Abstract:
:The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAH locus. Ascertainment of probands occurs largely through newborn screening for hyperphenylalaninemia. A relational database records allelic variation (disease-producing and polymorphic) at the locus. Information is distributed by Newsletter, diskette (WINPAHDB software stand-alone executable on IBM compatible hardware), and at a 'real' site on the Worldwide Web (http://www.mcgill.ca/pahdb). The database presently records (Sept. 27, 1995) 248 alleles in 798 different associations (with polymorphic haplotype, geographic region and population) along with additional information. The database, as a record of human genetic diversity, at a particular locus, contributes to the study of human evolution and demic expansion; it also has medical relevance.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Hoang L,Byck S,Prevost L,Scriver CRdoi
10.1093/nar/24.1.127subject
Has Abstractpub_date
1996-01-01 00:00:00pages
127-31issue
1eissn
0305-1048issn
1362-4962pii
5s1004journal_volume
24pub_type
杂志文章abstract::Complex carbohydrates are known as mediators of complex cellular events. Concerning their structural diversity, their potential of information content is several orders of magnitude higher in a short sequence than any other biological macromolecule. SWEET-DB (http://www.dkfz.de/spec2/sweetdb/) is an attempt to use mod...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/30.1.405
更新日期:2002-01-01 00:00:00
abstract::ADGO 2.0 is a web-based tool that provides composite interpretations for microarray data comparing two sample groups as well as lists of genes from diverse sources of biological information. Some other tools also incorporate composite annotations solely for interpreting lists of genes but usually provide highly redund...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkr392
更新日期:2011-07-01 00:00:00
abstract::The budding yeast Saccharomyces cerevisiae is proving to be an useful and accurate model for eukaryotic DNA replication. It contains both DNA polymerase alpha (I) and delta (III). Recently, proliferating cell nuclear antigen (PCNA), which in mammalian cells is an auxiliary subunit of DNA polymerase delta and is essent...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/18.2.261
更新日期:1990-01-25 00:00:00
abstract::DAP-like kinase (Dlk, also termed ZIP kinase) is a leucine zipper-containing serine/threonine-specific protein kinase with as yet unknown biological function(s). Interaction partners so far identified are either transcription factors or proteins that can support or counteract apoptosis. Thus, Dlk might be involved in ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/30.6.1408
更新日期:2002-03-15 00:00:00
abstract::The sequence GCGCGCGCGC contains three overlapping, mutually exclusive, BssHII restriction sites, each corresponding to one of the three different reading frames. When inserted into a plasmid and digested with BssHII, the three sites in this sequence are cleaved at an approximate ratio of 2:1:2. Consequently, this sys...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/17.8.3107
更新日期:1989-04-25 00:00:00
abstract::Influenza A virus (IAV) genomes are composed of eight single-stranded RNA segments that are coated by viral nucleoprotein (NP) molecules. Classically, the interaction between NP and viral RNA (vRNA) is depicted as a uniform pattern of 'beads on a string'. Using high-throughput sequencing of RNA isolated by crosslinkin...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkx584
更新日期:2017-09-06 00:00:00
abstract::A segment of 1160 nucleotides of the FMDV genome has been sequenced using three overlapping fragments of cloned cDNA from FMDV strain O1K. This sequence contains the coding sequence for the viral capsid protein VP1 as shown by its homology to known and newly determined amino acid sequences from this man antigenic poly...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/9.8.1919
更新日期:1981-04-24 00:00:00
abstract::Computer programs, implemented on an Univac II00/80 computer system, for the identification and characterization of protein coding genes and for the analysis of nucleic acid sequences, are described. ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/12.1part1.281
更新日期:1984-01-11 00:00:00
abstract::Yeast tRNA Val 1 alkylation with 2', 3'-O-4-(N-2-chloroethyl-N-methylamino) benzylidene d(pC-G)-A proceeds at 20 degrees - 30 degrees C in the complementary complexes which are formed by d(pC-G)-A greater than RC1 binding to 3 sequences of tRNA Val 1 : psi-C-G58 in the T loop, C-G40 at the 3'-side of the anticodon loo...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/4.5.1609
更新日期:1977-01-01 00:00:00
abstract::The solution structure of the complex between 4', 6-diamidino-2-phenylindole (DAPI) and DNA oligomer [d(GCGATTCGC)]2, containing a central T.T mismatch, has been characterized by combined use of proton one- and two-dimensional NMR spectroscopy, molecular mechanics and molecular dynamics computations including relaxati...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/26.20.4706
更新日期:1998-10-15 00:00:00
abstract::The variation of the proton chemical shifts due to the formation intermolecular hydrogen bonds is computed for a number of complexes which can be formed between the bases of the nucleic acids. The shifts expected for the isolated base pairs, in particular for the G-N1 H, T(or U)-N3H protons and the protons of the amin...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/4.1.99
更新日期:1977-01-01 00:00:00
abstract::Interferons (IFN) play a pivotal role in innate immunity, orchestrating a cell-intrinsic anti-pathogenic state and stimulating adaptive immune responses. The complex interplay between the primary response to IFNs and its modulation by positive and negative feedback loops is incompletely understood. Here, we implement ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkt589
更新日期:2013-09-01 00:00:00
abstract::Cell differentiation is a central process in development and in cancer growth and dissemination. OCT4 (POU5F1) and NANOG are essential for cell stemness and pluripotency; yet, the mechanisms that regulate their expression remain largely unknown. Repetitive elements account for almost half of the Human Genome; still, t...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkw095
更新日期:2016-06-02 00:00:00
abstract::The PRISM web server enables fast and accurate prediction of protein-protein interactions (PPIs). The prediction algorithm is knowledge-based. It combines structural similarity and accounts for evolutionary conservation in the template interfaces. The predicted models are stored in its repository. Given two protein st...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gku397
更新日期:2014-07-01 00:00:00
abstract::A role for BRCA1 in the direct and indirect regulation of transcription is well established. However, a comprehensive view of the degree to which BRCA1 impacts transcriptional regulation on a genome-wide level has not been defined. We performed genome-wide expression profiling and ChIP-chip analysis, comparison of whi...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkr679
更新日期:2011-12-01 00:00:00
abstract::The EcoRV DNA-(adenine-N(6))-methyltransferase (M.EcoRV) specifically modifies the first adenine residue within GATATC sequences. During catalysis, the enzyme flips its target base out of the DNA helix and binds it into a target base binding pocket which is formed in part by Lys16 and Tyr196. A cytosine residue is acc...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/29.15.3137
更新日期:2001-08-01 00:00:00
abstract::M13 RF IV DNA may be prepared in vitro to contain phosphorothioate-modified internucleotidic linkages in the (-)strand only. Certain restriction enzymes react with this modified DNA to hydrolyze the (+)strand exclusively when a phosphorothioate linkage occurs at the normal cleavage point in the (-)strand. The reaction...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/13.24.8765
更新日期:1985-12-20 00:00:00
abstract::The mRNA export complex TREX (TREX) is known to contain Aly, UAP56, Tex1 and the THO complex, among which UAP56 is required for TREX assembly. Here, we systematically investigated the role of each human TREX component in TREX assembly and its association with the mRNA. We found that Tex1 is essentially a subunit of th...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gks1188
更新日期:2013-01-01 00:00:00
abstract::Posttranslational modifications (PTMs) of histones represent a crucial regulatory mechanism of nucleosome and chromatin dynamics in various of DNA-based cellular processes, such as replication, transcription and DNA damage repair. Lysine succinylation (Ksucc) is a newly identified histone PTM, but its regulation and f...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkaa663
更新日期:2020-09-25 00:00:00
abstract::The frequency occurrences of K-tuple (overlapping sequences of defined length, K) were computed from the known human genome sequences. The significance of these frequencies for the whole human genome was tested by polymerase chain reaction (PCR). A computer programs based on these results was written to choose primers...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/19.14.3887
更新日期:1991-07-25 00:00:00
abstract::The RDM1 gene encodes a RNA recognition motif (RRM)-containing protein involved in the cellular response to the anti-cancer drug cisplatin in vertebrates. We previously reported a cDNA encoding the full-length human RDM1 protein. Here, we describe the identification of 11 human cDNAs encoding RDM1 protein isoforms. Th...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkm753
更新日期:2007-01-01 00:00:00
abstract::The Genomes On Line Database (GOLD) is a web resource for comprehensive access to information regarding complete and ongoing genome sequencing projects worldwide. The database currently incorporates information on over 1500 sequencing projects, of which 294 have been completed and the data deposited in the public data...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkj145
更新日期:2006-01-01 00:00:00
abstract::High density oligonucleotide array technology is widely used in many areas of biomedical research for quantitative and highly parallel measurements of gene expression. Affymetrix GeneChip arrays are the most popular. In this technology each gene is typically represented by a set of 11-20 pairs of probes. In order to o...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gng015
更新日期:2003-02-15 00:00:00
abstract::Predicting molecular interactions is a major goal in rational drug design. Pharmacophore, which is the spatial arrangement of features that is essential for a molecule to interact with a specific target receptor, is an important model for achieving this goal. We present a freely available web server, named PharmaGist,...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkn187
更新日期:2008-07-01 00:00:00
abstract::Interleukin 2 (IL2) mRNA has a short half-life in the cytoplasm of T lymphocytes, relative to most mRNA. We have discovered a candidate ribonuclease to account for the rapid turnover of IL2 mRNA in the cytosol of the human T lymphocyte cell line Jurkat. In partially purified form, this RNase is about 7 times as active...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/21.1.155
更新日期:1993-01-11 00:00:00
abstract::PUF proteins, named for Drosophila Pumilio (PUM) and Caenorhabditis elegans fem-3-binding factor (FBF), recognize specific sequences in the mRNAs they bind and control. RNA binding by classical PUF proteins is mediated by a characteristic PUM homology domain (PUM-HD). The Puf1 and Puf2 proteins possess a distinct arch...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkz583
更新日期:2019-09-19 00:00:00
abstract::A very mild and efficient procedure has been developed for the preparation of C-5 substituted deoxyuridines. The substituent carries a masked primary aliphatic amino group. These compounds are readily converted into their phosphoramidites and can be used to prepare oligonucleotides carrying one or more aliphatic amino...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/15.12.4857
更新日期:1987-06-25 00:00:00
abstract::Upon growth transition of Escherichia coli cells from exponential to stationary phase, RNA polymerase is converted into at least three different forms (S1, S2 and S3), which could be separately isolated by phosphocellulose column chromatography (Ozaki et al., 1991 (2)). Here, the promoter selectivity of these three st...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/20.2.257
更新日期:1992-01-25 00:00:00
abstract::Programmed chromosome breakage occurs at 50-200 specific sites in the genome of Tetrahymena thermo-phila during somatic nuclear (macronuclear) differentiation. Previous studies have identified a 15 bp sequence, the Cbs (for chromosome breakage sequence), that is necessary and sufficient to specify these sites. In this...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/28.4.895
更新日期:2000-02-15 00:00:00
abstract::Many, if not all, mRNAs in T.brucei start with the same sequence of 35 nucleotides, separately encoded in clustered so-called mini-exon repeats. From these mini-exon repeats a 141-nt precursor RNA with the 35-nt sequence at its 5' end is transcribed. Indirect evidence suggests that this RNA is linked in a second step ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/12.24.9457
更新日期:1984-12-21 00:00:00