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https://www.readbyqxmd.com/read/28934750/frontotemporal-dementia-caused-by-the-p301l-mutation-in-the-mapt-gene-clinicopathological-features-of-13-cases-from-the-same-geographical-origin-in-barcelona-spain
#1
Sergi Borrego-Écija, Joana Morgado, Leire Palencia-Madrid, Oriol Grau-Rivera, Ramón Reñé, Isabel Hernández, Consuelo Almenar, Mircea Balasa, Anna Antonell, José Luis Molinuevo, Albert Lladó, Marian Martínez de Pancorbo, Ellen Gelpi, Raquel Sánchez-Valle
BACKGROUND/AIMS: We identified and studied 13 patients carrying the P301L mutation in the MAPT gene from the same area (Baix Llobregat County) in Barcelona, Spain. METHODS: The demographic and clinical features were reviewed retrospectively. Detailed neuropathological characterization was obtained in 9 subjects. To investigate the origin of the P301L mutation in these families, 20 single nucleotide polymorphisms (SNPs) in the MAPT gene were analyzed. RESULTS: The mean age at disease onset was 51 years and the mean disease duration was 7 years...
September 22, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28934507/a-comprehensive-cell-specific-microrna-catalogue-of-human-peripheral-blood
#2
Simonas Juzenas, Geetha Venkatesh, Matthias Hübenthal, Marc P Hoeppner, Zhipei Gracie Du, Maren Paulsen, Philip Rosenstiel, Philipp Senger, Martin Hofmann-Apitius, Andreas Keller, Limas Kupcinskas, Andre Franke, Georg Hemmrich-Stanisak
With this study, we provide a comprehensive reference dataset of detailed miRNA expression profiles from seven types of human peripheral blood cells (NK cells, B lymphocytes, cytotoxic T lymphocytes, T helper cells, monocytes, neutrophils and erythrocytes), serum, exosomes and whole blood. The peripheral blood cells from buffy coats were typed and sorted using FACS/MACS. The overall dataset was generated from 450 small RNA libraries using high-throughput sequencing. By employing a comprehensive bioinformatics and statistical analysis, we show that 3' trimming modifications as well as composition of 3' added non-templated nucleotides are distributed in a lineage-specific manner-the closer the hematopoietic progenitors are, the higher their similarities in sequence variation of the 3' end...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934501/model-based-design-of-rna-hybridization-networks-implemented-in-living-cells
#3
Guillermo Rodrigo, Satya Prakash, Shensi Shen, Eszter Majer, José-Antonio Daròs, Alfonso Jaramillo
Synthetic gene circuits allow the behavior of living cells to be reprogrammed, and non-coding small RNAs (sRNAs) are increasingly being used as programmable regulators of gene expression. However, sRNAs (natural or synthetic) are generally used to regulate single target genes, while complex dynamic behaviors would require networks of sRNAs regulating each other. Here, we report a strategy for implementing such networks that exploits hybridization reactions carried out exclusively by multifaceted sRNAs that are both targets of and triggers for other sRNAs...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934497/systematic-analysis-of-dna-crosslink-repair-pathways-during-development-and-aging-in-caenorhabditis-elegans
#4
David M Wilson, Matthias Rieckher, Ashley B Williams, Björn Schumacher
DNA interstrand crosslinks (ICLs) are generated by endogenous sources and chemotherapeutics, and pose a threat to genome stability and cell survival. Using Caenorhabditis elegans mutants, we identify DNA repair factors that protect against the genotoxicity of ICLs generated by trioxsalen/ultraviolet A (TMP/UVA) during development and aging. Mutations in nucleotide excision repair (NER) components (e.g. XPA-1 and XPF-1) imparted extreme sensitivity to TMP/UVA relative to wild-type animals, manifested as developmental arrest, defects in adult tissue morphology and functionality, and shortened lifespan...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934477/a-structural-map-of-oncomir-1-at-single-nucleotide-resolution
#5
Saikat Chakraborty, Yamuna Krishnan
The miR-17-92a cluster, also known as 'oncomiR-1', is an RNA transcript that plays a pivotal regulatory role in cellular processes, including the cell cycle, proliferation and apoptosis. Its dysregulation underlies the development of several cancers. Oncomir-1 comprises six constituent miRNAs, each processed with different efficiencies as a function of both developmental time and tissue type. The structural mechanisms that regulate such differential processing are unknown, and this has impeded our understanding of the dysregulation of oncomiR-1 in pathophysiology...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934467/the-important-conformational-plasticity-of-dsra-srna-for-adapting-multiple-target-regulation
#6
Pengzhi Wu, Xiaodan Liu, Lingna Yang, Yitong Sun, Qingguo Gong, Jihui Wu, Yunyu Shi
In bacteria, small non-coding RNAs (sRNAs) could function in gene regulations under variable stress responses. DsrA is an ∼90-nucleotide Hfq-dependent sRNA found in Escherichia coli. It regulates the translation and degradation of multiple mRNAs, such as rpoS, hns, mreB and rbsD mRNAs. However, its functional structure and particularly how it regulates multiple mRNAs remain obscure. Using NMR, we investigated the solution structures of the full-length and isolated stem-loops of DsrA. We first solved the NMR structure of the first stem-loop (SL1), and further studied the melting process of the SL1 induced by the base-pairing with the rpoS mRNA and the A-form duplex formation of the DsrA/rpoS complex...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934436/insights-into-onchocerca-volvulus-population-biology-through-multilocus-immunophenotyping
#7
Carmelle T Norice-Tra, José Ribeiro, Sasisekhar Bennuru, Michael P Fay, Rahul Tyagi, Makedonka Mitreva, Thomas B Nutman
We have developed a serologically based immunophenotyping approach to study Onchocerca volvulus (Ov) population diversity. Using genomic sequence data and polymerase chain reaction-based genotyping, we identified nonsynonymous single-nucleotide polymorphisms (SNPs) in the genes of 16 major immunogenic Ov proteins: Ov-CHI-1/Ov-CHI-2, Ov16, Ov-FAR-1, Ov-CPI-1, Ov-B20, Ov-ASP-1, Ov-TMY-1, OvSOD1, OvGST1, Ov-CAL-1, M3/M4, Ov-RAL-1, Ov-RAL-2, Ov-ALT-1, Ov-FBA-1, and Ov-B8. We assessed the immunoreactivity of onchocerciasis patient sera (n = 152) from the Americas, West Africa, Central Africa, and East Africa against peptides derived from 10 of these proteins containing SNPs...
September 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28934397/a-modifier-of-huntington-s-disease-onset-at-the-mlh1-locus
#8
Jong-Min Lee, Michael J Chao, Denise Harold, Kawther Abu Elneel, Tammy Gillis, Peter Holmans, Lesley Jones, Michael Orth, Richard H Myers, Seung Kwak, Vanessa C Wheeler, Marcy E MacDonald, James F Gusella
Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by an expanded CAG repeat in HTT. Many clinical characteristics of HD such as age at motor onset are determined largely by the size of HTT CAG repeat. However, emerging evidence strongly supports a role for other genetic factors in modifying the disease pathogenesis driven by mutant huntingtin. A recent genome-wide association analysis to discover genetic modifiers of HD onset age provided initial evidence for modifier loci on chromosomes 8 and 15 and suggestive evidence for a locus on chromosome 3...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934297/molecular-and-biological-characterization-of-%C3%AF-rs551-a-filamentous-bacteriophage-isolated-from-a-race-3-biovar-2-strain-of-ralstonia-solanacearum
#9
Abdelmonim Ali Ahmad, Michael J Stulberg, John Patrick Mershon, Dimitre S Mollov, Qi Huang
A filamentous bacteriophage, designated ϕRs551, was isolated and purified from the quarantine and select agent phytopathogen Ralstonia solanacearum race 3 biovar 2 strain UW551 (phylotype IIB sequevar 1) grown under normal culture conditions. Electron microscopy suggested that ϕRs551 is a member of the family Inoviridae, and is about 1200 nm long and 7 nm wide. ϕRs551 has a genome of 7929 nucleotides containing 14 open reading frames, and is the first isolated virion that contains a resolvase (ORF13) and putative type-2 phage repressor (ORF14)...
2017: PloS One
https://www.readbyqxmd.com/read/28934292/hawaiian-skirt-controls-size-and-floral-organ-number-by-modulating-cuc1-and-cuc2-expression
#10
Zinnia H González-Carranza, Xuebin Zhang, Janny L Peters, Veronique Boltz, Judit Szecsi, Mohammed Bendahmane, Jeremy A Roberts
The Arabidopsis thaliana F-box gene HAWAIIAN SKIRT (HWS) affects organ growth and the timing of floral organ abscission. The loss-of-function hws-1 mutant exhibits fused sepals and increased organ size. To understand the molecular mechanisms of HWS during plant development, we mutagenized hws-1 seeds with ethylmethylsulphonate (EMS) and screened for mutations suppressing hws-1 associated phenotypes. We isolated the shs1/hws-1 (suppressor of hws-1) mutant in which hws-1 sepal fusion phenotype was suppressed...
2017: PloS One
https://www.readbyqxmd.com/read/28934256/transcriptome-analysis-of-sex-related-genes-in-the-blood-clam-tegillarca-granosa
#11
Heng Chen, Guoqiang Xiao, Xueliang Chai, Xingguan Lin, Jun Fang, Shuangshuang Teng
BACKGROUND: Blood clams (Tegillarca granosa) are one of the most commercial shellfish in China and South Asia with wide distribution in Indo-Pacific tropical to temperate estuaries. However, recent data indicate a decline in the germplasm of this species. Furthermore, the molecular mechanisms underpinning reproductive regulation remain unclear and information regarding genetic diversity is limited. Understanding the reproductive biology of shellfish is important in interpreting their embryology development, reproduction and population structure...
2017: PloS One
https://www.readbyqxmd.com/read/28934115/development-of-genome-wide-ssr-markers-from-angelica-gigas-nakai-using-next-generation-sequencing
#12
Jinsu Gil, Yurry Um, Serim Kim, Ok Tae Kim, Sung Cheol Koo, Chinreddy Subramanyam Reddy, Seong-Cheol Kim, Chang Pyo Hong, Sin-Gi Park, Ho Bang Kim, Dong Hoon Lee, Byung-Hoon Jeong, Jong-Wook Chung, Yi Lee
Angelica gigas Nakai is an important medicinal herb, widely utilized in Asian countries especially in Korea, Japan, and China. Although it is a vital medicinal herb, the lack of sequencing data and efficient molecular markers has limited the application of a genetic approach for horticultural improvements. Simple sequence repeats (SSRs) are universally accepted molecular markers for population structure study. In this study, we found over 130,000 SSRs, ranging from di- to deca-nucleotide motifs, using the genome sequence of Manchu variety (MV) of A...
September 21, 2017: Genes
https://www.readbyqxmd.com/read/28933851/design-and-structure-guided-development-of-novel-inhibitors-of-the-xeroderma-pigmentosum-group-a-xpa-protein-dna-interaction
#13
Navnath S Gavande, Pamela VanderVere-Carozza, Akaash K Mishra, Tyler L Vernon, Katherine S Pawelczak, John J Turchi
XPA is a unique and essential protein required for the nucleotide excision DNA repair pathway and represents a therapeutic target in oncology. Herein, we are the first to develop novel inhibitors of the XPA-DNA interaction through structure-guided drug design efforts. Ester derivatives of the compounds 1 (X80), 22, and 24 displayed excellent inhibitory activity (IC50 of 0.82 ± 0.18 μM and 1.3 ± 0.22 μM, respectively) but poor solubility. We have synthesized novel amide derivatives that retain potency and have much improved solubility...
September 21, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28933793/contribution-of-gold-nanoparticles-to-the-catalytic-dna-strand-displacement-in-leakage-reduction-and-signal-amplification
#14
Bei Wang, Xiang Zhou, Dongbao Yao, Xianbao Sun, Miao He, Xiaojing Wang, Xue Yin, Haojun Liang
A new model using a gold nanoparticle (AuNP)-DNA system to constrain leakage and improve efficiency of catalytic toehold-mediated strand displacement reactions was outlined. A 10-bp spacer on AuNPs and fourfold amount of fuels were determined for good performance of this model with an optimized toehold strategy. After the reaction at 25 °C for 10 h, a 258 pM target could be identified, which is a remarkable improvement compared with the traditional AuNP-DNA system without fuel. Moreover, this model was also studied to differentiate specific single nucleotide polymorphism on target with superior selection factors...
September 21, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28933692/a-quantitative-hypermorphic-cngc-allele-confers-ectopic-calcium-flux-and-impairs-cellular-development
#15
David M Chiasson, Kristina Haage, Katharina Sollweck, Andreas Brachmann, Petra Dietrich, Martin Parniske
The coordinated control of Ca(2+) signaling is essential for development in eukaryotes. Cyclic nucleotide-gated channel (CNGC) family members mediate Ca(2+) influx from cellular stores in plants(1-4). Here we report the unusual genetic behavior of a quantitative gain-of-function CNGC mutation (brush) in Lotus japonicus resulting in a leaky tetrameric channel. brush resides in a cluster of redundant CNGCs encoding subunits which resemble metazoan voltage-gated potassium (Kv1-Kv4) channels in assembly and gating properties...
September 21, 2017: ELife
https://www.readbyqxmd.com/read/28933656/induction-of-rnai-responses-by-short-left-handed-hairpin-rnai-triggers
#16
Jonathan C Hagopian, Alexander S Hamil, Arjen van den Berg, Bryan R Meade, Akiko Eguchi, Caroline Palm-Apergi, Steven F Dowdy
Small double-stranded, left-handed hairpin (LHP) RNAs containing a 5'-guide-loop-passenger-3' structure induce RNAi responses by a poorly understood mechanism. To explore LHPs, we synthesized fully 2'-modified LHP RNAs targeting multiple genes and found all to induce robust RNAi responses. Deletion of the loop and nucleotides at the 5'-end of the equivalent passenger strand resulted in a smaller LHP that still induced strong RNAi responses. Surprisingly, progressive deletion of up to 10 nucleotides from the 3'-end of the guide strand resulted in a 32mer LHP capable of inducing robust RNAi responses...
September 21, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28933650/investigating-multiple-sclerosis-genetic-susceptibility-on-the-founder-population-of-east-central-sardinia-via-association-and-linkage-analysis-of-immune-related-loci
#17
Teresa Fazia, Roberta Pastorino, Luisa Foco, Lide Han, Mark Abney, Ashley Beecham, Athena Hadjixenofontos, Hui Guo, Davide Gentilini, Charalampos Papachristou, Pier Paolo Bitti, Anna Ticca, Carlo Berzuini, Jacob L McCauley, Luisa Bernardinelli
BACKGROUND: A wealth of single-nucleotide polymorphisms (SNPs) responsible for multiple sclerosis (MS) susceptibility have been identified; however, they explain only a fraction of MS heritability. OBJECTIVES: We contributed to discovery of new MS susceptibility SNPs by studying a founder population with high MS prevalence. METHODS: We analyzed ImmunoChip data from 15 multiplex families and 94 unrelated controls from the Nuoro Province, Sardinia, Italy...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28933320/neisseria-dumasiana-sp-nov-from-human-sputum-and-a-dog-s-mouth
#18
Danielle Wroblewski, Jocelyn Cole, Jana McGinnis, Maria Perez, Harriet Wilson, Lisa A Mingle, Kimberlee A Musser, William J Wolfgang
Three independent isolates of Gram-reaction-negative cocci collected from two New York State patients and a dog's mouth in California were subjected to a polyphasic analysis. The 16S rRNA gene sequence similarity among these isolates is 99.66 to 99.86 %. The closest species with a validly published name is Neisseria zoodegmatis (98.7 % 16S rRNA gene sequence similarity) with six additional species of the genus Neisseria with greater than 97 % similarity. Average nucleotide identity (ANI) and genome-to-genome distance calculator (GGDC 2...
September 21, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28933317/elstera-cyanobacteriorum-sp-nov-a-novel-bacterium-isolated-from-cyanobacterial-aggregates-in-a-eutrophic-lake
#19
Haiyuan Cai, Yonghui Zeng, Yanan Wang, Helong Jiang
A bacterial strain, TH019T, was isolated from cyanobacterial aggregates in a eutrophic lake, Taihu Lake, China. Cells were observed to be slightly curved rod-shaped and stained Gram-negative. Optimal growth was obtained at pH 7.0 (range, 5.0-9.0) and 28 °C (range, 20-37 °C) in R2A broth. The cells were found to be positive for oxidase and catalase activities, nitrate reduction and denitrification. The major respiratory quinone was ubiquinone Q-10. The major fatty acids were identified as C18 : 1 ω6c/C18 : 1 ω7c and C18 : 1 2OH...
September 21, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28933050/toll-like-receptor-4-signaling-mediates-inflammation-and-tissue-injury-in-diabetic-nephropathy
#20
REVIEW
Giacomo Garibotto, Annalisa Carta, Daniela Picciotto, Francesca Viazzi, Daniela Verzola
Toll-like receptors (TLRs) are a class of receptors of the innate immune system which detect pathogen-associated and danger-associated molecular patterns in order to initiate an inflammatory response. TLR2 and TLR4 downward signaling causes the production of proinflammatory cytokines that can induce insulin resistance and cardiovascular damage in obesity and type 2 diabetes mellitus. In diabetic nephropathy, TLR4, nucleotide-binding oligomerization domain-containing protein 2 (NOD2), and NLRP3 inflammasome are involved in the production and persistence of inflammation...
September 20, 2017: Journal of Nephrology
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