-important plants. The annotated A. tumefaciens genome contains 10 putative dapA genes, which code for dihydrodipicolinate synthase (DHDPS). However, we have recently demonstrated that only one of these genes (dapA7) encodes a functional DHDPS. The function of the other nine putative dapA genes is yet to be determined. Here, we demonstrate using bioinformatics that the product of the dapA5 gene (DapA5) possesses all the catalytic residues canonical to 2-keto-3-deoxygluconate (KDG) aldolase, which is a class I aldolase involved in glucose metabolism...
July 27, 2017: Proteins
https://www.readbyqxmd.com/read/28748351/pig-tissue-factor-pathway-inhibitor-%C3%AE-fusion-immunoglobulin-inhibits-pig-tissue-factor-activity-in-human-plasma-moderately-more-efficiently-than-the-human-counterpart
#17
Chang-Yong Choi, Yeon-Hui Kim, Joonbeom Bae, Suk Jun Lee, Hyun Kyung Kim, Chung-Gyu Park, Taehoon Chun
OBJECTIVE: To determine the efficacy of soluble pig tissue factor pathway inhibitor fusion immunoglobulin (TFPI-Ig) in blocking pig to human xenogeneic blood coagulation. RESULTS: To generate pig TFPI-Ig or human TFPI-Ig, expression vector containing cDNA encoding pig TFPIα or human TFPIα combined with human constant Ig heavy chain region was cloned and introduced into CHO cells. After purification of pig TFPI-Ig and human TFPI-Ig, the inhibition of each recombinant protein on pig tissue factor (TF)-mediated blood coagulation was examined in human plasma...
July 26, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28748312/the-extended-object-grasping-network
#18
REVIEW
Marzio Gerbella, Stefano Rozzi, Giacomo Rizzolatti
Grasping is the most important skilled motor act of primates. It is based on a series of sensorimotor transformations through which the affordances of the objects to be grasped are transformed into appropriate hand movements. It is generally accepted that a circuit formed by inferior parietal areas AIP and PFG and ventral premotor area F5 represents the core circuit for sensorimotor transformations for grasping. However, selection and control of appropriate grip should also depend on higher-order information, such as the meaning of the object to be grasped, and the overarching goal of the action in which grasping is embedded...
July 26, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28748272/a-small-cellulose-binding-domain-protein-cbd1-in-phytophthora-is-highly-variable-in-the-non-binding-amino-terminus
#19
Richard W Jones, Frances G Perez
The small cellulose-binding-domain protein CBD1 is tightly bound to the cellulosic cell wall of the plant pathogenic stramenopile Phytophthora infestans. Transgene expression of the protein in potato plants also demonstrated binding to plant cell walls. A study was undertaken using 47 isolates of P. infestans from a worldwide collection, along with 17 other Phytophthora species and a related pathogen Plasmopara halstedii, to determine if the critical cell wall protein is subject to amino acid variability. Within the amino acid sequence of the secreted portion of CBD 1, encoded by the P...
July 26, 2017: Current Microbiology
https://www.readbyqxmd.com/read/28748147/confirmation-that-mat1a-p-ala259val-mutation-causes-autosomal-dominant-hypermethioninemia
#20
Michael J Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R Ferreira
Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a case of hypermethioninemia caused by the p...
December 2017: Molecular Genetics and Metabolism Reports
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