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https://www.readbyqxmd.com/read/28097313/association-of-weekend-warrior-and-other-leisure-time-physical-activity-patterns-with-risks-for-all-cause-cardiovascular-disease-and-cancer-mortality
#1
Gary O'Donovan, I-Min Lee, Mark Hamer, Emmanuel Stamatakis
Importance: More research is required to clarify the association between physical activity and health in "weekend warriors" who perform all their exercise in 1 or 2 sessions per week. Objective: To investigate associations between the weekend warrior and other physical activity patterns and the risks for all-cause, cardiovascular disease (CVD), and cancer mortality. Design, Setting, and Participants: This pooled analysis of household-based surveillance studies included 11 cohorts of respondents to the Health Survey for England and Scottish Health Survey with prospective linkage to mortality records...
January 9, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/28095098/reduced-penetrance-in-a-large-caucasian-pedigree-with-stickler-syndrome
#2
Stuart W Tompson, Charles Johnson, Diana Abbott, Benjamin Bakall, Vincent Soler, Tammy L Yanovitch, Kristina N Whisenhunt, Thomas Klemm, Steve Rozen, Edwin M Stone, Max Johnson, Terri L Young
BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to identify the causal variant. MATERIALS AND METHODS: Genomic DNA samples collected from 40 family members were analyzed. A whole-genome linkage scan was performed using Illumina HumanLinkage-24 BeadChip followed by two-point and multipoint linkage analyses using FASTLINK and MERLIN...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28094965/taxodikaloids-a-and-b-two-dimeric-abietane-type-diterpenoids-from-taxodium-ascendens-possessing-an-oxazoline-ring-linkage
#3
Xing-Hao Huang, Ling-Xue Tao, Chang-Qiang Ke, Chunping Tang, Hai-Yan Zhang, Yang Ye, Li-Gen Lin, Sheng Yao
Two dimeric diterpenoids, taxodikaloids A (1) and B (2), have been identified from the seeds of Taxodium ascendens. The diterpenoid structures were established on the basis of comprehensive spectroscopic analysis, and the absolute configuration of taxodikaloid A (1) was further confirmed by single-crystal X-ray diffraction. Both structures feature an unprecedented oxazoline ring linkage connecting two abietane diterpenoid monomers. A plausible biosynthetic pathway for compounds 1 and 2 is proposed. Both compounds show potential neuroprotective activity against Aβ25-35-induced damage in SH-SY5Y cells...
January 17, 2017: Organic Letters
https://www.readbyqxmd.com/read/28094470/mechanistic-studies-of-dmap-initiated-cyclohexene-oxide-co2-copolymerization-by-a-chromium-iii-pyridylamine-bis-phenolate-complex
#4
Christopher Mark Kozak, Katalin Devaine-Pressing
Chromium(III) chlorido amine-bis(phenolate) complexes paired with nucleophilic co-catalysts are a promising family of catalysts for the copolymerization of CO2 and epoxides to selectively produce polycarbonates with a very high degree of carbonate linkages. Single component catalyst systems can be prepared, where the neutral nucleophile, 4-dimethylaminopyridine (DMAP), is coordinated to the metal site to provide a stable octahedral CrIII complex. These complexes possess the potentional for both anionic (from the chlorido ligand) or neutral (DMAP) nucleophilic epoxide ring-opening during the proposed rate-determining initation step...
January 17, 2017: ChemSusChem
https://www.readbyqxmd.com/read/28094296/hydrophobic-residues-near-the-bilin-chromophore-binding-pocket-modulate-spectral-tuning-of-insert-cys-subfamily-cyanobacteriochromes
#5
Sung Mi Cho, Sae Chae Jeoung, Ji-Young Song, Ji-Joon Song, Youn-Il Park
Cyanobacteriochromes (CBCRs) are a subfamily of phytochrome photoreceptors found exclusively in photosynthetic cyanobacteria. Four CBCRs containing a second Cys in the insert region (insert-Cys) have been identified from the nonheterocystous cyanobacterium Microcoleus B353 (Mbr3854g4 and Mbl3738g2) and the nitrogen fixing, heterocystous cyanobacterium Nostoc punctiforme (NpF2164g3 and NpR1597g2). These insert-Cys CBCRs can sense light in the near-UV to orange range, but key residues responsible for tuning their colour sensitivity have not been reported...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28092216/metabolism-of-metofluthrin-in-rats-i-identification-of-metabolites
#6
Jun Abe, Hirohisa Nagahori, Hirokazu Tarui, Yoshitaka Tomigahara, Naohiko Isobe
Metofluthrin (2,3,5,6-tetrafluoro-4-(methoxymethyl)benzyl (Z/E)-(1R)-trans-2,2-dimethyl-3-(1-propenyl)-cyclopropanecarboxylate) is a novel pyrethroid insecticide, which has E/Z isomers at prop-1-enyl group. Rats were orally dosed with each [(14)C]-labeled E/Z isomer, and the excreta were collected for isolation and identification of metabolites. Analysis of the excreta by LC/MS and NMR revealed formation of 33 and 23 (total 42) metabolites from rats dosed with Z-isomer and E-isomer, respectively. Major metabolic reactions were cleavage of ester linkage, O-demethylation, hydroxylation, epoxidation or reduction of double bond, glutathione conjugation and its further metabolism, hydroxylation of epoxide, and formation of lactone ring...
January 16, 2017: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/28092143/human-leucocyte-antigen-adverse-drug-reaction-associations-from-a-perspective-of-ethnicity
#7
REVIEW
G S Ghattaoraya, D Middleton, E J M Santos, R Dickson, A R Jones, A Alfirevic
Whilst immune-mediated adverse drug reactions (ADRs) are rare, they are potentially life-threatening and present a major problem for clinicians. The underlying mechanisms that cause ADRs are not fully understood although genomewide association studies (GWAS) and case-control investigations have associated human leucocyte antigen (HLA) alleles as risk factors. There is evidence that a patient's ethnic background can have an impact on their risk of developing an ADR. This review summarizes the evidence related to HLA alleles and ADRs with particular focus on patient ethnicity...
February 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28090266/reconstruction-of-a-composite-comparative-map-composed-of-ten-legume-genomes
#8
Chaeyoung Lee, Dongwoon Yu, Hong-Kyu Choi, Ryan W Kim
The Fabaceae (legume family) is the third largest and the second of agricultural importance among flowering plant groups. In this study, we report the reconstruction of a composite comparative map composed of ten legume genomes, including seven species from the galegoid clade (Medicago truncatula, Medicago sativa, Lens culinaris, Pisum sativum, Lotus japonicus, Cicer arietinum, Vicia faba) and three species from the phaseoloid clade (Vigna radiata, Phaseolus vulgaris, Glycine max). To accomplish this comparison, a total of 209 cross-species gene-derived markers were employed...
2017: Genes & Genomics
https://www.readbyqxmd.com/read/28088656/low-dose-aspirin-use-and-survival-in-breast-cancer-patients-a-nationwide-cohort-study
#9
Úna C Mc Menamin, Chris R Cardwell, Carmel M Hughes, Liam J Murray
BACKGROUND: Preclinical evidence from breast cancer cell lines and animal models suggest that aspirin could have anti-cancer properties. In a large breast cancer patient cohort, we investigated whether post-diagnostic low-dose aspirin use was associated with a reduction in the risk of breast cancer-specific mortality. METHODS: We identified 15,140 newly diagnosed breast cancer patients within the Scottish Cancer Registry. Linkages to the Scottish Prescribing Information System provided data on dispensed medications and breast cancer-specific deaths were identified from National Records of Scotland Death Records...
January 12, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28088409/genome-wide-association-analysis-and-pathways-enrichment-for-lactation-persistency-in-canadian-holstein-cattle
#10
D N Do, N Bissonnette, P Lacasse, F Miglior, M Sargolzaei, X Zhao, E M Ibeagha-Awemu
Lactation persistency (LP), defined as the rate of declining milk yield after milk peak, is an economically important trait for dairy cattle. Improving LP is considered a good alternative method for increasing overall milk production because it does not cause the negative energy balance and other health issues that cows experience during peak milk production. However, little is known about the biology of LP. A genome-wide association study (GWAS) and pathway enrichment were used to explore the genetic mechanisms underlying LP...
January 11, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28088318/correlation-of-the-hpv-detection-protein-expression-and-dna-content-in-cutaneous-pre-invasive-and-invasive-carcinoma-among-croatian-patients
#11
Kristina Meljanac Salopek, Stanko Jukić, Damir Babić
Development of cutaneous carcinomas has been associated with HPV infection. There have been various reports on p16, p53 and pRb expression in cutaneous carcinomas and on its linkage to HPV status. Association of protein expression and HPV infection with DNA content is not clear. The aim of this study was to determine a possible correlation between HPV type, protein expression and DNA content in both pre-invasive and invasive squamous cell carcinoma, as well as differences between studied groups in these parameters...
January 11, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28087533/polysaccharide-degradation-capability-of-actinomycetales-soil-isolates-from-a-semi-arid-grassland-of-the-colorado-plateau
#12
Chris M Yeager, La Verne Gallegos-Graves, John Dunbar, Cedar N Hesse, Hajnalka Daligault, Cheryl R Kuske
: Among the bacteria, members of the Actinomycetales are considered quintessential degraders of complex polysaccharides in soils. However, studies examining complex polysaccharide degradation by Actinomycetales (other than Streptomyces spp.) in soils are limited. Here, we examine the lignocellulolytic and chitinolytic potential of 112 Actinomycetales strains, encompassing 13 families, isolated from a semi-arid grassland of the Colorado Plateau, Utah, USA. Members of the Streptomycetaceae, Pseudonocardiaceae, Micromonosporaceae and Promicromonosporaceae exhibited robust activity against carboxymethylcellulose, xylan, chitin and pectin substrates (except for low/no pectinase activity by the Micromonosporaceae)...
January 13, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28087451/in-depth-comparative-analysis-of-the-chicken-eggshell-membrane-proteome
#13
Tamer A E Ahmed, Henri-Pierre Suso, Maxwell T Hincke
: The avian eggshell membrane (ESM) is stabilized by extensive cross-linkages, making the identification of its protein constituents technically challenging. Herein, we applied various extraction/solubilization conditions followed by proteomic analysis to characterize the protein constituents of ESM derived from the unfertilized chicken eggs. The egg white and eggshell proteomes (including previous published work) were determined and compared to ESM to identify proteins that are relatively or highly specific to ESM...
January 10, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28087289/clinical-utility-and-functional-analysis-of-variants-in-atrial-fibrillation-associated-locus-4q25
#14
Yusuke Ebana, Kouichi Ozaki, Lian Liu, Hitoshi Hachiya, Kenzo Hirao, Mitsuaki Isobe, Michiaki Kubo, Toshihiro Tanaka, Tetsushi Furukawa
BACKGROUND: Chromosome 4q25 has been repeatedly identified as atrial fibrillation (AF)-sensitive locus in multiple genome-wide association studies (GWAS) and is considered to hold some clues to AF pathogenesis. We aimed to investigate the clinical utilities in Japanese and to unveil the function of the 4q25 locus in affecting transcription of adjacent genes. METHODS: We conducted AF GWAS in Japanese population (1382 AF cases and 1478 controls) and the replication panel (1666 AF cases and 1229 controls) with detailed clinical information which showed the acceleration of AF onset...
January 10, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28079340/serum-tryptase-levels-in-melanoma-patients-case-control-study-and-review-of-the-literature
#15
Giovanni Paolino, Elisa Moliterni, Dario Didona, Michele Cardone, Teresa Lopez, Valentina Garelli, Antonio G Richetta, Ugo Bottoni, Carmen Cantisani, Alfredo Rossi, Stefano Calvieri
BACKGROUND: Serum tryptase results from the constant release of the enzyme from mast cells and serum tryptase levels are commonly considered to be related to the total number of mast cells. They are increased in several malignancies, as pancreatic carcinoma, angiosarcoma, hepatic carcinoma and proliferative and/or non- proliferative hematological disorders. Contrariwise, it has been reported that the number of tryptase+ and chymase+ mast cells was lower in deeply invasive melanoma compared to in-situ melanoma and dysplastic nevi...
January 12, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28079285/a-pathway-based-association-study-reveals-variants-from-wnt-signaling-genes-contributing-to-asthma-susceptibility
#16
A Barreto-Luis, A Corrales, M Acosta-Herrera, C Gonzalez-Colino, J Cumplido, J Martinez-Tadeo, A Carracedo, J Villar, T Carrillo, M Pino-Yanes, C Flores
BACKGROUND: Genetic susceptibility to asthma is currently linked to a handful of genes which have a limited ability to predict the overall disease risk, suggesting the existence of many other genes involved in disease development. Accumulated evidence from association studies in genes related by biological pathways could reveal novel asthma genes. OBJECTIVE: To reveal novel asthma susceptibility genes by means of a pathway-based association study. METHODS: Based on summary data from a previous a genome-wide association study (GWAS) of asthma, we first identified significant biological pathways using a gene-set enrichment analysis...
January 12, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28079141/development-of-a-690%C3%A2-k-snp-array-in-catfish-and-its-application-for-genetic-mapping-and-validation-of-the-reference-genome-sequence
#17
Qifan Zeng, Qiang Fu, Yun Li, Geoff Waldbieser, Brian Bosworth, Shikai Liu, Yujia Yang, Lisui Bao, Zihao Yuan, Ning Li, Zhanjiang Liu
Single nucleotide polymorphisms (SNPs) are capable of providing the highest level of genome coverage for genomic and genetic analysis because of their abundance and relatively even distribution in the genome. Such a capacity, however, cannot be achieved without an efficient genotyping platform such as SNP arrays. In this work, we developed a high-density SNP array with 690,662 unique SNPs (herein 690 K array) that were relatively evenly distributed across the entire genome, and covered 98.6% of the reference genome sequence...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28078809/three-year-analysis-of-repeated-laboratory-tests-for-the-markers-total-cholesterol-ferritin-vitamin-d-vitamin-b12-and-folate-in-a-large-research-and-teaching-hospital-in-italy
#18
Monica Lanzoni, Marco Fornili, Irene Felicetta, Rita Maiavacca, Elia Biganzoli, Silvana Castaldi
RATIONALE, AIMS AND OBJECTIVES: The increasing number of diagnostic tests requests all over the world is a problem that can partially be explained by inappropriate testing. Impact on the total costs of health systems becomes relevant when tests are performed in a large amount. In this paper, retesting of total cholesterol, ferritin, vitamin B12 , vitamin D, and folate is assessed. METHODS: The Quality Unit of Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano (Fondazione) decided to perform a first assessment of the appropriate use of the laboratory tests cholesterol, ferritin, vitamin B12 , vitamin D, and folate focusing on the retesting interval for the same patient in the time period January 1, 2012, to December 31, 2014, in every care setting...
January 12, 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/28077191/genome-wide-analysis-in-endangered-populations-a-case-study-in-barbaresca-sheep
#19
S Mastrangelo, B Portolano, R Di Gerlando, R Ciampolini, M Tolone, M T Sardina
Analysis of genomic data is becoming increasingly common in the livestock industry and the findings have been an invaluable resource for effective management of breeding programs in small and endangered populations. In this paper, with the goal of highlighting the potential of genomic analysis for small and endangered populations, genome-wide levels of linkage disequilibrium, measured as the squared correlation coefficient of allele frequencies at a pair of loci, effective population size, runs of homozygosity (ROH) and genetic diversity parameters, were estimated in Barbaresca sheep using Illumina OvineSNP50K array data...
January 12, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28077090/gbs-based-single-dosage-markers-for-linkage-and-qtl-mapping-allow-gene-mining-for-yield-related-traits-in-sugarcane
#20
Thiago Willian Almeida Balsalobre, Guilherme da Silva Pereira, Gabriel Rodrigues Alves Margarido, Rodrigo Gazaffi, Fernanda Zatti Barreto, Carina Oliveira Anoni, Cláudio Benício Cardoso-Silva, Estela Araújo Costa, Melina Cristina Mancini, Hermann Paulo Hoffmann, Anete Pereira de Souza, Antonio Augusto Franco Garcia, Monalisa Sampaio Carneiro
BACKGROUND: Sugarcane (Saccharum spp.) is predominantly an autopolyploid plant with a variable ploidy level, frequent aneuploidy and a large genome that hampers investigation of its organization. Genetic architecture studies are important for identifying genomic regions associated with traits of interest. However, due to the genetic complexity of sugarcane, the practical applications of genomic tools have been notably delayed in this crop, in contrast to other crops that have already advanced to marker-assisted selection (MAS) and genomic selection...
January 11, 2017: BMC Genomics
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