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https://www.readbyqxmd.com/read/28641396/geneticization-in-mim-omim%C3%A2-exploring-historic-and-epistemic-drivers-of-contemporary-understandings-of-genetic-disease
#1
Rachel A Ankeny
Prior to the genomic sequencing era, the bible for those working in clinical genetics was McKusick's Mendelian Inheritance in Man (MIM), which appeared in multiple editions between the 1960s and the late 1990s. This catalogue was organized according to general patterns of inheritance and focused on phenotypes. Beginning in the mid-1980s, it was replaced by Online Mendelian Inheritance in Man (OMIM®), a continuously updated catalogue documenting molecular relationships between genetic variation and phenotypic expression...
June 21, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/28641268/newgoa-predicting-new-go-annotations-of-proteins-by-bi-random-walks-on-a-hybrid-graph
#2
Guoxian Yu, Guangyuan Fu, Jun Wang, Yingwen Zhao
A remaining key challenge of modern biology is annotating the functional roles of proteins. Various computational models have been proposed for this challenge. Most of them assume the annotations of annotated proteins are complete. But in fact, many of them are incomplete. We proposed a method called NewGOA to predict new Gene Ontology (GO) annotations for incompletely annotated proteins and for completely un-annotated ones. NewGOA employs a hybrid graph, composed of two types of nodes (proteins and GO terms), to encode interactions between proteins, hierarchical relationships between terms and available annotations of proteins...
June 15, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/28641237/tunable-excited-state-intramolecular-proton-transfer-reactions-with-nh-or-oh-as-a-proton-donor-a-theoretical-investigation
#3
Yuanyuan Li, Keke Wen, Songyan Feng, Huijuan Yuan, Beibei An, Qiuling Zhu, Xugeng Guo, Jinglai Zhang
Excited-state intramolecular proton transfer (ESIPT) reactions occurring in the S1 state for five molecules, which possess five/six-membered ring intramolecular NH···N or OH···N hydrogen bonds bearing quinoline or 2-phenylpyridine moiety, have been described in detail by the time-dependent density functional theory (TD-DFT) approach using the B3LYP hybrid functional. For the five molecules, the constrained potential energy profiles along the ESIPT reactions show that proton transfer is barrierless in molecules possessing six-membered ring intramolecular H-bonds, which is smoother than that with certain barriers in five-membered ring H-bonding systems...
June 15, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28641222/theoretical-evaluation-on-selective-adsorption-characteristics-of-alkali-metal-based-sorbents-for-gaseous-oxidized-mercury
#4
Hongjian Tang, Yufeng Duan, Chun Zhu, Tianyi Cai, Chunfeng Li, Liang Cai
Alkali metal-based sorbents are potential for oxidized mercury (Hg(2+)) selective adsorption but show hardly effect to elemental mercury (Hg(0)) in flue gas. Density functional theory (DFT) was employed to investigate the Hg(0) and HgCl2 adsorption mechanism over alkali metal-based sorbents, including calcium oxide (CaO), magnesium oxide (MgO), potassium chloride (KCl) and sodium chloride (NaCl). Hg(0) was found to weakly interact with CaO (001), MgO (001), KCl (001) and NaCl (001) surfaces while HgCl2 was effectively adsorbed on top-O and top-Cl sites...
June 12, 2017: Chemosphere
https://www.readbyqxmd.com/read/28641144/impact-of-saccharomyces-cerevisiae-and-torulaspora-delbrueckii-starter-cultures-on-cocoa-beans-fermentation
#5
Simonetta Visintin, Lacerda Ramos, Nara Batista, Paola Dolci, Freitas Schwan, Luca Cocolin
Aim of this work was to study the impact of mixed cultures of Saccharomyces cerevisiae and Torulaspora delbrueckii and T. delbrueckii monoculture on the fermentation process conducted on two different cocoa hybrids, PS1319 and SJ02, in Bahia, Brazil. This was performed throughout studying physico-chemical changes during the fermentation process and analyzing volatile compounds and sensory analysis of chocolates. (GTG)5-PCR fingerprinting was used to type isolates at strain level allowing to assess the implantation of the starter cultures added...
June 7, 2017: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/28641004/performance-of-the-g0w0-method-in-predicting-the-electronic-gap-of-tio2-nanoparticles
#6
Ángel Morales-García, Rosendo Valero, Francesc Illas
Using a relativistic all-electron description and numerical atomic centered orbital basis set the performance of the G0W0 method on the electronic band gap of (TiO(2))n nanoparticles (n=1-20) is investigated. Results are presented for G0W0 on top of hybrid (PBE0 and a modified version with 12.5% of Fock exchange) functionals. The underestimation of the electronic band gap from Kohn-Sham orbital energies is corrected by the quasiparticle energies from G0W0 method which are consistent with the variational ΔSCF approach...
June 22, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28640915/physiological-and-genomic-features-of-a-novel-violacein-producing-bacterium-isolated-from-surface-seawater
#7
Yue-Hong Wu, Hong Cheng, Lin Xu, Xiong-Bin Jin, Chun-Sheng Wang, Xue-Wei Xu
Strains JW1T and JW3, isolated from surface seawater of the Arabian Sea, were subjected to polyphasic taxonomic analysis. Cells of both strains were Gram-stain-negative, aerobic, and rod-shaped. They formed violet pigment and produced violacein. On the basis of 16S rRNA gene sequence analysis, strains JW1T and JW3 showed high 16S rRNA gene sequence similarity with Pseudoalteromonas byunsanensis JCM12483T (98.2%), P. shioyasakiensis SE3T (97.8%), P. arabiensis JCM 17292T (97.3%), and P. gelatinilytica NH153T (97...
2017: PloS One
https://www.readbyqxmd.com/read/28640892/novel-resistance-to-cydia-pomonella-granulovirus-cpgv-in-codling-moth-shows-autosomal-and-dominant-inheritance-and-confers-cross-resistance-to-different-cpgv-genome-groups
#8
Annette J Sauer, Eva Fritsch, Karin Undorf-Spahn, Petr Nguyen, Frantisek Marec, David G Heckel, Johannes A Jehle
Commercial Cydia pomonella granulovirus (CpGV) products have been successfully applied to control codling moth (CM) in organic and integrated fruit production for more than 30 years. Since 2005, resistance against the widely used isolate CpGV-M has been reported from different countries in Europe. The inheritance of this so-called type I resistance is dominant and linked to the Z chromosome. Recently, a second form (type II) of CpGV resistance in CM was reported from a field population (NRW-WE) in Germany. Type II resistance confers reduced susceptibility not only to CpGV-M but to most known CpGV isolates and it does not follow the previously described Z-linked inheritance of type I resistance...
2017: PloS One
https://www.readbyqxmd.com/read/28640826/allele-specific-caps-marker-development-and-characterization-of-chalcone-synthase-gene-in-indian-mulberry-morus-spp-family-moraceae
#9
Vivek Arora, M K Ghosh, Soumili Pal, Gaurab Gangopadhyay
Chalcone synthase (CHS) is an essential enzyme in the phenylpropanoid pathway that catalyzes the first step in flavonoid biosynthesis in plants under diverse environmental stress. We have used CHS as a candidate gene in mulberry and developed Single Nucleotide Polymorphism (SNP) based co-dominant Cleaved Amplified Polymorphic Sequence (CAPS) marker associated with the CHS locus. The segregation pattern of the marker was studied in an F1 population derived from a hybridization program between two mulberry genotypes showing polymorphism for the CHS locus...
2017: PloS One
https://www.readbyqxmd.com/read/28640759/electroactive-%C3%AE-crystalline-phase-inclusion-and-photoluminescence-response-of-heat-controlled-spin-coated-pvdf-tio2-free-standing-nanocomposite-film-for-nanogenerator-and-active-nanosensor
#10
Md Mehebub Alam, Ayesha Sultana, Debabrata Sarkar, Dipankar Mandal
The electroactive β-phase is most desirable due to its highest piezo-, pyro- and ferro-electric properties in poly(vinylidene fluoride) (PVDF). Induction of β-phase is successfully accomplished in titanium dioxide (TiO2) nanoparticles (NPs) doped spin coated PVDF nanocomposite (PNC) films. The optimized yields of β-phase and homogeneous ultra-smooth free standing PNC film is utilized in mechanical energy harvesting application by fabricating a nanogenerator (NG) where the typical electrical poling step is not undertaken...
June 22, 2017: Nanotechnology
https://www.readbyqxmd.com/read/28640750/in-vivo-monitoring-of-infection-via-implantable-microsensors-a-pilot-study
#11
Andrej Ring, Heiko Sorg, Andreas Weltin, Daniel J Tilkorn, Jochen Kieninger, Gerald Urban, Jörg Hauser
The most common complication after implantation of foreign material is infection, leading to implant failure and severe patient discomfort. Smoldering-infections proceed inapparently and might not get verified by radiological diagnostics. Early identification of this type of infection might significantly reduce the rate of complications. Therefore, we manufactured a microsensor strip in a hybrid of thin-film and laminate technology in a wafer-level process. It comprises electrochemical, amperometric microsensors for glucose, oxygen and lactate as well as an integrated reference electrode...
June 22, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28640637/designing-transmitter-ligands-that-mediate-energy-transfer-between-semiconductor-nanocrystals-and-molecules
#12
Zhiyuan Huang, Ming Lee Tang
Molecular control of energy transfer is an attractive proposition because it allows chemists to synthetically tweak various kinetic and thermodynamic factors. In this Perspective, we examine energy transfer between semiconductor nano-crystals (NCs) and π-conjugated molecules, focusing on the transmitter ligand at the organic-inorganic interface. Efficient transfer of triplet excitons across this interface allows photons to be directed for effective use of the entire solar spectrum. For example, a photon upconversion system composed of semiconductor NCs as sensitizers, bound organic ligands as transmitters, and molecular annihilators has the advantage of large, tunable absorption cross-sections across the visible and near infrared wavelengths...
June 22, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28637350/structural-peculiarities-of-ion-conductive-organic-inorganic-polymer-composites-based-on-aliphatic-epoxy-resin-and-salt-of-lithium-perchlorate
#13
Liubov Matkovska, Maksym Iurzhenko, Yevgen Mamunya, Igor Tkachenko, Valeriy Demchenko, Volodymyr Synyuk, Andriy Shadrin, Gisele Boiteux
The article is concerned with hybrid amorphous polymers synthesized basing on epoxy oligomer of diglycide aliphatic ester of polyethylene glycol that was cured by polyethylene polyamine and lithium perchlorate salt. Structural peculiarities of organic-inorganic polymer composites were studied by differential scanning calorimetry, wide-angle X-ray spectra, infrared spectroscopic, scanning electron microscopy, elemental analysis, and transmission and reflective optical microscopy. On the one hand, the results showed that the introduction of LiClO4 salt into epoxy polymer leads to formation of the coordinative metal-polymer complexes of donor-acceptor type between central Li(+) ion and ligand...
December 2017: Nanoscale Research Letters
https://www.readbyqxmd.com/read/28637254/phylogeography-of-lionfishes-pterois-indicate-taxonomic-over-splitting-and-hybrid-origin-of-the-invasive-pterois-volitans
#14
Christie L Wilcox, Hiroyuki Motomura, Mizuki Matsunuma, Brian W Bowen
The lionfish is an iconic marine fish, and recently renowned for a disastrous introduction into the West Atlantic. Genetic surveys of the putative invaders (Pterois volitans and P. miles) in their natural Indo-Pacific range can illuminate both topics. Previous research indicated that P. volitans and P. miles are sister species that hybridize in the invasive range, but hybridization in the native range is unknown. Here we apply mtDNA COI and two nuclear introns (S7 RP1 and Gpd2) from 229 lionfish including the two invaders and two closely-related taxa (44 P...
June 16, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/28637176/dissociation-of-striatal-dopamine-and-tyrosine-hydroxylase-expression-from-aging-related-motor-decline-evidence-from-calorie-restriction-intervention
#15
Michael F Salvatore, Jennifer Terrebonne, Mark A Cantu, Tamara R McInnis, Katy Venable, Parker Kelley, Ella A Kasanga, Brian Latimer, Catherine L Owens, Brandon S Pruett, Yongmei Yu, Robert Luedtke, Michael J Forster, Nathalie Sumien, Donald K Ingram
The escalating increase in retirees living beyond their 8th decade brings increased prevalence of aging-related impairments, including locomotor impairment (Parkinsonism) which may affect ~50% of those reaching age 80, but has no confirmed neurobiological mechanism. Lifestyle strategies that attenuate motor decline, and its allied mechanisms, must be identified. Aging studies report little to moderate loss of striatal dopamine (DA) or tyrosine hydroxylase (TH) in nigrostriatal terminals, in contrast to ~70-80% loss associated with bradykinesia onset in Parkinson's disease...
June 20, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28637165/quantification-of-the-methane-concentration-using-anaerobic-oxidation-of-methane-coupled-to-extracellular-electron-transfer
#16
Yaohuan Gao, Hodon Ryu, Bruce E Rittmann, Abid Hussain, Hyung-Sool Lee
A biofilm anode acclimated with growth media containing acetate, then acetate+methane, and finally methane alone produced electrical current in a microbial electrochemical cell (MxC) fed with methane as the sole electron donor. Geobacter was the dominant genus for the bacterial domain (93%) in the biofilm anode, while methanogens (Methanocorpusculum labreanum and Methanosaeta concilii) accounted for 82% of the total archaeal clones in the biofilm. Fluorescence in situ hybridization (FISH) imaging clearly showed a biofilm of mixed bacteria and archaea, suggesting a syntrophic interaction between them for performing anaerobic oxidation of methane (AOM) in the biofilm anode...
June 13, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/28637019/clinicopathological-characteristics-of-ros1-and-ret-rearranged-nsclc-in-caucasian-patients-data-from-a-cohort-of-713-non-squamous-nsclc-lacking-kras-egfr-her2-braf-pik3ca-alk-alterations
#17
Frédéric Dugay, Francisco Llamas-Gutierrez, Marjory Gournay, Sarah Medane, François Mazet, Dan Christian Chiforeanu, Emmanuelle Becker, Régine Lamy, Hervé Léna, Nathalie Rioux-Leclercq, Marc-Antoine Belaud-Rotureau, Florian Cabillic
Targeted therapies have substantially changed the management of non-small cell lung cancer (NSCLC) patients with driver oncogenes. Given the high frequency, EGFR and ALK aberrations were the first to be detected and paved the way for tyrosine kinase inhibitor (TKI) treatments. Other kinases such as ROS1 and more recently RET have emerged as promising targets, and ROS1 and RET TKIs are already available for precision medicine.We screened a large cohort of 713 Caucasian non-squamous NSCLC patients lacking EGFR/KRAS/BRAF/HER2/PI3KCA/ALK aberrations for ROS1 and RET rearrangements using fluorescence in situ hybridization to determine the frequency and clinicopathological characteristics of ROS1- and RET-positive patients...
June 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28637008/cytotoxic-profiling-of-artesunic-and-betulinic-acids-and-their-synthetic-hybrid-compound-on-neurons-and-gliomas
#18
Annemarie Ackermann, Aysun Çapcı Karagöz, Ali Ghoochani, Michael Buchfelder, Ilker Eyüpoglu, Svetlana B Tsogoeva, Nicolai Savaskan
Gliomas are brain-born tumors with devastating impact on their brain microenvironment. Novel approaches employ multiple combinations of chemical compounds in synthetic hybrid molecules to target malignant tumors. Here, we report on the chemical hybridization approach exemplified by artesunic acid (ARTA) and naturally occurring triterpene betulinic acid (BETA). Artemisinin derived semisynthetic compound artesunic acid (ARTA) and naturally occurring triterpene BETA were used to synthetically couple to the hybrid compound termed 212A...
June 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636934/the-tmao-producing-enzyme-flavin-containing-monooxygenase-3-regulates-obesity-and-the-beiging-of-white-adipose-tissue
#19
Rebecca C Schugar, Diana M Shih, Manya Warrier, Robert N Helsley, Amy Burrows, Daniel Ferguson, Amanda L Brown, Anthony D Gromovsky, Markus Heine, Arunachal Chatterjee, Lin Li, Xinmin S Li, Zeneng Wang, Belinda Willard, YongHong Meng, Hanjun Kim, Nam Che, Calvin Pan, Richard G Lee, Rosanne M Crooke, Mark J Graham, Richard E Morton, Carl D Langefeld, Swapan K Das, Lawrence L Rudel, Nizar Zein, Arthur J McCullough, Srinivasan Dasarathy, W H Wilson Tang, Bernadette O Erokwu, Chris A Flask, Markku Laakso, Mete Civelek, Sathyamangla V Naga Prasad, Joerg Heeren, Aldons J Lusis, Stanley L Hazen, J Mark Brown
Emerging evidence suggests that microbes resident in the human intestine represent a key environmental factor contributing to obesity-associated disorders. Here, we demonstrate that the gut microbiota-initiated trimethylamine N-oxide (TMAO)-generating pathway is linked to obesity and energy metabolism. In multiple clinical cohorts, systemic levels of TMAO were observed to strongly associate with type 2 diabetes. In addition, circulating TMAO levels were associated with obesity traits in the different inbred strains represented in the Hybrid Mouse Diversity Panel...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28636910/prp40-homolog-a-is-a-novel-centrin-target
#20
Adalberto Díaz Casas, Walter J Chazin, Belinda Pastrana-Ríos
Pre-mRNA processing protein 40 (Prp40) is a nuclear protein that has a role in pre-mRNA splicing. Prp40 possesses two leucine-rich nuclear export signals, but little is known about the function of Prp40 in the export process. Another protein that has a role in protein export is centrin, a member of the EF-hand superfamily of Ca(2+)-binding proteins. Prp40 was found to be a centrin target by yeast-two-hybrid screening using both Homo sapiens centrin 2 (Hscen2) and Chlamydomonas reinhardtii centrin (Crcen). We identified a centrin-binding site within H...
June 20, 2017: Biophysical Journal
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