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Nature Genetics

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https://www.readbyqxmd.com/read/29334187/surveying-the-landscape-of-optogenetic-methods-for-detection-of-protein-protein-interactions
#1
REVIEW
Matthew D Wiens, Robert E Campbell
Mapping the protein-protein interaction (PPi) landscape is of critical importance to furthering our understanding how cells and organisms function. Optogenetic methods, that is, approaches that utilize genetically encoded fluorophores or fluorogenic enzyme reactions, uniquely enable the visualization of biochemical phenomena in live cells with high spatial and temporal accuracy. Applying optogenetic methods to the detection of PPis requires the engineering of protein-based systems in which an optical signal undergoes a substantial change when the two proteins of interest interact...
January 15, 2018: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/29333687/h9n2-influenza-virus-isolated-from-minks-has-enhanced-virulence-in-mice
#2
R Xue, Y Tian, T Hou, D Bao, H Chen, Q Teng, J Yang, X Li, G Wang, Z Li, Q Liu
H9N2 is one of the major subtypes of influenza virus circulating in poultry in China, which has a wide host range from bird to mammals. Two H9N2 viruses were isolated from one mink farm in 2014. Phylogenetic analysis showed that internal genes of the H9N2 viruses have close relationship with those of H7N9 viruses. Interestingly, two H9N2 were separated in phylogenetic trees, indicating that they are introduced to this mink farm in two independent events. And further mice studies showed that one H9N2 caused obvious weight loss and 20% mortality in infected mice, while another virus did not cause any clinical sign in mice infected at the same dose...
January 14, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29333670/pustular-psoriasis-and-related-pustular-skin-diseases
#3
REVIEW
H Bachelez
Patients with pustular psoriasis or related pustular diseases may have genetic abnormalities impairing the function of key players of the innate skin immune system. Recently, identification of these abnormalities has changed the paradigm of several of these diseases. These include generalized pustular psoriasis, palmoplantar pustular psoriasis and acrodermatitis continua of Hallopeau, and also drug-induced acute exanthematous generalized pustular eruption. Identified mutations in IL36RN, CARD14 and AP1S3 in different groups of patients lead to enhanced inflammatory cascade in several cellular subtypes including keratinocytes, and to the recruitment and activation of neutrophils and macrophages...
January 15, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29332973/metabologenomics-of-phaeochromocytoma-and-paraganglioma-an-integrated-approach-for-personalised-biochemical-and-genetic-testing
#4
REVIEW
Graeme Eisenhofer, Barbara Klink, Susan Richter, Jacques Wm Lenders, Mercedes Robledo
The tremendous advances over the past two decades in both clinical genetics and biochemical testing of chromaffin cell tumours have led to new considerations about how these aspects of laboratory medicine can be integrated to improve diagnosis and management of affected patients. With germline mutations in 15 genes now identified to be responsible for over a third of all cases of phaeochromocytomas and paragangliomas, these tumours are recognised to have one of the richest hereditary backgrounds among all neoplasms...
April 2017: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/29332359/novel-molecular-and-metabolic-aspects-in-osteosarcoma
#5
Evangelos Tsiambas, Panagiotis P Fotiades, Chrissa Sioka, Dimitrios Kotrotsios, Evangelia Gkika, Andreas Fotopoulos, Stylianos N Mastronikolis, Ilianna E Armata, Evangelos Giotakis, Vasileios Ragos
Osteosarcoma (OS) is the most frequent bone-forming malignancy in children and adolescents. Concerning its molecular landscape, there is no a direct relationship with a specific gene, but a combination of genetic events. A broad spectrum of activated oncogenes and downregulated suppressor genes has been already explored and considered crucial for its progressive pathogenesis. Mechanisms of gene deregulation include amplifications, point mutations, allelic losses and also epigenetic abnormalities such as aberrant promoter methylation...
November 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29331866/development-of-a-novel-equine-influenza-virus-live-attenuated-vaccine
#6
Laura Rodriguez, Stephanie Reedy, Aitor Nogales, Pablo R Murcia, Thomas M Chambers, Luis Martinez-Sobrido
H3N8 equine influenza virus (EIV) is an important and significant respiratory pathogen of horses. EIV is enzootic in Europe and North America, mainly due to the suboptimal efficacy of current vaccines. We describe, for the first time, the generation of a temperature sensitive (ts) H3N8 EIV live-attenuated influenza vaccine (LAIV) using reverse-genetics approaches. Our EIV LAIV was attenuated (att) in vivo and able to induce, upon a single intranasal administration, protection against H3N8 EIV wild-type (WT) challenge in both a mouse model and the natural host, the horse...
January 11, 2018: Virology
https://www.readbyqxmd.com/read/29331785/causal-nature-of-neighborhood-deprivation-on-individual-risk-of-coronary-heart-disease-or-ischemic-stroke-a-prospective-national-swedish-co-relative-control-study-in-men-and-women
#7
Per-Ola Forsberg, Henrik Ohlsson, Kristina Sundquist
We studied the association between neighborhood socioeconomic status (SES) and incidence of coronary heart disease (CHD) or ischemic stroke in the total population and in full- and half-siblings to determine whether these associations are causal or a result from familial confounding. Data were retrieved from nationwide Swedish registers containing individual clinical data linked to neighborhood of residence. After adjustment for individual SES, the association between neighborhood SES and CHD showed no decrease with increasing genetic resemblance, particularly in women...
January 10, 2018: Health & Place
https://www.readbyqxmd.com/read/29330797/testing-acute-oxygen-sensing-in-genetically-modified-mice-plethysmography-and-amperometry
#8
Patricia Ortega-Sáenz, Candela Caballero, Lin Gao, José López-Barneo
Monitoring responsiveness to acute hypoxia of whole animals and single cells is essential to investigate the nature of the mechanisms underlying oxygen (O2) sensing. Here we describe the protocols followed in our laboratory to evaluate the ventilatory response to hypoxia in normal and genetically modified animals. We also describe the amperometric technique used to monitor single-cell catecholamine release from chemoreceptor cells in carotid body and adrenal medulla slices.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29330750/immunologic-and-gene-expression-profiles-of-spontaneous-canine-oligodendrogliomas
#9
Anna Filley, Mario Henriquez, Tanmoy Bhowmik, Brij Nath Tewari, Xi Rao, Jun Wan, Margaret A Miller, Yunlong Liu, R Timothy Bentley, Mahua Dey
Malignant glioma (MG), the most common primary brain tumor in adults, is extremely aggressive and uniformly fatal. Several treatment strategies have shown significant preclinical promise in murine models of glioma; however, none have produced meaningful clinical responses in human patients. We hypothesize that introduction of an additional preclinical animal model better approximating the complexity of human MG, particularly in interactions with host immune responses, will bridge the existing gap between these two stages of testing...
January 12, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29330487/a-biomarker-characterizing-neurodevelopment-with-applications-in-autism
#10
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330422/seabirds-fighting-for-land-phenotypic-consequences-of-breeding-area-constraints-at-a-small-remote-archipelago
#11
Guilherme Tavares Nunes, Sophie Bertrand, Leandro Bugoni
Identifying associations between phenotypes and environmental parameters is crucial for understanding how natural selection acts at the individual level. In this context, genetically isolated populations can be useful models for identifying the forces selecting fitness-related traits. Here, we use a comprehensive dataset on a genetically and ecologically isolated population of the strictly marine bird, the brown booby Sula leucogaster, at the tropical and remote Saint Peter and Saint Paul Archipelago, mid-Atlantic Ocean, in order to detect phenotypic adjustments from interindividual differences in diet, foraging behaviour, and nest quality...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330368/evidence-of-subtle-genetic-structure-in-the-sympatric-species-mullus-barbatus-and-mullus-surmuletus-linnaeus-1758-in-the-mediterranean-sea
#12
Sanja Matić-Skoko, Tanja Šegvić-Bubić, Ivana Mandić, David Izquierdo-Gomez, Enrico Arneri, Pierluigi Carbonara, Fabio Grati, Zdravko Ikica, Jerina Kolitari, Nicoletta Milone, Paolo Sartor, Giuseppe Scarcella, Adnan Tokaç, Evangelos Tzanatos
Using thirteen microsatellite loci for Mullus barbatus and Mullus surmuletus collected in the Mediterranean Sea, the biogeographic boundaries, genetic distribution among and within basins and the impact of prolonged exploitation in both species were investigated as a basis for understanding their population dynamics and for improving Mullus spp. stock management. Different level of diversity indices among these co-occurring species were obtained, with M. barbatus showing higher allele richness and higher mean observed and expected heterozygosity than M...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330292/microenvironmental-derived-regulation-of-hif-signaling-drives-transcriptional-heterogeneity-in-glioblastoma-multiforme
#13
Dieter Henrik Heiland, Annette Gaebelein, Melanie Boerries, Jakob Woerner, Nils Pompe, Pamela Franco, Sabrina Heynckes, Mark D Bartholomä, Darren Ó hAilín, Maria Stella Carro, Marco Prinz, Stefan Weber, Irina Mader, Daniel Delev, Oliver Schnell
The evolving and highly heterogeneous nature of malignant brain tumors underlies their limited response to therapy and poor prognosis. In addition to genetic alterations, highly dynamic processes such as transcriptional and metabolic reprogramming play an important role in the development of tumor heterogeneity. The present study reports an adaptive mechanism in which the metabolic environment of malignant glioma drives transcriptional reprogramming. Multi-regional analysis of a glioblastoma patient biopsy revealed a metabolic landscape marked by varying stages of hypoxia and creatine enrichment...
January 12, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29329947/-pseudoexfoliation-syndrome-and-pseudoexfoliation-glaucoma
#14
REVIEW
C Schweitzer
Pseudoexfoliation syndrome is an age-related systemic disease that mainly affects the anterior structures of the eye. Despite a worldwide distribution, reported incidence and prevalence of this syndrome vary widely between ethnicities and geographical areas. The exfoliative material is composed mainly of abnormal cross-linked fibrils that accumulate progressively in some organs such as the heart, blood vessels, lungs or meninges, and particularly in the anterior structures of the eye. The exact pathophysiological process still remains unclear but the association of genetic and environmental factors are thought to play a role in the development and progressive extracellular accumulation of exfoliative material...
January 9, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29329860/ethyl-carbamate-an-emerging-food-and-environmental-toxicant
#15
REVIEW
Vemana Gowd, Hongming Su, Petr Karlovsky, Wei Chen
Ethyl carbamate (EC), a chemical substance widely present in fermented food products and alcoholic beverages, has been classified as a Group 2A carcinogen by the International Agency for Research on Cancer (IARC). New evidence indicates that long-term exposure to EC may cause neurological disorders. Formation of EC in food and its metabolism have therefore been studied extensively and analytical methods for EC in various food matrices have been established. Due to the potential threat of EC to human health, mitigation strategies for EC in food products by physical, chemical, enzymatic, and genetic engineering methods have been developed...
May 15, 2018: Food Chemistry
https://www.readbyqxmd.com/read/29329387/patients-with-acephalic-spermatozoa-syndrome-linked-to-sun5-mutations-have-a-favorable-pregnancy-outcome-from-icsi
#16
Jianzheng Fang, Jingjing Zhang, Fuxi Zhu, Xiaoyu Yang, Yugui Cui, Jiayin Liu
STUDY QUESTION: Are Sad1 and UNC84 domain containing 5 (SUN5) mutations associated with the outcomes of ICSI in patients with acephalic spermatozoa syndrome (ASS)? SUMMARY ANSWER: Despite highly abnormal sperm morphology, ASS patients with SUN5 mutations have a favorable pregnancy outcome following ICSI. WHAT IS KNOWN ALREADY: ASS is a rare cause of infertility characterized by the production of a majority of headless spermatozoa, along with a small proportion of intact spermatozoa with an abnormal head-tail junction...
January 10, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29329339/accessibility-and-contribution-to-glucan-masking-of-natural-and-genetically-tagged-versions-of-yeast-wall-protein-1-of-candida-albicans
#17
Bruce L Granger
Yeast wall protein 1 (Ywp1) is an abundant glycoprotein of the cell wall of the yeast form of Candida albicans, the most prevalent fungal pathogen of humans. Antibodies that bind to the polypeptide backbone of isolated Ywp1 show little binding to intact yeast cells, presumably because the Ywp1 epitopes are masked by the polysaccharides of the mannoproteins that form the outer layer of the cell wall. Rare cells do exhibit much greater anti-Ywp1 binding, however, and one of these was isolated and characterized...
2018: PloS One
https://www.readbyqxmd.com/read/29329004/contemporary-enzyme-based-technologies-for-bioremediation-a-review
#18
REVIEW
Babita Sharma, Arun Kumar Dangi, Pratyoosh Shukla
The persistent disposal of xenobiotic compounds like insecticides, pesticides, fertilizers, plastics and other hydrocarbon containing substances is the major source of environmental pollution which needs to be eliminated. Many contemporary remediation methods such as physical, chemical and biological are currently being used, but they are not sufficient to clean the environment. The enzyme based bioremediation is an easy, quick, eco-friendly and socially acceptable approach used for the bioremediation of these recalcitrant xenobiotic compounds from the natural environment...
January 9, 2018: Journal of Environmental Management
https://www.readbyqxmd.com/read/29327647/afrina-sporoboliae-sp-n-nematoda-anguinidae-associated-with-sporobolus-cryptandrus-torr-a-gray-from-idaho-usa-phylogenetic-relationships-and-population-structure
#19
Bianca L Barrantes-Infante, Brenda K Schroeder, Sergei A Subbotin, Timothy D Murray
The dropseed gall-forming nematode, Afrina sporoboliae sp. n., is described from seed galls of Sporobolus cryptandrus (Poaceae: Chloridoideae: Sporobolinae) collected in Idaho, USA. This is the third report of an Afrina species in North America and the first report of this genus in a natural plant population on this continent. Morphological, morphometric, and molecular analyses placed this nematode in genus Afrina and demonstrated that it differs from Af. hyparrheniae and Af. spermophaga by having longer body and stylet lengths for females and males, and from Af...
January 12, 2018: Phytopathology
https://www.readbyqxmd.com/read/29326479/artificial-barriers-prevent-genetic-recovery-of-small-isolated-populations-of-a-low-mobility-freshwater-fish
#20
R A Coleman, B Gauffre, A Pavlova, L B Beheregaray, J Kearns, J Lyon, M Sasaki, R Leblois, C Sgro, P Sunnucks
Habitat loss and fragmentation often result in small, isolated populations vulnerable to environmental disturbance and loss of genetic diversity. Low genetic diversity can increase extinction risk of small populations by elevating inbreeding and inbreeding depression, and reducing adaptive potential. Due to their linear nature and extensive use by humans, freshwater ecosystems are especially vulnerable to habitat loss and fragmentation. Although the effects of fragmentation on genetic structure have been extensively studied in migratory fishes, they are less understood in low-mobility species...
January 12, 2018: Heredity
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