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https://www.readbyqxmd.com/read/28823121/characterization-of-the-porcine-nanog-5-flanking-region
#1
Azra Memon, Ki-Duk Song, Woon Kyu Lee
Objective: Nanog, a homeodomain protein, has been investigated in humans and mice using ESCs. Because of the limited availability of ESCs, few studies have reported the function and role of Nanog in porcine ESCs. Therefore, in this study, we investigated the location of the porcine Nanog chromosome and its basal promoter activity, which might have potential applications in development of ESs specific marker as well as understanding its operating systems in the porcine. Methods: To characterize the porcine Nanog promoter, the 5'-flanking region of Nanog was isolated from cells of mini-pig ears...
August 16, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28823097/epitope-mapping-of-histo-blood-group-antigens-bound-to-norovirus-vlps-using-std-nmr-experiments-reveals-fine-details-of-molecular-recognition
#2
Brigitte Fiege, Mila Leuthold, Francisco Parra, Kevin P Dalton, Peter J Meloncelli, Todd L Lowary, Thomas Peters
Attachment of human noroviruses to histo blood group antigens (HBGAs) is thought to be critical for the infection process. Therefore, we have determined binding epitopes of synthetic type 1 to 6 blood group A- and B-tetrasaccharides binding to GII.4 human Norovirus virus like particles (VLPs) using STD NMR experiments. So far, little information is available from crystal structure analysis studies on the interactions of the reducing-end sugars with the protruding domain (P-domain) of the viral coat protein VP1...
August 19, 2017: Glycoconjugate Journal
https://www.readbyqxmd.com/read/28823057/fusobacterium-nucleatum-as-a-prognostic-marker-of-colorectal-cancer-in-a-japanese-population
#3
Yuko Yamaoka, Yutaka Suehiro, Shinichi Hashimoto, Tomomi Hoshida, Michiyo Fujimoto, Michiya Watanabe, Daiki Imanaga, Kouhei Sakai, Toshihiko Matsumoto, Mitsuaki Nishioka, Taro Takami, Nobuaki Suzuki, Shoichi Hazama, Hiroaki Nagano, Isao Sakaida, Takahiro Yamasaki
BACKGROUND: Accumulating evidence shows an overabundance of Fusobacterium nucleatum in colorectal tumor tissues. However, the correlation between the absolute copy number of F. nucleatum in colorectal cancer tissues and colorectal cancer progression is unclear from previous reports. Therefore, we performed a study to compare the abundance of F. nucleatum in colorectal tissues with clinicopathologic and molecular features of colorectal cancer. METHODS: We collected 100 colorectal cancer tissues and 72 matched normal-appearing mucosal tissues...
August 19, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28823056/exploiting-non-canonical-translation-to-identify-new-targets-for-t-cell-based-cancer-immunotherapy
#4
REVIEW
Céline M Laumont, Claude Perreault
Cryptic MHC I-associated peptides (MAPs) are produced via two mechanisms: translation of protein-coding genes in non-canonical reading frames and translation of allegedly non-coding sequences. In general, cryptic MAPs are coded by relatively short open reading frames whose translation can be regulated at the level of initiation, elongation or termination. In contrast to conventional MAPs, the processing of cryptic MAPs is frequently proteasome independent. The existence of cryptic MAPs derived from allegedly non-coding regions enlarges the scope of CD8 T cell immunosurveillance from a mere ~2% to as much as ~75% of the human genome...
August 19, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28823044/diagnostic-implications-of-tert-promoter-mutation-status-in-diffuse-gliomas-in-a-routine-clinical-setting
#5
Ekkehard Hewer, Nadine Prebil, Sabina Berezowska, Marielena Gutt-Will, Philippe Schucht, Matthias S Dettmer, Erik Vassella
IDH (isocitrate dehydrogenase) gene mutations are present in most diffuse low-grade gliomas and define the clinico-pathological core of the respective morphologically defined entities. Conversely, according to the 2016 WHO classification, the majority of glioblastomas belong to the IDH-wildtype category, which is defined by exclusion. TERT (telomerase reverse transcriptase gene) promoter mutations have been suggested as a molecular marker for primary glioblastomas. We analyzed molecular, histopathological, and clinical profiles of a series of 110 consecutive diffuse gliomas (WHO grades II-IV) diagnosed at our institution, in which TERT promoter mutation analysis had been performed as part of diagnostic work-up...
August 19, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28822984/tbk1-mutations-in-italian-patients-with-amyotrophic-lateral-sclerosis-genetic-and-functional-characterisation
#6
Laura Pozzi, Fabiola Valenza, Lorena Mosca, Andrea Dal Mas, Teuta Domi, Alessandro Romano, Claudia Tarlarini, Yuri Matteo Falzone, Lucio Tremolizzo, Gianni Sorarù, Federica Cerri, Pilar M Ferraro, Silvia Basaia, Federica Agosta, Raffaella Fazio, Mauro Comola, Giancarlo Comi, Maurizio Ferrari, Angelo Quattrini, Christian Lunetta, Silvana Penco, Dario Bonanomi, Paola Carrera, Nilo Riva
BACKGROUND: TANK-binding kinase 1 (TBK1) gene has been recently identified as a causative gene of amyotrophic lateral sclerosis (ALS). METHODS: We sequenced the TBK1 gene in a cohort of 154 Italian patients with ALS with unclear genetic aetiology. We subsequently assessed the pathogenic potential of novel identified TBK1 variants using functional in vitro studies: expression, targeting and activity were evaluated in patient-derived fibroblasts and in cells transfected with mutated-TBK1 plasmids...
August 19, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28822957/two-year-recombinant-human-growth-hormone-rhgh-treatment-is-more-effective-in-pre-pubertal-compared-to-pubertal-short-children-with-x-linked-hypophosphatemic-rickets-xlhr
#7
Anya Rothenbuhler, Laure Esterle, Iva Gueorguieva, Jean-Pierre Salles, Brigitte Mignot, Michel Colle, Agnes Linglart
CONTEXT: Twenty-five to 40% of patients with well-controlled X-linked hypophosphatemic rickets (XLHR) have a final height under -2 SDS. Previous studies have shown that recombinant human growth hormone (rhGH) treatment improves linear growth in short children with XLHR. OBJECTIVE: We studied the effectiveness of rhGH treatment in children with XLHR in a larger cohort. DESIGN: Monocentric, prospective, non-randomized trial. SETTING: University hospital in France...
August 15, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28822954/the-variability-of-hepatitis-b-envelope-is-associated-with-hbs-antigen-persistence-in-either-chronic-or-acute-hbv-genotype-a-infection
#8
Marine Eschlimann, Brice Malvé, Aurélie Velay, Honorine Fenaux, Sibel Berger, Jean-Pol Frippiat, Fabien Zoulim, Mouni Bensenane, Jean-Pierre Bronowicki, François Goehringer, Thierry May, Hélène Jeulin, Evelyne Schvoerer
BACKGROUND: More than 240 million people are chronically infected by hepatitis B virus (HBV) worldwide. Envelope proteins play a crucial role in viral cellular entry and immune recognition. The loss of HBs antigen (HBsAg) correlated with a good clinical prognosis is rarely achieved with or without treatment (3-16%). OBJECTIVES: HBV envelope variability was investigated according to HBsAg persistence. STUDY DESIGN: The cohort consisted of 15 HBV genotype A-infected patients divided into "resolvers", with HBsAg clearance, and "non-resolvers", with HBsAg persistence and in subgroups: acute (n=5, AHBV) or chronic infection (n=4, CHBV) and HBV/HIV coinfection (n=6, CHBV/HIV)...
August 5, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28822864/tailoring-the-wettability-and-mechanical-properties-of-electrospun-poly-l-lactic-acid-poly-glycerol-sebacate-core-shell-membranes-for-biomedical-applications
#9
Yi Yan, Vitor Sencadas, Tiantian Jin, Xufeng Huang, Jun Chen, Dongbin Wei, Zhengyi Jiang
Tissue and biomedical engineering fields are in constant mutation and in searching for innovative processing techniques capable to tailor the material properties. In this work, poly(l-lactic acid) (PLLA) and elastomeric poly(glycerol sebacate) (PGS) were dissolved in the same solvents and electrospun together, in a single needle system. A core-shell structure where the hydrophilic PGS was placed onto the surface of the hydrophobic PLLA fibre was obtained for elastomeric concentrations up to 25wt%. It was found that the PLLA:PGS blends are immiscible and the blends present the melting temperatures of the individual polymers...
August 12, 2017: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/28822832/combined-immunodeficiency-with-ebv-positive-b-cell-lymphoma-and-epidermodysplasia-verruciformis-due-to-a-novel-homozygous-mutation-in-rasgrp1
#10
Craig D Platt, Ari J Fried, Rodrigo Hoyos-Bachiloglu, G Naheed Usmani, Birgitta Schmidt, Jennifer Whangbo, Roberto Chiarle, Janet Chou, Raif S Geha
RASGRP1 is a guanine-nucleotide-exchange factor essential for MAP-kinase mediated signaling in lymphocytes. We report the second case of RASGRP1 deficiency in a patient with a homozygous nonsense mutation in the catalytic domain of the protein. The patient had epidermodysplasia verruciformis, suggesting a clinically important intrinsic T cell function defect. Like the previously described patient, our proband also presented with CD4(+) T cell lymphopenia, impaired T cell proliferation to mitogens and antigens, reduced NK cell function, and EBV-associated lymphoma...
August 16, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28822812/determinants-of-thermostability-in-the-cytochrome-p450-fold
#11
REVIEW
Kurt L Harris, Raine E S Thomson, Silja J Strohmaier, Yosephine Gumulya, Elizabeth M J Gillam
Cytochromes P450 are found throughout the biosphere in a wide range of environments, serving a multitude of physiological functions. The ubiquity of the P450 fold suggests that it has been co-opted by evolution many times, and likely presents a useful compromise between structural stability and conformational flexibility. The diversity of substrates metabolized and reactions catalyzed by P450s makes them attractive starting materials for use as biocatalysts of commercially useful reactions. However, process conditions impose different requirements on enzymes to those in which they have evolved naturally...
August 16, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28822769/somatic-mutation-analysis-in-melanoma-using-targeted-next-generation-sequencing
#12
Allen P Miraflor, Francine B de Abreu, Jason D Peterson, Scott A Turner, Christopher I Amos, Gregory J Tsongalis, Shaofeng Yan
Advanced stage malignant melanoma often responds poorly to therapy with low survival rates. New therapeutic approaches are based upon a growing understanding of the underlying molecular abnormalities. We demonstrate the feasibility of a next generation sequencing (NGS) assay, which targets hotspots in 50 cancer genes, to assess genotypes that may influence therapeutic selection and response. DNA was extracted from formalin fixed paraffin embedded (FFPE) melanoma specimens to create multiplexed libraries which were sequenced...
August 16, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28822683/hsp90-sensitivity-to-adp-reveals-hidden-regulation-mechanisms
#13
Jackson C Halpin, Timothy O Street
The ATPase cycle of the Hsp90 molecular chaperone is essential for maintaining the stability of numerous client proteins. Extensive analysis has focused on ATP-driven conformational changes of Hsp90, however, little is known about how Hsp90 operates under physiological nucleotide conditions in which both ATP and ADP are present. By quantifying Hsp90 activity under mixed nucleotide conditions we find dramatic differences in ADP-sensitivity among Hsp90 homologs. ADP acts as a strong ATPase inhibitor of cytosol-specific Hsp90 homologs, whereas organellular Hsp90 homologs (Grp94 and TRAP1) are relatively insensitive to the presence of ADP...
August 16, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28822487/does-resistance-really-carry-a-fitness-cost
#14
REVIEW
Richard H Ffrench-Constant, Chris Bass
Insecticide resistance mutations are widely assumed to carry fitness costs. However studies to measure such costs are rarely performed on genetically related strains and are often only done in the laboratory. Theory also suggests that once evolved the cost of resistance can be offset by the evolution of fitness modifiers. But for insecticide resistance only one such example is well documented. Here we critically examine the literature on fitness costs in the absence of pesticide and ask if our knowledge of molecular biology has helped us predict the costs associated with different resistance mechanisms...
June 2017: Current Opinion in Insect Science
https://www.readbyqxmd.com/read/28822442/-a-case-of-glutathione-synthetase-deficiency-caused-by-gss-gene-mutations
#15
H J Wang, T T Lu, D X Li
No abstract text is available yet for this article.
August 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28822440/-analysis-of-variants-in-complement-genes-in-han-chinese-children-with-atypical-hemolytic-uremic-syndrome
#16
C L Yi, F Zhao, H Z Qiu, L M Wang, J Huang, X J Nie, Z H Yu
Objective: To investigate the prevalence and characteristics of pathogenic variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome (aHUS). Method: Eleven Han Chinese children with aHUS, including 9 boys and 2 girls aged between 1 year and 4 months and 13 years, were investigated in Department of Pediatrics, Fuzhou General Hospital, from November 1998 to February 2014. Analysis of variants of all the exons of 10 complement genes (CFH, MCP, CFI, C3, CFB, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5), including 25 bases from 3' end and 25 bases from 5' end, was performed in the 11 cases by targeted sequence capture and next generation sequencing...
August 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28822439/-multisystemic-smooth-muscle-dysfunction-syndrome-in-children-a-case-report-and-literature-review
#17
Y L Zhou, Y Y Zhang, B L Cheng, D Xu, L F Tang, Z M Chen
Objective: To analyze the clinical characteristics and diagnosis of multisystemic smooth muscle dysfunction syndrome(MSMDS). Method: Clinical data of a case diagnosed as MSMDS and hospitalized in our hospital in July 2016 was retrospectively analyzed. Literature search was performed at databases of PubMed, Wanfang, China National Knowledge Infrastructure and VIP with the key words "multisystemic smooth muscle dysfunction syndrome" "ACTA2" . The literature retrieval was confined from January 1980 to November 2016...
August 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28822237/beyond-genomics-targeting-the-epigenome-in-diffuse-large-b-cell-lymphoma
#18
REVIEW
Andrea Kühnl, David Cunningham, Ian Chau
After decades of intense research on genetic alterations in cancer and successful implementation of genetically-based targeted therapies, the field of cancer epigenetics is only beginning to be fully recognized. The discovery of frequent mutations in genes modifying the epigenome in diffuse large B-cell lymphoma (DLBCL) has highlighted the outstanding role of epigenetic deregulation in this disease. Identification of epigenetically-driven DLBCL subgroups and development of novel epigenetic drugs have rapidly advanced...
August 9, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/28822114/glycosylation-of-dentin-matrix-protein-1-is-a-novel-key-element-for-astrocyte-maturation-and-bbb-integrity
#19
Bo Jing, Chunxue Zhang, Xianjun Liu, Liqiang Zhou, Jiping Liu, Yinan Yao, Juehua Yu, Yuteng Weng, Min Pan, Jie Liu, Zuolin Wang, Yao Sun, Yi Eve Sun
The blood-brain barrier (BBB) is a tight boundary formed between endothelial cells and astrocytes, which separates and protects brain from most pathogens as well as neural toxins in circulation. However, detailed molecular players involved in formation of BBB are not completely known. Dentin matrix protein 1 (DMP1)-proteoglycan (PG), which is known to be involved in mineralization of bones and dentin, is also expressed in soft tissues including brain with unknown functions. In the present study, we reported that DMP1-PG was expressed in brain astrocytes and enriched in BBB units...
August 18, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28822109/consumer-attitudes-towards-the-establishment-of-a-national-australian-familial-cancer-research-database-by-the-inherited-cancer-connect-iccon-partnership
#20
Laura Forrest, Gillian Mitchell, Letitia Thrupp, Lara Petelin, Kate Richardson, Lyon Mascarenhas, Mary-Anne Young
Clinical genetics units hold large amounts of information which could be utilised to benefit patients and their families. In Australia, a national research database, the Inherited Cancer Connect (ICCon) database, is being established that comprises clinical genetic data held for all carriers of mutations in cancer predisposition genes. Consumer input was sought to establish the acceptability of the inclusion of clinical genetic data into a research database. A qualitative approach using a modified nominal group technique was used to collect data through consumer forums conducted in three Australian states...
August 18, 2017: Journal of Community Genetics
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