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genetic differentiation

Milton Cordeiro, Ana Rita Otrelo-Cardoso, Dmitri I Svergun, Petr V Konarev, João Carlos Lima, Teresa Santos-Silva, Pedro Viana Baptista
Selective base pairing is the foundation of DNA recognition. Here, we elucidate the molecular and structural details of a FRET-based two-component molecular beacon relying on Steady-state Fluorescence Spectroscopy, Small-angle X-ray Scattering (SAXS), Microscale Thermophoresis (MST) and Differential Electrophoretic Mobility. This molecular beacon was designed to detect the most common fusion sequences causing chronic myeloid leukemia, e14a2 and e13a2. The emission spectra indicate that the self-assembly of the different components of the biosensor occurs sequentially, triggered by the fully complementary target...
March 21, 2018: ACS Chemical Biology
Pavla Bartošová-Sojková, Alena Lövy, Cecile C Reed, Martina Lisnerová, Tereza Tomková, Astrid S Holzer, Ivan Fiala
INTRODUCTION: Intertidal rock pools where fish and invertebrates are in constant close contact due to limited space and water level fluctuations represent ideal conditions to promote life cycles in parasites using these two alternate hosts and to study speciation processes that could contribute to understanding the roles of parasitic species in such ecosystems. MATERIAL AND METHODS: Gall bladder and liver samples from five clinid fish species (Blenniiformes: Clinidae) were morphologically and molecularly examined to determine the diversity, prevalence, distribution and host specificity of Ceratomyxa parasites (Cnidaria: Myxozoa) in intertidal habitats along the coast of South Africa...
2018: PloS One
Kanchan Thapa, Sulochana Manandhar, Manisha Bista, Jivan Shakya, Govind Sah, Maheshwar Dhakal, Netra Sharma, Bronwyn Llewellyn, Claudia Wultsch, Lisette P Waits, Marcella J Kelly, Jean-Marc Hero, Jane Hughes, Dibesh Karmacharya
With fewer than 200 tigers (Panthera tigris tigris) left in Nepal, that are generally confined to five protected areas across the Terai Arc Landscape, genetic studies are needed to provide crucial information on diversity and connectivity for devising an effective country-wide tiger conservation strategy. As part of the Nepal Tiger Genome Project, we studied landscape change, genetic variation, population structure, and gene flow of tigers across the Terai Arc Landscape by conducting Nepal's first comprehensive and systematic scat-based, non-invasive genetic survey...
2018: PloS One
Narmada Sambaturu, Sumanta Mukherjee, Martín López-García, Carmen Molina-París, Gautam I Menon, Nagasuma Chandra
Genetic differences contribute to variations in the immune response mounted by different individuals to a pathogen. Such differential response can influence the spread of infectious disease, indicating why such diseases impact some populations more than others. Here, we study the impact of population-level genetic heterogeneity on the epidemic spread of different strains of H1N1 influenza. For a population with known HLA class-I allele frequency and for a given H1N1 viral strain, we classify individuals into sub-populations according to their level of susceptibility to infection...
March 21, 2018: PLoS Computational Biology
Mindy Elizabeth Hair, Adrianna I Mathis, Erica K Brunelle, Lenka Halámková, Jan Halámek
Sweat is a biological fluid present on the skin surface of every individual and is known to contain amino acids as well as other low molecular weight compounds. Each individual is inherently different from one another based on certain factors including, but not limited to, his/her genetic make-up, environment, and lifestyle. As such, the biochemical composition of each person greatly differs. The concentrations of the biochemical content within an individual's sweat are largely controlled by metabolic processes within the body that fluctuate regularly based on attributes such as age, gender, and activity levels...
March 21, 2018: Analytical Chemistry
Meghan R Swanson, Mark D Shen, Jason J Wolff, Jed T Elison, Robert W Emerson, Martin A Styner, Heather C Hazlett, Kinh Truong, Linda R Watson, Sarah Paterson, Natasha Marrus, Kelly N Botteron, Juhi Pandey, Robert T Schultz, Stephen R Dager, Lonnie Zwaigenbaum, Annette M Estes, Joseph Piven
BACKGROUND: Younger siblings of children with autism spectrum disorder (ASD) are themselves at increased risk for ASD and other developmental concerns. It is unclear if infants who display developmental concerns, but are unaffected by ASD, share similar or dissimilar behavioral and brain phenotypes to infants with ASD. Most individuals with ASD exhibit heterogeneous difficulties with language, and their receptive-expressive language profiles are often atypical. Yet, little is known about the neurobiology that contributes to these language difficulties...
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
Bridget W Brox, Bart A Ellenbroek
BACKGROUND: Despite ongoing study and research to better understand drug addiction, it continues to be a heavy burden. Only a small percentage of individuals who take drugs of abuse go on to develop addiction. However, there is growing evidence to suggest that a reduction in the serotonin transporter may play an important role for those that transition to compulsive drug taking. Studies have demonstrated that reduced serotonin transporter function potentiates self-administration of psychostimulant drugs ("ecstasy," MDMA; cocaine); however, additional research revealed no differences between genotypes when the opioid heroin was self-administered...
March 21, 2018: Psychopharmacology
Arjan van Zeijl, Titis A K Wardhani, Maryam Seifi Kalhor, Luuk Rutten, Fengjiao Bu, Marijke Hartog, Sidney Linders, Elena E Fedorova, Ton Bisseling, Wouter Kohlen, Rene Geurts
Parasponia represents five fast-growing tropical tree species in the Cannabaceae and is the only plant lineage besides legumes that can establish nitrogen-fixing nodules with rhizobium. Comparative analyses between legumes and Parasponia allows identification of conserved genetic networks controlling this symbiosis. However, such studies are hampered due to the absence of powerful reverse genetic tools for Parasponia . Here, we present a fast and efficient protocol for Agrobacterium tumefaciens -mediated transformation and CRISPR/Cas9 mutagenesis of Parasponia andersonii ...
2018: Frontiers in Plant Science
Eleni Zengini, Konstantinos Hatzikotoulas, Ioanna Tachmazidou, Julia Steinberg, Fernando P Hartwig, Lorraine Southam, Sophie Hackinger, Cindy G Boer, Unnur Styrkarsdottir, Arthur Gilly, Daniel Suveges, Britt Killian, Thorvaldur Ingvarsson, Helgi Jonsson, George C Babis, Andrew McCaskie, Andre G Uitterlinden, Joyce B J van Meurs, Unnur Thorsteinsdottir, Kari Stefansson, George Davey Smith, Jeremy M Wilkinson, Eleftheria Zeggini
Osteoarthritis is a common complex disease imposing a large public-health burden. Here, we performed a genome-wide association study for osteoarthritis, using data across 16.5 million variants from the UK Biobank resource. After performing replication and meta-analysis in up to 30,727 cases and 297,191 controls, we identified nine new osteoarthritis loci, in all of which the most likely causal variant was noncoding. For three loci, we detected association with biologically relevant radiographic endophenotypes, and in five signals we identified genes that were differentially expressed in degraded compared with intact articular cartilage from patients with osteoarthritis...
March 20, 2018: Nature Genetics
Xiaomu Wei, M Nieves Calvo-Vidal, Siwei Chen, Gang Wu, Maria V Revuelta, Jian Sun, Jinghui Zhang, Michael F Walsh, Kim E Nichols, Vijai Joseph, Carrie Snyder, Celine M Vachon, James D McKay, Shu-Ping Wang, David S Jayabalan, Lauren M Jacobs, Dina Becirovic, Rosalie G Waller, Mykyta Artomov, Agnes Viale, Jayeshkumar Patel, Jude M Phillip, Selina Chen-Kiang, Karen Curtin, Mohamed Salama, Djordje Atanackovic, Ruben Niesvizky, Ola Landgren, Susan L Slager, Lucy A Godley, Jane Churpek, Judy E Garber, Kenneth C Anderson, Mark J Daly, Robert G Roeder, Charles Dumontet, Henry T Lynch, Charles G Mullighan, Nicola J Camp, Kenneth Offit, Robert J Klein, Haiyuan Yu, Leandro Cerchietti, Steven M Lipkin
Given the frequent and largely incurable occurrence of multiple myeloma (MM), identification of germline genetic mutations that predispose cells to MM may provide insight into disease etiology and the developmental mechanisms of its cell of origin, the plasma cell. Here we identified familial and early-onset MM kindreds with truncating mutations in lysine-specific demethylase 1 (LSD1/KDM1A), an epigenetic transcriptional repressor that primarily demethylates histone H3 on lysine 4 and regulates hematopoietic stem cell self-renewal...
March 20, 2018: Cancer Research
João Perdigão, Carla Silva, Jaciara Diniz, Catarina Pereira, Diana Machado, Jorge Ramos, Hugo Silva, Fernanda Abilleira, Clarice Brum, Ana J Reis, Maíra Macedo, João L Scaini, Ana B Silva, Leonardo Esteves, Rita Macedo, Fernando Maltez, Sofia Clemente, Elizabeth Coelho, Sofia Viegas, Paulo Rabna, Amabélia Rodrigues, Nuno Taveira, Luísa Jordao, Afrânio Kritski, José Lapa E Silva, Igor Mokrousov, David Couvin, Nalin Rastogi, Isabel Couto, Arnab Pain, Ruth McNerney, Taane G Clark, Andrea von Groll, Elis R Dalla-Costa, Maria Lúcia Rossetti, Pedro E A da Silva, Miguel Viveiros, Isabel Portugal
Tuberculosis (TB) remains a major health problem within the Community of Portuguese Language Speaking Countries (CPLP). Despite the marked variation in TB incidence across its member-states and continued human migratory flux between countries, a considerable gap in the knowledge on the Mycobacterium tuberculosis population structure and strain circulation between the countries still exists. To address this, we have assembled and analysed the largest CPLP M. tuberculosis molecular and drug susceptibility dataset, comprised by a total of 1447 clinical isolates, including 423 multidrug-resistant isolates, from five CPLP countries...
March 17, 2018: Infection, Genetics and Evolution
Jason Hellmann, Brian E Sansbury, Blenda Wong, Xiaofeng Li, Mansher Singh, Kristo Nuutila, Nan Chiang, Elof Eriksson, Charles N Serhan, Matthew Spite
Cutaneous injury causes underlying tissue damage that must be quickly repaired to minimize exposure to pathogens and to restore barrier function. While the role of growth factors in tissue repair is established, the role of lipid mediators in skin repair has not been extensively investigated. Using a mass spectrometry-based lipid mediator metabolomics approach, we identified D-series resolvins and related pro-resolving lipid mediators during skin injury in mice and pigs. Differentiation of human epidermal keratinocytes increased expression of 15-lipoxygenase and stereospecific production of 17S-hydroxydocosahexaenoic acid, the common upstream biosynthetic marker and precursor of D-series resolvins...
March 17, 2018: Journal of Investigative Dermatology
Ana Flores-Justa, Elena López-García, Alfredo García-Allut, Rosa María Reyes-Santías
Solitary fibrous tumours/haemangiopericytomas (SFT/HPC) are fibroblastic mesenchymal neoplasms that harbour a genetic fusion of NAB2/STAT6. There are few reported cases in the central nervous system (CNS), of which spinal tumours are minority. We present a case of a 63-year-old woman with progressive paraparesis and a sensory level of T6. On the MRI we detected an intradural extramedullary lesion on T9-T10. We performed a laminectomy with an intraoperative ultrasound study in which we observed a heterogeneous lesion with an infiltrating pattern affecting the medulla at several points, and resection of the lesion...
March 17, 2018: Neurocirugía
Joery Goossens, Maria Bjerke, Sara Van Mossevelde, Tobi Van den Bossche, Johan Goeman, Bart De Vil, Anne Sieben, Jean-Jacques Martin, Patrick Cras, Peter Paul De Deyn, Christine Van Broeckhoven, Julie van der Zee, Sebastiaan Engelborghs
BACKGROUND: We explored the diagnostic performance of cerebrospinal fluid (CSF) biomarkers in allowing differentiation between frontotemporal lobar degeneration (FTLD) and Alzheimer's disease (AD), as well as between FTLD pathological subtypes. METHODS: CSF levels of routine AD biomarkers (phosphorylated tau (p-tau181 ), total tau (t-tau), and amyloid-beta (Aβ)1-42 ) and neurofilament proteins, as well as progranulin levels in both CSF and serum were quantified in definite FTLD (n = 46), clinical AD (n = 45), and cognitively healthy controls (n = 20)...
March 20, 2018: Alzheimer's Research & Therapy
Ross W Paterson, Catherine F Slattery, Teresa Poole, Jennifer M Nicholas, Nadia K Magdalinou, Jamie Toombs, Miles D Chapman, Michael P Lunn, Amanda J Heslegrave, Martha S Foiani, Philip S J Weston, Ashvini Keshavan, Jonathan D Rohrer, Martin N Rossor, Jason D Warren, Catherine J Mummery, Kaj Blennow, Nick C Fox, Henrik Zetterberg, Jonathan M Schott
BACKGROUND: Cerebrospinal fluid (CSF) biomarkers are increasingly being used to support a diagnosis of Alzheimer's disease (AD). Their clinical utility for differentiating AD from non-AD neurodegenerative dementias, such as dementia with Lewy bodies (DLB) or frontotemporal dementia (FTD), is less well established. We aimed to determine the diagnostic utility of an extended panel of CSF biomarkers to differentiate AD from a range of other neurodegenerative dementias. METHODS: We used immunoassays to measure conventional CSF markers of amyloid and tau pathology (amyloid beta (Aβ)1-42, total tau (T-tau), and phosphorylated tau (P-tau)) as well as amyloid processing (AβX-38, AβX-40, AβX-42, soluble amyloid precursor protein (sAPP)α, and sAPPβ), large fibre axonal degeneration (neurofilament light chain (NFL)), and neuroinflammation (YKL-40) in 245 patients with a variety of dementias and 30 controls...
March 20, 2018: Alzheimer's Research & Therapy
Akim Felipe Santos Nobre, Danilo de Souza Almeida, Louise Canto Ferreira, Deimy Lima Ferreira, Edivaldo Costa Sousa Júnior, Maria de Nazaré do Socorro de Almeida Viana, Ingrid Christiane Silva, Bruna Teles Pinheiro, Stephen Francis Ferrari, Alexandre da Costa Linhares, Edna Aoba Ishikawa, Rita Catarina Medeiros Sousa, Maísa Silva de Sousa
The Human T-cell Lymphotropic Virus (HTLV-1) is a Deltaretrovírus that was first isolated in the 1970s, and associated with Adult T-cell Leucemia-Lymphoma (ATLL), and subsequently to Tropical Spastic Paraparesis-Myelopathy (TSP/HAM). The genetic diversity of the virus varies among geographic regions, although its mutation rate is very low (approximately 1% per thousand years) in comparison with other viruses. The present study determined the genetic diversity of HTLV-1 in the metropolitan region of Belém, in northern Brazil...
2018: PloS One
Han-Yu Jiang, Jin-Lin Zhang, Jiang-Wei Yang, Hui-Ling Ma
Creeping bentgrass ( Agrostis stolonifera ) is the preferred green lawn grass, with excellent turf characteristics but poor disease resistance. At present, the mechanisms of disease resistance in creeping bentgrass are poorly understood, especially the ethylene signal transduction pathway under the induced systemic resistance (ISR) response. In this study, butanediol (BDO), as a new type of disease-resistance compound, was applied to creeping bentgrass seedlings to induce the ISR response. Then, we measured ethylene production and related enzyme activities...
March 20, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Quanwei Zhang, Qi Wang, Jishang Gong, Jiaxing Du, Yong Zhang, Xingxu Zhao
Insulin-like growth factor 2 (IGF2) recapitulates many of the activities of insulin and promotes differentiation of myoblasts and osteoblasts, which likely contribute to genetic variations of growth potential. However, little is known about the functions and signaling properties of IGF2 variants in yaks. The over-expression vector and knockdown sequence of yak IGF2 were transfected into yak fibroblasts, and the effects were detected by a series of assays. IGF2 expression in yak muscle tissues was significantly lower than that of other tissues...
March 20, 2018: Genes
Izabela Łaczmańska, Justyna Kuliczkowska-Płaksej, Agnieszka Stembalska
Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process...
March 14, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Kerri M Malone, Kévin Rue-Albrecht, David A Magee, Kevin Conlon, Olga T Schubert, Nicolas C Nalpas, John A Browne, Alicia Smyth, Eamonn Gormley, Ruedi Aebersold, David E MacHugh, Stephen V Gordon
Members of the Mycobacterium tuberculosis complex (MTBC) are the causative agents of tuberculosis in a range of mammals, including humans. A key feature of MTBC pathogens is their high degree of genetic identity yet distinct host tropism. Notably, while Mycobacterium bovis is highly virulent and pathogenic for cattle, the human pathogen M. tuberculosis is attenuated in cattle. Previous research also suggests that host preference amongst MTBC members has a basis in host innate immune responses. To explore MTBC host tropism, we present in-depth profiling of the MTBC reference strains M...
March 20, 2018: Microbial Genomics
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