Human Disease Ontology 2018 update: classification, content and workflow expansion.

abstract：:Camptothecin (CPT), a plant alkaloid with antitumor activity, is a specific inhibitor of eukaryotic DNA topoisomerase I. We have previously isolated and characterized a CPT-resistant topoisomerase I isolated from a CPT-resistant human leukemia cell line, CPT-K5. cDNA clones of topoisomerase I were isolated from the CP...

journal_title：Nucleic acids research

authors： Tamura H,Kohchi C,Yamada R,Ikeda T,Koiwai O,Patterson E,Keene JD,Okada K,Kjeldsen E,Nishikawa K

更新日期：1991-01-11 00:00:00

abstract：:Mutations in immunoglobulin µ-binding protein 2 (Ighmbp2) cause distal spinal muscular atrophy type 1 (DSMA1), an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress. However, despite extensive studies, the mechanism of disease-causing mutations remains elusive...

journal_title：Nucleic acids research

authors： Lim SC,Bowler MW,Lai TF,Song H

更新日期：2012-11-01 00:00:00

abstract：:Minichromosome maintenance (MCM) proteins facilitate replication by licensing origins and unwinding the DNA double strand. Interestingly, the number of MCM hexamers greatly exceeds the number of firing origins suggesting additional roles of MCMs. Here we show a hitherto unanticipated function of MCM2 in cilia formatio...

journal_title：Nucleic acids research

authors： Casar Tena T,Maerz LD,Szafranski K,Groth M,Blätte TJ,Donow C,Matysik S,Walther P,Jeggo PA,Burkhalter MD,Philipp M

更新日期：2019-01-10 00:00:00

abstract：:High-resolution structures of proteins remain the most valuable source for understanding their function in the cell and provide leads for drug design. Since the availability of sufficient protein structures to tackle complex problems such as modeling backbone moves or docking remains a problem, alternative approaches ...

journal_title：Nucleic acids research

authors： Vanhee P,Verschueren E,Baeten L,Stricher F,Serrano L,Rousseau F,Schymkowitz J

更新日期：2011-01-01 00:00:00

abstract：:The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), provided by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI), has for almost forty years continued in its mission to freely archive and present the world's public sequencing data for the benefit of the entire scie...

journal_title：Nucleic acids research

authors： Harrison PW,Ahamed A,Aslam R,Alako BTF,Burgin J,Buso N,Courtot M,Fan J,Gupta D,Haseeb M,Holt S,Ibrahim T,Ivanov E,Jayathilaka S,Balavenkataraman Kadhirvelu V,Kumar M,Lopez R,Kay S,Leinonen R,Liu X,O'Cathail C,Pa

更新日期：2021-01-08 00:00:00

abstract：:The cDNA encoding the human RNA lariat debranching enzyme (hDBR1) was identified and cloned by searching the Expressed Sequence Tag (EST) database and screening a HeLa cDNA library, based on predicted amino acid sequence homologies with the Saccharomyces cerevisiae, Schizosaccharomyces pombe and Caenorhabditis elegans...

journal_title：Nucleic acids research

authors： Kim JW,Kim HC,Kim GM,Yang JM,Boeke JD,Nam K

更新日期：2000-09-15 00:00:00

abstract：:Translation initiation in eukaryotes is mediated by assembly of the eIF4F complex over the m(7)GTP cap structure at the 5'-end of mRNAs. This requires an interaction between eIF4E and eIF4G, two eIF4F subunits. The Leishmania orthologs of eIF4E are structurally diverged from their higher eukaryote counterparts, since ...

journal_title：Nucleic acids research

authors： Yoffe Y,Léger M,Zinoviev A,Zuberek J,Darzynkiewicz E,Wagner G,Shapira M

更新日期：2009-06-01 00:00:00

abstract：:The viral RNA (vRNA) genome of influenza viruses is replicated by the RNA-dependent RNA polymerase (RNAP) via a complementary RNA (cRNA) intermediate. The vRNA promoter can adopt multiple conformations when bound by the RNAP. However, the dynamics, determinants, and biological role of these conformations are unknown; ...

journal_title：Nucleic acids research

authors： Robb NC,Te Velthuis AJW,Fodor E,Kapanidis AN

更新日期：2019-07-09 00:00:00

abstract：:In vitro splicing of human beta-globin pre-mRNA can be fully inhibited by treatment of the splicing extract with polyclonal antibodies against hnRNP core proteins prior to the addition of pre-mRNA. Inhibition of the first step in the splicing pathway, cleavage at the 5' splice site and lariat formation, requires more ...

journal_title：Nucleic acids research

authors： Sierakowska H,Szer W,Furdon PJ,Kole R

更新日期：1986-07-11 00:00:00

abstract：:Several authors have suggested or inferred that modest changes in microRNA expression can potentiate or impinge on their capacity to mediate gene repression, and that doing so could play a significant role in diseases. Such interpretations are based on several assumptions, namely: (i) changes in microRNA expression co...

journal_title：Nucleic acids research

authors： Mayya VK,Duchaine TF

更新日期：2015-09-03 00:00:00

abstract：:Based on the secondary structural model of MS2 RNA, it is shown that, in base-pairing regions of the RNA, there is a bias in the use of synonymous codons which favours C and/or G over U and/or A in the third codon positions, and that in non-pairing regions, there is an opposite bias which favours U and/or A over C and...

journal_title：Nucleic acids research

authors： Hasegawa M,Yasunaga T,Miyata T

更新日期：1979-12-11 00:00:00

abstract：:The pol gene of all retroviruses is expressed as a gag-pol fusion protein which is proteolytically processed to produce all viral enzymes. In the human immunodeficiency virus (HIV), the gag and pol genes overlap by 241 nucleotides with pol in the -1 phase with respect to gag. The gag-pol fusion is produced via a -1 ri...

journal_title：Nucleic acids research

authors： Vickers TA,Ecker DJ

更新日期：1992-08-11 00:00:00

abstract：:Upstream open reading frame (uORF)-mediated translational inhibition is important in controlling key regulatory genes expression. However, understanding the underlying molecular mechanism of such uORF-mediated control system in vivo is challenging in the absence of an animal model. Therefore, we generated a zebrafish ...

journal_title：Nucleic acids research

authors： Lee HC,Chen YJ,Liu YW,Lin KY,Chen SW,Lin CY,Lu YC,Hsu PC,Lee SC,Tsai HJ

更新日期：2011-11-01 00:00:00

abstract：:Mutations in the gene of human RNase T2 are associated with white matter disease of the human brain. Although brain abnormalities (bilateral temporal lobe cysts and multifocal white matter lesions) and clinical symptoms (psychomotor impairments, spasticity and epilepsy) are well characterized, the pathomechanism of RN...

journal_title：Nucleic acids research

authors： Thorn A,Steinfeld R,Ziegenbein M,Grapp M,Hsiao HH,Urlaub H,Sheldrick GM,Gärtner J,Krätzner R

更新日期：2012-09-01 00:00:00

abstract：:The principal early promoter of human papillomaviruses (HPVs), designated P97 in the case of HPV-16, contains four characteristically aligned cis-responsive elements, namely one binding site for Sp1, two for the viral E2 proteins, and the TATA box. The Sp1 binding site is needed to mediate activation of P97 by the rem...

journal_title：Nucleic acids research

authors： Tan SH,Gloss B,Bernard HU

更新日期：1992-01-25 00:00:00

abstract：:A short histone-like fusion RNA, generated when the RNA 3' processing signal from a mouse histone H4 gene is inserted into a heterologous transcription unit, becomes correctly down-regulated in G1-arrested cells of a temperature-sensitive mouse mastocytoma cell cycle mutant (21-Tb; Stauber et al., EMBO J. 5, 3297-3303...

journal_title：Nucleic acids research

authors： Stauber C,Schümperli D

更新日期：1988-10-25 00:00:00

abstract：:Proteins perform biological functions through cascading interactions with each other by forming protein complexes. As a result, interactions among proteins, called protein-protein interactions (PPIs) are not completely free from selection constraint during evolution. Therefore, the identification and analysis of PPI c...

journal_title：Nucleic acids research

authors： Kwon D,Lee D,Kim J,Lee J,Sim M,Kim J

更新日期：2018-07-02 00:00:00

abstract：:In the field of RNA, the technologies for studying the transcriptome have created a tremendous potential for deciphering the puzzles of the RNA biology. Along with the excitement, the unprecedented volume of RNA related omics data is creating great challenges in bioinformatics analyses. Here, we present the RNA Centri...

journal_title：Nucleic acids research

authors： Uyar B,Yusuf D,Wurmus R,Rajewsky N,Ohler U,Akalin A

更新日期：2017-06-02 00:00:00

abstract：:The rpoH genes encoding homologs of Escherichia coli sigma 32 (heat shock sigma factor) were isolated and sequenced from five gram negative proteobacteria (gamma or alpha subgroup): Enterobacter cloacae (gamma), Serratia marcescens (gamma), Proteus mirabilis (gamma), Agrobacterium tumefaciens (alpha) and Zymomonas mob...

journal_title：Nucleic acids research

authors： Nakahigashi K,Yanagi H,Yura T

更新日期：1995-11-11 00:00:00

abstract：:Hepatocyte Nuclear Factor 4 (HNF-4), a liver-enriched orphan receptor of the nuclear receptor superfamily, is required for the expression of a wide variety of liver-specific genes including apoAI. To explore the possibility that site A of the apoAI gene enhancer might also be the target for HNF-4 without the interfere...

journal_title：Nucleic acids research

authors： Fuernkranz HA,Wang Y,Karathanasis SK,Mak P

更新日期：1994-12-25 00:00:00

abstract：:The Intronerator (http://www.cse.ucsc.edu/ approximately kent/intronerator/ ) is a set of web-based tools for exploring RNA splicing and gene structure in Caenorhabditis elegans. It includes a display of cDNA alignments with the genomic sequence, a catalog of alternatively spliced genes and a database of introns. The ...

journal_title：Nucleic acids research

authors： Kent WJ,Zahler AM

更新日期：2000-01-01 00:00:00

abstract：:The use of the DNA duplex as a supramolecular scaffold is an established approach for the assembly of chromophore aggregates. In the absence of detailed structural insight, the characterization of thus assembled oligochromophores is, today, largely based on solution-phase spectroscopy. Here, we describe the crystal st...

journal_title：Nucleic acids research

authors： Probst M,Aeschimann W,Chau TT,Langenegger SM,Stocker A,Häner R

更新日期：2016-09-06 00:00:00

abstract：:A novel expression system was established that allows expression and propagation of the human hepatitis B virus (HBV) genome in cultured animal cells. An overlength HBV genome encoding the viral pregenomic RNA was put under transcriptional control of the human metallothionein IIA promoter thereby replacing the endogen...

journal_title：Nucleic acids research

authors： Junker M,Galle P,Schaller H

更新日期：1987-12-23 00:00:00

abstract：:Cellular ribonucleic acid (RNA) plays a crucial role in the initial conversion of cellular prion protein PrP(C) to infectious PrP(Sc) or scrapie. The nature of this RNA remains elusive. Previously, RNA aptamers against PrP(C) have been isolated and found to form G-quadruplexes (G4s). PrP(C) binding to G4 RNAs destabil...

journal_title：Nucleic acids research

authors： Olsthoorn RC

更新日期：2014-08-01 00:00:00

abstract：:A crucial step in analyzing mRNA-Seq data is to accurately and efficiently map hundreds of millions of reads to the reference genome and exon junctions. Here we present OLego, an algorithm specifically designed for de novo mapping of spliced mRNA-Seq reads. OLego adopts a multiple-seed-and-extend scheme, and does not ...

journal_title：Nucleic acids research

authors： Wu J,Anczuków O,Krainer AR,Zhang MQ,Zhang C

更新日期：2013-05-01 00:00:00

abstract：:Herpes simplex type 1 virus (HSV-1) and bacteriophage λ capsids undergo considerable structural changes during self-assembly and DNA packaging. The initial steps of viral capsid self-assembly require weak, non-covalent interactions between the capsid subunits to ensure free energy minimization and error-free assembly....

journal_title：Nucleic acids research

authors： Sae-Ueng U,Liu T,Catalano CE,Huffman JB,Homa FL,Evilevitch A

更新日期：2014-08-01 00:00:00

abstract：:TORQUE is a tool for cross-species querying of protein-protein interaction networks. It aims to answer the following question: given a set of proteins constituting a known complex or a pathway in one species, can a similar complex or pathway be found in the protein network of another species? To this end, Torque seeks...

journal_title：Nucleic acids research

authors： Bruckner S,Hüffner F,Karp RM,Shamir R,Sharan R

更新日期：2009-07-01 00:00:00

abstract：:Transcription factor (TF) and microRNA (miRNA) are two crucial trans-regulatory factors that coordinately control gene expression. Understanding the impacts of these two factors on the rate of protein sequence evolution is of great importance in evolutionary biology. While many biological factors associated with evolu...

journal_title：Nucleic acids research

authors： Chen YC,Cheng JH,Tsai ZT,Tsai HK,Chuang TJ

更新日期：2013-07-01 00:00:00

abstract：:The RNA Editing Database (REDIdb) is an interactive, web-based database created and designed with the aim to allocate RNA editing events such as substitutions, insertions and deletions occurring in a wide range of organisms. The database contains both fully and partially sequenced DNA molecules for which editing infor...

journal_title：Nucleic acids research

authors： Picardi E,Regina TM,Brennicke A,Quagliariello C

更新日期：2007-01-01 00:00:00

abstract：:Evidence will be presented to show that the allyl group is suitable for the protection of a 3'-terminal phosphodiester function. The latter will be demonstrated by the synthesis, via a phosphotriester approach, of two cyclic tetraribonucleotides [r(AAAA) and r(UAMe2UAMe2)], two cyclic hexadeoxyribonucleotides [d(CGCGC...

journal_title：Nucleic acids research

authors： de Vroom E,Broxterman HJ,Sliedregt LA,van der Marel GA,van Boom JH

更新日期：1988-05-25 00:00:00