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https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#1
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28342052/arsenic-concentrations-in-local-aromatic-and-high-yielding-hybrid-rice-cultivars-and-the-potential-health-risk-a-study-in-an-arsenic-hotspot
#2
Arifin Sandhi, Maria Greger, Tommy Landberg, Gunnar Jacks, Prosun Bhattacharya
The presence of high levels of arsenic (As) in rice fields has negative effects on the health of those consuming rice as their subsistence food. This study determined the variation in total As concentration in local aromatic rice (LAR) (kalijira) and two high-yielding varieties (HYVs) (BRRI dhan 32 and BRRI dhan 28) grown in paddy fields in Matlab, Bangladesh, an As hotspot with elevated As levels in groundwater. Mature rice grain samples and soil samples were collected from different paddy fields, and the As concentrations in both the de-husked grains and the husks of the three rice cultivars were analysed to identify the safest of the three cultivars for human consumption...
April 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28341706/partner-abundance-controls-mutualism-stability-and-the-pace-of-morphological-change-over-geologic-time
#3
Guillaume Chomicki, Susanne S Renner
Mutualisms that involve symbioses among specialized partners may be more stable than mutualisms among generalists, and theoretical models predict that in many mutualisms, partners exert reciprocal stabilizing selection on traits directly involved in the interaction. A corollary is that mutualism breakdown should increase morphological rates of evolution. We here use the largest ant-plant clade (Hydnophytinae), with different levels of specialization for mutualistic ant symbionts, to study the ecological context of mutualism breakdown and the response of a key symbiosis-related trait, domatium entrance hole size, which filters symbionts by size...
March 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28341628/species-richness-and-endemism-in-the-native-flora-of-california
#4
Bruce G Baldwin, Andrew H Thornhill, William A Freyman, David D Ackerly, Matthew M Kling, Naia Morueta-Holme, Brent D Mishler
PREMISE OF THE STUDY: California's vascular flora is the most diverse and threatened in temperate North America. Previous studies of spatial patterns of Californian plant diversity have been limited by traditional metrics, non-uniform geographic units, and distributional data derived from floristic descriptions for only a subset of species. METHODS: We revisited patterns of sampling intensity, species richness, and relative endemism in California based on equal-area spatial units, the full vascular flora, and specimen-based distributional data...
March 24, 2017: American Journal of Botany
https://www.readbyqxmd.com/read/28340771/a-dnazyme-sensor-based-on-target-catalyzed-hairpin-assembly-for-enzyme-free-and-non-label-single-nucleotide-polymorphism-genotyping
#5
Huiyan Xu, Qiwang Wu, Hong Shen
Single nucleotide polymorphisms (SNPs) are widely existed in human genome and associated with many diseases. Traditional PCR-based methods for SNP genotyping require protein enzyme, precise control of temperature and removal of resultant products, making the whole process labor intensive and time consuming. Although G-quadruplex DNAzyme-based assays provide many advantages over traditional approaches, the relatively low catalytic activity of DNAzyme becomes an unfavorable factor in its application process. Therefore, amplification of DNAzyme for further determination is of great desire in bioanalysis...
May 15, 2017: Talanta
https://www.readbyqxmd.com/read/28340414/intersection-crash-prediction-modeling-with-macro-level-data-from-various-geographic-units
#6
Jaeyoung Lee, Mohamed Abdel-Aty, Qing Cai
There have been great efforts to develop traffic crash prediction models for various types of facilities. The crash models have played a key role to identify crash hotspots and evaluate safety countermeasures. In recent, many macro-level crash prediction models have been developed to incorporate highway safety considerations in the long-term transportation planning process. Although the numerous macro-level studies have found that a variety of demographic and socioeconomic zonal characteristics have substantial effects on traffic safety, few studies have attempted to coalesce micro-level with macro-level data from existing geographic units for estimating crash models...
March 21, 2017: Accident; Analysis and Prevention
https://www.readbyqxmd.com/read/28340083/evaluating-the-patterns-of-aging-related-tau-astrogliopathy-unravels-novel-insights-into-brain-aging-and-neurodegenerative-diseases
#7
Gabor G Kovacs, John L Robinson, Sharon X Xie, Edward B Lee, Murray Grossman, David A Wolk, David J Irwin, Dan Weintraub, Christopher F Kim, Theresa Schuck, Ahmed Yousef, Stephanie T Wagner, Eunran Suh, Vivianna M Van Deerlin, Virginia M-Y Lee, John Q Trojanowski
The term "aging-related tau astrogliopathy" (ARTAG) describes pathological accumulation of abnormally phosphorylated tau protein in astrocytes. We evaluated the correlates of ARTAG types (i.e., subpial, subependymal, white and gray matter, and perivascular) in different neuroanatomical regions. Clinical, neuropathological, and genetic (eg, APOE ε4 allele, MAPT H1/H2 haplotype) data from 628 postmortem brains from subjects were investigated; most of the patients had been longitudinally followed at the University of Pennsylvania...
March 14, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#8
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28338798/genetic-dissection-of-metabolite-variation-in-arabidopsis-seeds-evidence-for-mqtl-hotspots-and-a-master-regulatory-locus-of-seed-metabolism
#9
Dominic Knoch, David Riewe, Rhonda Christiane Meyer, Anastassia Boudichevskaia, Renate Schmidt, Thomas Altmann
To gain insight into genetic factors controlling seed metabolic composition and its relationship to major seed properties, an Arabidopsis recombinant inbred line (RIL) population, derived from accessions Col-0 and C24, was studied using an MS-based metabolic profiling approach. Relative intensities of 311 polar primary metabolites were used to identify associated genomic loci and to elucidate their interactions by quantitative trait locus (QTL) mapping. A total of 786 metabolic QTLs (mQTLs) were unequally distributed across the genome, forming several hotspots...
March 6, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28338740/the-role-of-vip-in-social-behavior-neural-hotspots-for-the-modulation-of-affiliation-aggression-and-parental-care
#10
Marcy A Kingsbury, Leah C Wilson
Although the modulation of social behaviors by most major neurochemical systems has been explored, there are still standouts, including the study of vasoactive intestinal polypeptide (VIP). VIP is a modulator of circadian, reproductive, and seasonal rhythms and is well known for its role in reproductive behavior, as it is the main vertebrate prolactin-releasing hormone. Originally isolated as a gut peptide, VIP and its cognate receptors are present in virtually every brain area that is important for social behavior, including all nodes of the core "social behavior network" (SBN)...
December 16, 2016: Integrative and Comparative Biology
https://www.readbyqxmd.com/read/28337568/hospital-microbial-surface-colonization-revealed-during-monitoring-of-klebsiella-spp-pseudomonas-aeruginosa-and-non-tuberculous-mycobacteria
#11
Pedro Geadas Farias, Fernando Gama, Diogo Reis, Susana Alarico, Nuno Empadinhas, José Carlos Martins, Ana Figueiredo de Almeida, Paula Vasconcelos Morais
Hospital environmental conditions, human occupancy, and the characteristics of the equipment influence the survival of microbial communities and raise a concern with regard to nosocomial infections. The objective of the present work was to use the monitoring of Pseudomonas aeruginosa, Klebsiella spp. and non-tuberculous mycobacteria as a strategy to improve knowledge on microbial colonization of non-critical equipment and surfaces, in a tertiary hospital from Central Portugal. A 3-month microbiological survey was performed in a district teaching hospital...
March 23, 2017: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/28336543/in-vivo-binding-of-prdm9-reveals-interactions-with-noncanonical-genomic-sites
#12
Corinne Grey, Julie A J Clément, Jérôme Buard, Benjamin Leblanc, Ivo Gut, Marta Gut, Laurent Duret, Bernard de Massy
In mouse and human meiosis, DNA double-strand breaks (DSBs) initiate homologous recombination and occur at specific sites called hotspots. The localization of these sites is determined by the sequence-specific DNA binding domain of the PRDM9 histone methyl transferase. Here, we performed an extensive analysis of PRDM9 binding in mouse spermatocytes. Unexpectedly, we identified a noncanonical recruitment of PRDM9 to sites that lack recombination activity and the PRDM9 binding consensus motif. These sites include gene promoters, where PRDM9 is recruited in a DSB-dependent manner...
March 23, 2017: Genome Research
https://www.readbyqxmd.com/read/28336097/ranking-current-and-prospective-no2-pollution-mitigation-strategies-an-environmental-and-economic-modelling-investigation-in-oxford-street-london
#13
A P R Jeanjean, J Gallagher, P S Monks, R J Leigh
Air pollution continues to be a problem in the urban environment. A range of different pollutant mitigation strategies that promote dispersion and deposition exist, but there is little evidence with respect to their comparative performance from both an environmental and economic perspective. This paper focuses on examining different NO2 mitigation strategies such as trees, buildings facades coated with photocatalytic paint and solid barriers in Oxford Street in London. The case study findings will support ranking the environmental and economic impacts of these different strategies to improve personal exposure conditions on the footpath and on the road in a real urban street canyon...
March 21, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28334873/alternative-dna-structure-formation-in-the-mutagenic-human-c-myc-promoter
#14
Imee Marie A Del Mundo, Maha Zewail-Foote, Sean M Kerwin, Karen M Vasquez
Mutation 'hotspot' regions in the genome are susceptible to genetic instability, implicating them in diseases. These hotspots are not random and often co-localize with DNA sequences potentially capable of adopting alternative DNA structures (non-B DNA, e.g. H-DNA and G4-DNA), which have been identified as endogenous sources of genomic instability. There are regions that contain overlapping sequences that may form more than one non-B DNA structure. The extent to which one structure impacts the formation/stability of another, within the sequence, is not fully understood...
February 21, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28334755/tracking-fluctuation-hotspots-on-the-yeast-ribosome-through-the-elongation-cycle
#15
Suna P Gulay, Sujal Bista, Amitabh Varshney, Serdal Kirmizialtin, Karissa Y Sanbonmatsu, Jonathan D Dinman
Chemical modification was used to quantitatively determine the flexibility of nearly the entire rRNA component of the yeast ribosome through 8 discrete stages of translational elongation, revealing novel observations at the gross and fine-scales. These include (i) the bulk transfer of energy through the intersubunit bridges from the large to the small subunit after peptidyltransfer, (ii) differences in the interaction of the sarcin ricin loop with the two elongation factors and (iii) networked information exchange pathways that may functionally facilitate intra- and intersubunit coordination, including the 5...
February 21, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28334265/evaluation-of-malaise-and-yellow-pan-trap-performance-to-assess-velvet-ant-hymenoptera-mutillidae-diversity-in-a-neotropical-savanna
#16
C R Vieira, C Waichert, K A Williams, J P Pitts
Given the global biodiversity crisis, it is crucial to identify methods best suited for conducting inventories. We evaluated the relative merits of Malaise traps (MT) and ground-level yellow pan traps (YPT) to sample male velvet ants (Hymenoptera: Mutillidae) in a Neotropical savanna biodiversity hotspot. We compared richness, number of captures, evenness, composition, and body size of male velvet ants (Hymenoptera: Mutillidae) sampled with both methods in four sites at Parque Nacional da Chapada dos Veadeiros, central Brazil, during 19 d...
March 6, 2017: Environmental Entomology
https://www.readbyqxmd.com/read/28334104/endemism-hotspots-are-linked-to-stable-climatic-refugia
#17
(no author information available yet)
No abstract text is available yet for this article.
February 22, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28333395/small-molecules-belowground-the-role-of-specialized-metabolites-in-the-rhizosphere
#18
Hassan Massalha, Elisa Korenblum, Dorothea Tholl, Asaph Aharoni
Soil communities are diverse taxonomically and functionally. This ecosystem experiences highly complex networks of interactions, but may also present functionally independent entities. Plant roots, a metabolically active hotspot in the soil, take an essential part in belowground interactions. While plants are known to release an extremely high portion of the fixated carbon to the soil, less is known about the composition and role of C-containing compounds in the rhizosphere, in particular those involved in chemical communication...
March 23, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28333372/characterisation-and-functional-mapping-of-surface-potentials-in-the-rat-dorsal-column-nuclei
#19
Alastair J Loutit, Ted Maddess, Stephen J Redmond, John W Morley, Greg J Stuart, Jason R Potas
The brainstem dorsal column nuclei (DCN) play a role in early processing of somatosensory information arising from a variety of functionally distinct peripheral structures, before being transmitted to the cortex via the thalamus. To improve our understanding of how sensory information is represented by the DCN, we characterised and mapped low- (<200 Hz) and high-frequency (550-3300 Hz) components of nerve-evoked DCN surface potentials. DCN surface potentials were evoked by electrical stimulation of the left and right nerves innervating cutaneous (sural nerve), or a mix of cutaneous and deep structures (peroneal nerve), in 8 week-old urethane anaesthetised male Wistar rats...
March 23, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28333080/a-review-epigenetic-mechanism-in-ochratoxin-a-toxicity-studies
#20
REVIEW
Liye Zhu, Boyang Zhang, Yaqi Dai, Hongyu Li, Wentao Xu
Ochratoxin A (OTA) is a natural contaminant that has displayed nephrotoxicity and hepatotoxicity in mammals. It contaminates a great variety of foodstuffs and threatens people's lives. The molecular mechanism of OTA-induced toxicity has been studied since 1965. Moreover, epigenetic mechanisms are also studied in OTA-induced toxicity. Additionally, the mode of OTA epigenetic research has been advanced in research hotspots. However, there is still no epigenetic study of OTA-induced toxicity. In this review, we discuss the relationship between these epigenetic mechanisms and OTA-induced toxicity...
March 23, 2017: Toxins
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