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https://www.readbyqxmd.com/read/28650955/netnorm-capturing-cancer-relevant-information-in-somatic-exome-mutation-data-with-gene-networks-for-cancer-stratification-and-prognosis
#1
Marine Le Morvan, Andrei Zinovyev, Jean-Philippe Vert
Genome-wide somatic mutation profiles of tumours can now be assessed efficiently and promise to move precision medicine forward. Statistical analysis of mutation profiles is however challenging due to the low frequency of most mutations, the varying mutation rates across tumours, and the presence of a majority of passenger events that hide the contribution of driver events. Here we propose a method, NetNorM, to represent whole-exome somatic mutation data in a form that enhances cancer-relevant information using a gene network as background knowledge...
June 26, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28650694/investigation-of-the-developmental-potential-and-developmental-kinetics-of-bovine-parthenogenetic-and-somatic-cell-nuclear-transfer-embryos-using-a-time-lapse-monitoring-system
#2
Min-Jee Park, Eun-Young Kim, Man-Jong Kang, Jun-Beom Lee, Chang-Jin Jeong, Se-Pill Park
A time-lapse monitoring system has predictive value for selecting good-quality embryos with the highest implantation potential. Using this new tool, we investigated the developmental potential and developmental kinetics of bovine parthenogenetic (PA) and two types of somatic cell nuclear transfer (NT) embryos. Bovine non-transgenic ear cells (bECs) or transgenic cells (bTGCs) were used as donor cells. The cleavage and blastocyst development rates did not significantly differ among the PA, NT-bEC, and NT-bTGC groups, and first cleavage occurred an average of 19...
June 26, 2017: Cellular Reprogramming
https://www.readbyqxmd.com/read/28649990/a-pan-cancer-genome-wide-analysis-reveals-tumour-dependencies-by-induction-of-nonsense-mediated-decay
#3
Zhiyuan Hu, Christopher Yau, Ahmed Ashour Ahmed
Nonsense-mediated decay (NMD) eliminates transcripts with premature termination codons. Although NMD-induced loss-of-function has been shown to contribute to the genesis of particular cancers, its global functional consequence in tumours has not been characterized. Here we develop an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas. We identify more than 73 K mutations that are predicted to elicit NMD (NMD-elicit). NMD-elicit mutations in tumour suppressor genes (TSGs) are associated with significant reduction in gene expression...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649855/quality-of-life-and-its-factors-in-korean-elderly-with-mild-cognitive-impairment
#4
Younhee Kang, Eliza Lee
Based on the secondary data analysis, this study aimed to identify quality of life and factors that affect quality of life among Korean elderly with mild cognitive impairment. Demographic characteristics, physical factors, and psychosocial factors as well as quality of life of the elderly with mild cognitive impairment were comprehensively measured. The research subjects consisted of 348 home-resident elderly and their quality of life scores were relatively high at 29.86. Their quality of life varied according to education and gender, and instrumental activities of daily living (actual, latent), somatic symptoms, sleep quality, depression, and social support affected their quality of life...
June 1, 2017: Clinical Nursing Research
https://www.readbyqxmd.com/read/28649647/moonshots-and-metastatic-disease-the-need-for-a-multi-faceted-approach-when-studying-atypical-responses
#5
REVIEW
Kristine De La Torre, Elly Cohen, Anne Loeser, Marc Hurlbert
Clinical research generally focuses on results involving a statistical mean with little attention in trial design to patients who respond considerably better or worse than average. Exploring the reasons underlying an "atypical response" will increase understanding of the mechanisms involved in cancer progression and treatment resistance, accelerate biomarker identification, and improve precision medicine by allowing clinicians to prospectively select optimal treatments. Based on our review, we suggest two ways to move this field forward...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649466/the-venice-specimen-of-ouranosaurus-nigeriensis-dinosauria-ornithopoda
#6
Filippo Bertozzo, Fabio Marco Dalla Vecchia, Matteo Fabbri
Ouranosaurus nigeriensis is an iconic African dinosaur taxon that has been described on the basis of two nearly complete skeletons from the Lower Cretaceous Gadoufaoua locality of the Ténéré desert in Niger. The entire holotype and a few bones attributed to the paratype formed the basis of the original description by Taquet (1976). A mounted skeleton that appears to correspond to O. nigeriensis has been on public display since 1975, exhibited at the Natural History Museum of Venice. It was never explicitly reported whether the Venice specimen represents a paratype and therefore, the second nearly complete skeleton reported in literature or a third unreported skeleton...
2017: PeerJ
https://www.readbyqxmd.com/read/28649423/ubiquitous-overexpression-of-the-dna-repair-factor-dprp19-reduces-dna-damage-and-extends-drosophila-life-span
#7
Kathrin Garschall, Hanna Dellago, Martina Gáliková, Markus Schosserer, Thomas Flatt, Johannes Grillari
Mechanisms that ensure and maintain the stability of genetic information are fundamentally important for organismal function and can have a large impact on disease, aging, and life span. While a multi-layered cellular apparatus exists to detect and respond to DNA damage, various insults from environmental and endogenous sources continuously affect DNA integrity. Over time this can lead to the accumulation of somatic mutations, which is thought to be one of the major causes of aging. We have previously found that overexpression of the essential human DNA repair and splicing factor SNEV, also called PRP19 or hPso4, extends replicative life span of cultured human endothelial cells and impedes accumulation of DNA damage...
2017: NPJ Aging and Mechanisms of Disease
https://www.readbyqxmd.com/read/28649300/negative-body-experience-in-women-with-early-childhood-trauma-associations-with-trauma-severity-and-dissociation
#8
Mia Scheffers, Maike Hoek, Ruud J Bosscher, Marijtje A J van Duijn, Robert A Schoevers, Jooske T van Busschbach
Background: A crucial but often overlooked impact of early life exposure to trauma is its far-reaching effect on a person's relationship with their body. Several domains of body experience may be negatively influenced or damaged as a result of early childhood trauma. Objective: The aim of this study was to investigate disturbances in three domains of body experience: body attitude, body satisfaction, and body awareness. Furthermore, associations between domains of body experience and severity of trauma symptoms as well as frequency of dissociation were evaluated...
2017: European Journal of Psychotraumatology
https://www.readbyqxmd.com/read/28649282/asymmetric-dna-methylation-of-cpg-dyads-is-a-feature-of-secondary-dmrs-associated-with-the-dlk1-gtl2-imprinting-cluster-in-mouse
#9
Megan Guntrum, Ekaterina Vlasova, Tamara L Davis
BACKGROUND: Differential DNA methylation plays a critical role in the regulation of imprinted genes. The differentially methylated state of the imprinting control region is inherited via the gametes at fertilization, and is stably maintained in somatic cells throughout development, influencing the expression of genes across the imprinting cluster. In contrast, DNA methylation patterns are more labile at secondary differentially methylated regions which are established at imprinted loci during post-implantation development...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28649249/dscam1-in-pancrustacean-immunity-current-status-and-a-look-to-the-future
#10
Sophie A O Armitage, Joachim Kurtz, Daniela Brites, Yuemei Dong, Louis Du Pasquier, Han-Ching Wang
The Down syndrome cell adhesion molecule 1 (Dscam1) gene is an extraordinary example of diversity: by combining alternatively spliced exons, thousands of isoforms can be produced from just one gene. So far, such diversity in this gene has only been found in insects and crustaceans, and its essential part in neural wiring has been well-characterized for Drosophila melanogaster. Ten years ago evidence from D. melanogaster showed that the Dscam1 gene is involved in insect immune defense and work on Anopheles gambiae indicated that it is a hypervariable immune receptor...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28649007/polypharmacy-and-sun-exposure-implications-for-mitochondrial-dna-deletions-in-skin
#11
Julia Montelin Powers, Gillian Murphy, Nikki Ralph, Susan M O'Gorman, James E J Murphy
Most somatic cells contain many copies of mitochondrial DNA (mtDNA). Because of both the high copy number and the lack of repair mechanisms available to mtDNA, damage to it largely goes unrepaired, and can accumulate over time. Large scale deletions are a recognised type of damage sustained by mtDNA as a consequence of exposure to the ultraviolet light in sunlight. A group of patients were identified as having abnormally high levels of either a 4977 base pair deletion (mtDNA(4977)) or 3895 base pair deletion (mtDNA(3895)), in mtDNA from sun exposed skin or skin suspected to be a non-melanoma skin cancer, but not in their non-sun exposed skin biopsies...
June 17, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28648970/treating-functional-non-epileptic-attacks-should-we-consider-acceptance-and-commitment-therapy
#12
REVIEW
Sarah R Cope, Norman Poole, Niruj Agrawal
Patients who experience functional non-epileptic attacks (FNEA) are frequently seen in Neurology clinics. Diagnosis alone can result in cessation of attacks for some patients, but many patients require further treatment. There is evidence that certain psychological therapies, like cognitive-behavioral therapy (CBT) and psychodynamic interpersonal therapy (PIT) can be beneficial. Acceptance and commitment therapy (ACT) is a type of CBT that has been found to be effective at treating other somatic disorders, like epilepsy and chronic pain...
June 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28648844/novel-functions-for-the-rna-binding-protein-etr-1-in-caenorhabditis-elegans-reproduction-and-engulfment-of-germline-apoptotic-cell-corpses
#13
Ruby Boateng, Ken C Q Nguyen, David H Hall, Andy Golden, Anna K Allen
RNA-binding proteins (RBPs) are essential regulators of gene expression that act through a variety of mechanisms to ensure the proper post-transcriptional regulation of their target RNAs. RBPs in multiple species have been identified as playing crucial roles during development and as having important functions in various adult organ systems, including the heart, nervous, muscle, and reproductive systems. ETR-1, a highly conserved ELAV-Type RNA-binding protein belonging to the CELF/Bruno protein family, has been previously reported to be involved in C...
June 22, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28648504/disorders-of-thyroid-morphogenesis
#14
REVIEW
Rasha Abu-Khudir, Stéphanie Larrivée-Vanier, Jonathan D Wasserman, Johnny Deladoëy
Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a sporadic disorder although a reported familial enrichment, variation of incidence by ethnicity and the monogenic defects associated mainly with athyreosis or orthotopic thyroid hypoplasia, suggest a genetic contribution. Of note, the most common developmental anomaly, thyroid ectopy, remains unexplained. Ectopy may result from multiple genetic or epigenetic variants in the germline and/or at the somatic level...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28647488/autoreactivity-to-malondialdehyde-modifications-in-rheumatoid-arthritis-is-linked-to-disease-activity-and-synovial-pathogenesis
#15
Caroline Grönwall, Khaled Amara, Uta Hardt, Akilan Krishnamurthy, Johanna Steen, Marianne Engström, Meng Sun, A Jimmy Ytterberg, Roman A Zubarev, Dagmar Scheel-Toellner, Jeffrey D Greenberg, Lars Klareskog, Anca I Catrina, Vivianne Malmström, Gregg J Silverman
Oxidation-associated malondialdehyde (MDA) modification of proteins can generate immunogenic neo-epitopes that are recognized by autoantibodies. In health, IgM antibodies to MDA-adducts are part of the natural antibody pool, while elevated levels of IgG anti-MDA antibodies are associated with inflammatory and autoimmune conditions. Yet, in human autoimmune disease IgG anti-MDA responses have not been well characterized and their potential contribution to disease pathogenesis is not known. Here, we investigate MDA-modifications and anti-MDA-modified protein autoreactivity in rheumatoid arthritis (RA)...
June 21, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28647336/milk-composition-and-health-status-from-mammary-gland-quarters-adjacent-to-glands-affected-with-naturally-occurring-clinical-mastitis
#16
Marcel G Paixão, Luiz R Abreu, Roxann Richert, Pamela L Ruegg
Mammary gland quarters have usually been considered to be anatomically and physiologically independent, but some recent research has indicated more interdependence than previously reported. The objective of this study was to compare milk composition (fat, total protein, lactose, solids-not-fat, and chloride) and health status (somatic cell count, differential leukocyte count, and lactate dehydrogenase) of milk samples from unaffected mammary glands of an udder with a single clinically inflamed quarter to results of milk samples from healthy mammary glands of healthy cows...
June 21, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28647335/incidence-and-duration-of-increased-somatic-cell-count-in-swedish-dairy-cows-and-associations-with-milking-system-type
#17
J Frössling, A Ohlson, C Hallén-Sandgren
Mastitis is one of the most costly diseases in dairy cows worldwide. Increased somatic cell count (SCC) is an indication of mastitis, often subclinical, which implies bacterial infection without clinical signs of inflammation. The aim was to investigate the occurrence of elevated udder SCC (defined as ≥200,000 cells/mL) over the lactation period, and before and after the dry period, for cows of different parity. The aim was also to analyze the association between prevalence and incidence of increased udder SCC and information on cow and herd level, such as breed and milking system type...
June 21, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28647334/test-characteristics-of-milk-amyloid-a-elisa-somatic-cell-count-and-bacteriological-culture-for-detection-of-intramammary-pathogens-that-cause-subclinical-mastitis
#18
S Jaeger, F Virchow, P R Torgerson, M Bischoff, B Biner, S Hartnack, S R Rüegg
Bovine mastitis is an important disease in the dairy industry, causing economic losses as a result of withheld milk and treatment costs. Several studies have suggested milk amyloid A (MAA) as a promising biomarker in the diagnosis of mastitis. In the absence of a gold standard for diagnosis of subclinical mastitis, we estimated the diagnostic test accuracy of a commercial MAA-ELISA, somatic cell count (SCC), and bacteriological culture using Bayesian latent class modeling. We divided intramammary infections into 2 classes: those caused by major pathogens (e...
June 21, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28646449/occurrence-of-pepper-mild-mottle-virus-pmmov-in-groundwater-from-a-karst-aquifer-system-in-the-yucatan-peninsula-mexico
#19
Gabriela Rosiles-González, Gerardo Ávila-Torres, Oscar A Moreno-Valenzuela, Gilberto Acosta-González, Rosa María Leal-Bautista, Cinthya D Grimaldo-Hernández, Judith K Brown, Cristóbal Chaidez-Quiroz, Walter Q Betancourt, Charles P Gerba, Cecilia Hernández-Zepeda
The Yucatan Peninsula of Mexico hosts a karst aquifer system that is the only source of freshwater for the area; however, it is vulnerable to human-mediated contamination. Pepper mild mottle virus (PMMoV) is one of the most abundant RNA viruses associated with human feces, making it a viable indicator for tracking fecal pollution in aquatic environments, including groundwater. In this study, groundwater samples collected from a karst aquifer from fresh and brackish water locations were analyzed for fecal indicator bacteria, somatic and male F+ specific coliphages, and PMMoV during the rainy and dry seasons...
June 23, 2017: Food and Environmental Virology
https://www.readbyqxmd.com/read/28646317/di-n-butyl-phthalate-prompts-interruption-of-spermatogenesis-steroidogenesis-and-fertility-associated-with-increased-testicular-oxidative-stress-in-adult-male-rats
#20
Giribabu Nelli, Sreenivasula Reddy Pamanji
Di-n-butyl phthalate (DBP) is extensively used as plasticizer, and it was ubiquitary released into the environment. The present study was aimed to investigate the effect of DBP on reproductive competence in adult male rats. Adult male rats were received corn oil or DBP injection intraperitoneally (ip) at 100 and 500 mg/kg body weight on 90, 97, 104, and 111 days. Following completion of the experimental period, adult male rats were cohabitated with untreated proestrus female rats for determination of fertilization capacity...
June 24, 2017: Environmental Science and Pollution Research International
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