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https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#1
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717650/removal-of-cu-zn-pb-and-cr-from-yangtze-estuary-using-the-phragmites-australis-artificial-floating-wetlands
#2
Xiaofeng Huang, Feng Zhao, Gao Yu, Chao Song, Zhi Geng, Ping Zhuang
Contamination of heavy metals would threaten the water and soil resources; phytoremediation can be potentially used to remediate metal contaminated sites. We constructed the Phragmites australis artificial floating wetlands outside the Qingcaosha Reservoir in the Yangtze Estuary. Water characteristic variables were measured in situ by using YSI Professional Pro Meter. Four heavy metals (copper, zinc, lead, and chromium) in both water and plant tissues were determined. Four heavy metals in estuary water were as follows: 0...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28710983/seasonal-variation-of-bacterial-community-in-biological-aerated-filter-for-ammonia-removal-in-drinking-water-treatment
#3
Hongyuan Liu, Liying Zhu, Xiaohe Tian, Yeshi Yin
Biological aerated filter (BAF) is widely used in wastewater treatment plants (WWTPs) and shows potential application of micropolluted drinking water sources with a higher NH4(+)-N removal efficiency during short warm seasons. Here we adopted a pilot lava-based BAF setup as a pretreatment unit of drinking water treatment plant (DWTP) and achieved a great performance of ammonia removal over a two-year operation using natural river water. We respectively observed 92.62% of NH4(+)-N removal efficiency, 97.88% of NO2(-)-N removal efficiency in summer, and 77...
July 10, 2017: Water Research
https://www.readbyqxmd.com/read/28709072/stimulation-effect-of-electric-current-density-ecd-on-microbial-community-of-a-three-dimensional-particle-electrode-coupled-with-biological-aerated-filter-reactor-tde-baf
#4
Yan Feng, Xing Li, Ting Song, Yanzhen Yu, Jingyao Qi
Improving the stimulation effect of electric current density (ECD) on microbial community is critical in designing and operating TDE-BAF. This study investigated the effect of ECD at 0.00, 4.08, 6.12, 12.20, 14.25, 16.30 and 20.20A·m(-2) on the removal performance, diversity and structure of microbial community in TDE-BAF. Results indicated that the ECD of 14.25A·m(-2) exhibited the highest COD, TOC and NH4(+)-N average removal rates with 93.33%, 91.26% and 93.87%, respectively; Under high ECD, especially exceeding 14...
July 1, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/28709038/rare-earths-zirconium-and-hafnium-distribution-in-coastal-areas-the-example-of-sabella-spallanzanii-gmelin-1791
#5
M G Parisi, I Cammarata, M Cammarata, V Censi
The Zr, Hf, Y and lanthanide (REE) distribution in biological tissues of Sabella spallanzanii and Styela plicata species collected from two harbours from the northern Sicily is studied for providing information regarding the Zr, Hf and REE uptake from the environment. Previous studies determined the fractionation of dissolved REE scavenged on binding sites onto biological surfaces. By comparing the recognised shale-normalised REE patterns of studied samples with evidence from reference data, the observed behaviour of these elements in biological tissues of Sabella spallanzanii and Styela plicata is interpreted to result from the preferential uptake of intermediate REE onto carboxylic sites...
July 6, 2017: Chemosphere
https://www.readbyqxmd.com/read/28706277/dna-binding-drives-the-association-of-brg1-hbrm-bromodomains-with-nucleosomes
#6
Emma A Morrison, Julio C Sanchez, Jehnna L Ronan, Daniel P Farrell, Katayoun Varzavand, Jenna K Johnson, Brian X Gu, Gerald R Crabtree, Catherine A Musselman
BRG1 and BRM, central components of the BAF (mSWI/SNF) chromatin remodelling complex, are critical in chromatin structure regulation. Here, we show that the human BRM (hBRM) bromodomain (BRD) has moderate specificity for H3K14ac. Surprisingly, we also find that both BRG1 and hBRM BRDs have DNA-binding activity. We demonstrate that the BRDs associate with DNA through a surface basic patch and that the BRD and an adjacent AT-hook make multivalent contacts with DNA, leading to robust affinity and moderate specificity for AT-rich elements...
July 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28692054/modeling-cancer-driver-events-in-vitro-using-barrier-bypass-clonal-expansion-assays-and-massively-parallel-sequencing
#7
H Huskova, M Ardin, A Weninger, K Vargova, S Barrin, S Villar, M Olivier, T Stopka, Z Herceg, M Hollstein, J Zavadil, M Korenjak
The information on candidate cancer driver alterations available from public databases is often descriptive and of limited mechanistic insight, which poses difficulties for reliable distinction between true driver and passenger events. To address this challenge, we performed in-depth analysis of whole-exome sequencing data from cell lines generated by a barrier bypass-clonal expansion (BBCE) protocol. The employed strategy is based on carcinogen-driven immortalization of primary mouse embryonic fibroblasts and recapitulates early steps of cell transformation...
July 10, 2017: Oncogene
https://www.readbyqxmd.com/read/28688381/zeroth-order-regular-approximation-approach-to-electric-dipole-moment-interactions-of-the-electron
#8
Konstantin Gaul, Robert Berger
A quasi-relativistic two-component approach for an efficient calculation of P,T-odd interactions caused by a permanent electric dipole moment of the electron (eEDM) is presented. The approach uses a (two-component) complex generalized Hartree-Fock and a complex generalized Kohn-Sham scheme within the zeroth order regular approximation. In applications to select heavy-elemental polar diatomic molecular radicals, which are promising candidates for an eEDM experiment, the method is compared to relativistic four-component electron-correlation calculations and confirms values for the effective electric field acting on the unpaired electron for RaF, BaF, YbF, and HgF...
July 7, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28684548/lem-domain-proteins-are-lost-during-human-spermiogenesis-but-baf-and-baf-l-persist
#9
Razan A Elkhatib, Marine Paci, Romain Boissier, Guy Longepied, Yasmina Auguste, Vincent Achard, Patrice Bourgeois, Nicolas Levy, Nicolas Branger, Michael J Mitchell, Catherine Metzler-Guillemain
During spermiogenesis the spermatid nucleus is elongated, and dramatically reduced in size with protamines replacing histones to produce a highly compacted chromatin. After fertilisation, this process is reversed in the oocyte to form the male pronucleus. Emerging evidence, including the coordinated loss of the nuclear lamina (NL) and the histones, supports the involvement of the NL in spermatid nuclear remodelling, but how the NL links to the chromatin is not known. In somatic cells, interactions between the NL and the chromatin have been demonstrated: LEM-domain proteins and LBR interact with the NL and, respectively, the chromatin proteins BAF and HP1...
July 6, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28682597/the-effect-of-microplastic-on-the-uptake-of-chemicals-by-the-lugworm-arenicola-marina-l-under-environmentally-relevant-exposure-conditions
#10
Ellen Besseling, Edwin M Foekema, Martine J Van Den Heuvel-Greve, Albert A Koelmans
It has been hypothesized that ingestion of microplastic increases exposure of aquatic organisms to hydrophobic contaminants. To date, most laboratory studies investigated chemical transfer from ingested microplastic without taking other exposure pathways into account. Therefore we studied the effect of polyethylene (PE) microplastic in sediment on PCB uptake by Arenicola marina as a model species, quantifying uptake fluxes from all natural exposure pathways. PCB concentrations in sediment, biota lipids (Clip) and porewater measured with passive samplers were used to derive lipid-normalized bioaccumulation metrics Clip, Biota sediment accumulation factor (BSAF), Bioaccumulation factor (BAF) and the Biota plastic accumulation factor (BPAF)...
July 6, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28677040/bioaccumulation-and-potential-sources-of-heavy-metal-contamination-in-fish-species-in-taiwan-assessment-and-possible-human-health-implications
#11
Chi Thanh Vu, Chitsan Lin, Gavin Yeh, Maria Ching Villanueva
In this study, tissues of five fish species prevalent in the Houjing River were analyzed for heavy metal concentrations. Results show concentrations of such metals to be much higher than internationally recommended standard limits (as determined by the WHO and FAO) and other similar studies. Heavy metal contamination of fish in the Houjing River is hence significant. High hazard and carcinogenic risk related to the Houjing River's fish was proven based on target hazard quotient (THQ) and target cancer risk (TR) estimations...
July 4, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28667653/occurrence-of-bronchial-anthracofibrosis-in-respiratory-symptomatics-with-exposure-to-biomass-fuel-smoke
#12
Vikas Pilaniya, Shekhar Kunal, Ashok Shah
INTRODUCTION: Bronchial anthracofibrosis (BAF), confirmed bronchoscopically, is characterised by bluish-black mucosal pigmentation and distortion/narrowing of the bronchus. We investigated the occurrence of BAF in respiratory symptomatics with biomass fuel smoke exposure and evaluated its clinico-radiological attributes and impact on functional status. MATERIAL AND METHODS: Of the eighty subjects evaluated, 60 consented for fiberoptic bronchoscopy (FOB). All 60 subjects also underwent chest radiography, high resolution computed tomography (HRCT) of the thorax, complete pulmonary function testing including diffusion capacity and six-minute-walk test...
2017: Advances in Respiratory Medicine
https://www.readbyqxmd.com/read/28649782/heterozygous-variants-in-actl6a-encoding-a-component-of-the-baf-complex-are-associated-with-intellectual-disability
#13
Ronit Marom, Mahim Jain, Lindsay C Burrage, I-Wen Song, Brett H Graham, Chester W Brown, Servi J C Stevens, Alexander P A Stegmann, Andrew T Gunter, Julie D Kaplan, Ralitza H Gavrilova, Marwan Shinawi, Jill A Rosenfeld, Yangjin Bae, Alyssa A Tran, Yuqing Chen, James T Lu, Richard A Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B A de Vries, Philippe M Campeau, Brendan Lee
Pathogenic variants in genes encoding components of the BAF chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to β-actin and BRG1...
June 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28637768/vrk2a-is-an-a-type-lamin-dependent-nuclear-envelope-kinase-that-phosphorylates-baf
#14
K C Birendra, Danielle G May, Benjamin V Benson, Dae In Kim, Winnie G Shivega, Manaal H Ali, Randolph S Faustino, Alexandre R Campos, Kyle J Roux
The nuclear envelope (NE) is critical for numerous fundamental cellular functions and mutations in several NE constituents can lead to a heterogeneous spectrum of diseases. We used proximity biotinylation to uncover new constituents of the inner nuclear membrane (INM) by comparative BioID analysis of lamin-A, Sun2 and a minimal INM-targeting motif. These studies identified vaccinia-related kinase-2 (VRK2) as a candidate constituent of the INM. We determined that the transmembrane VRK2A isoform is retained at the NE by association with A-type lamins...
June 21, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28632841/green-light-autofluorescence-versus-combined-blue-light-autofluorescence-and-near-infrared-reflectance-imaging-in-geographic-atrophy-secondary-to-age-related-macular-degeneration
#15
COMPARATIVE STUDY
Maximilian Pfau, Lukas Goerdt, Steffen Schmitz-Valckenberg, Matthias M Mauschitz, Divyansh K Mishra, Frank G Holz, Moritz Lindner, Monika Fleckenstein
Purpose: To compare the intermodality and interreader agreement for geographic atrophy (GA) lesion size quantification in green-light fundus autofluorescence (GAF; excitation = 518 nm) versus combined blue-light fundus autofluorescence (BAF; excitation = 488 nm) and near-infrared reflectance (NIR; 820 nm) -based grading. Methods: Confocal scanning laser ophthalmoscopy (cSLO) GAF, BAF, and NIR images of 40 eyes from 29 patients (mean age 79.7 years) with GA secondary to AMD were recorded according to a standardized protocol...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28622553/toxic-responses-of-cytochrome-p450-sub-enzyme-activities-to-heavy-metals-exposure-in-soil-and-correlation-with-their-bioaccumulation-in-eisenia-fetida
#16
Xiufeng Cao, Ran Bi, Yufang Song
The dose- and time- dependent responses of cytochrome P450 (CYP) sub-enzyme activities to heavy metals in soil, and the relationships between biomarker responses and metal bioaccumulation in Eisenia fetida were evaluated. Earthworms were exposed to soils spiked with increasing doses of Cd, Cu, Pb or Zn for 21 d. Results demonstrated that EROD and CYP3A4 activities responded significantly with increasing dose and exposure duration. EROD activity significantly (P < 0.05) correlated with CYP3A4 activity exposed to Pb and Cu...
June 13, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28611094/agonist-specific-protein-interactomes-of-glucocorticoid-and-androgen-receptor-as-revealed-by-proximity-mapping
#17
Joanna K Lempiäinen, Einari A Niskanen, Kaisa-Mari Vuoti, Riikka E Lampinen, Helka Göös, Markku Varjosalo, Jorma J Palvimo
Glucocorticoid receptor (GR) and androgen receptor (AR) are steroid-inducible transcription factors (TFs). GR and AR are central regulators of various metabolic, homeostatic and differentiation processes and hence important therapeutic targets, especially in inflammation and prostate cancer, respectively. Hormone binding to these steroid receptors (SRs) leads to DNA binding and activation or repression of their target genes with the aid of interacting proteins, coregulators. However, protein interactomes of these important drug targets have remained poorly defined...
June 13, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28590357/rotem-significantly-optimizes-transfusion-practices-for-damage-control-resuscitation-in-combat-casualties
#18
Nicolas J Prat, Andrew D Meyer, Nichole K Ingalls, Julie Trichereau, Joseph J DuBose, Andrew P Cap
BACKGROUND: Up to 40% of combat casualties with a truncal injury die of massive hemorrhage before reaching a surgeon. This hemorrhage can be prevented with damage control resuscitation (DCR) methods, which are focused on replacing shed whole blood (WB) by empirically transfusing blood components in a 1:1:1:1 ratio of platelets:plasma:erythrocytes:cryoprecipitate (PLT:FFP:RBC:CRYO). Measurement of hemostatic function with thromboelastometry (ROTEM) may allow optimization of the type and quantity of blood products transfused...
June 6, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28584665/multimodal-imaging-in-an-unusual-cluster-of-multiple-evanescent-white-dot-syndrome
#19
Orly Gal-Or, Ethan Priel, Irit Rosenblatt, Shiri Shulman, Michal Kramer
OBJECTIVE: To describe an unusual cluster of multiple evanescent white dot syndrome (MEWDS) encountered within a 3-month period. METHODS: This retrospective observation study is comprised of seven patients who presented with MEWDS in a 3-month period in central Israel. Data were collected from patients' medical records on clinical, multimodal imaging, and viral serology findings. RESULTS: Six women and one man of mean age 31.5 ± 7.2 years...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28558301/crop-bioaccumulation-and-human-exposure-of-perfluoroalkyl-acids-through-multi-media-transport-from-a-mega-fluorochemical-industrial-park-china
#20
Zhaoyang Liu, Yonglong Lu, Yajuan Shi, Pei Wang, Kevin Jones, Andrew J Sweetman, Andrew C Johnson, Meng Zhang, Yunqiao Zhou, Xiaotian Lu, Chao Su, Suriyanarayanan Sarvajayakesavaluc, Kifayatullah Khan
Significant quantities of perfluoroalkyl acids (PFAAs) are released to the environment from fluorochemical manufacturing processes through wastewater discharge and air emission in China, which may lead to human exposure and health risks through crop bioaccumulation from PFAAs-contaminated soil and irrigation water. This paper systematically studied the distribution and transport of PFAAs in agricultural soil, irrigation water and precipitation, followed by crop bioaccumulation and finally human exposure of PFAAs within a 10km radius around a mega-fluorochemical industrial park (FIP)...
May 27, 2017: Environment International
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