Abstract：
:X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also some polymorphisms and site-directed mutations. Each patient is given a unique patient identity number (PIN). Information is provided regarding the phenotype including symptoms. Mutations in all the five domains of BTK have been noticed to cause the disease, the most common event being missense mutations. The mutations appear almost uniformly throughout the molecule and frequently affect CpG sites forming arginine residues. These hot spots have generally pyrimidines 5'and purines 3'to the mutated cytosine. A decreased frequency of missense mutations was found in the TH, SH3 and the upper lobe of the kinase domain. The putative structural implications of all the missense mutations are given in the database showing 228 unique molecular events, including a novel missense mutation causing an R28C substitution as previously seen in the Xid mouse.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Vihinen M,Belohradsky BH,Haire RN,Holinski-Feder E,Kwan SP,Lappalainen I,Lehväslaiho H,Lester T,Meindl A,Ochs HD,Ollila J,Vorechovsky I,Weiss M,Smith CIdoi
10.1093/nar/25.1.166subject
Has Abstractpub_date
1997-01-01 00:00:00pages
166-71issue
1eissn
0305-1048issn
1362-4962pii
gka035journal_volume
25pub_type
杂志文章,多中心研究abstract：:The sigma(54) factor associates with core RNA polymerase (RNAP) to form a holoenzyme that is unable to initiate transcription unless acted on by an activator protein. sigma(54) is closely involved in many steps of activator-dependent transcription, such as core RNAP binding, promoter recognition, activator interaction...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkp419
更新日期：2009-07-01 00:00:00
abstract：:The increasing availability of multi-omic platforms poses new challenges to data analysis. Joint visualization of multi-omics data is instrumental in better understanding interconnections across molecular layers and in fully utilizing the multi-omic resources available to make biological discoveries. We present here P...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gky466
更新日期：2018-07-02 00:00:00
abstract：:The newest genomic advances have uncovered an unprecedented degree of structural variation throughout genomes, with great amounts of data accumulating rapidly. Here we introduce InvFEST (http://invfestdb.uab.cat), a database combining multiple sources of information to generate a complete catalogue of non-redundant hu...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkt1122
更新日期：2014-01-01 00:00:00
abstract：:Yeast uses nucleotide excision repair (NER) and photolyase (photoreactivation) to repair cyclobutane pyrimidine dimers (CPDs) generated by ultraviolet light. In active genes, NER preferentially repairs the transcribed strand (TS). In contrast, we recently showed that photolyase preferentially repairs the non-transcrib...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/25.19.3795
更新日期：1997-10-01 00:00:00
abstract：:By in vivo DMS footprint and reporter gene analyses we identified two transcription factor binding sites in the human c-sis/PDGF B gene promoter. The low basal activity of the PDGF B promoter in HeLa and undifferentiated K562 cells, which express low PDGF B mRNA levels, and in PC3 cells, which express a high PDGF B mR...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/23.7.1119
更新日期：1995-04-11 00:00:00
abstract：:We have used DNase I footprinting to examine the association kinetics of GA-, GT- and CT-containing oligonucleotides with the target sequence (GGA)5GG. (CCT)5CC. These reactions are slow yielding bimolecular association rate constants between 50 and 2000 M-1s-1. We find that GT-containing oligonucleotides bind much fa...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/25.16.3269
更新日期：1997-08-15 00:00:00
abstract：:Therapeutic small interfering RNAs (siRNAs) are composed of chemically modified nucleotides, which enhance RNA stability and increase affinity in Watson-Crick base pairing. However, the precise fate of such modified nucleotides once the siRNA is degraded within the cell is unknown. Previously, we demonstrated that deo...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkt120
更新日期：2013-04-01 00:00:00
abstract：:Microsatellites are widely used as genetic markers because they are co-dominant, multiallelic, easily scored and highly polymorphic. A major drawback of microsatellite markers is the time and cost required to characterise them. We have developed a novel technique to reduce this cost by producing a microsatellite-rich ...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/24.21.4369
更新日期：1996-11-01 00:00:00
abstract：:A screening for human proteins capable of interacting with influenza virus NS1 has been carried out using the two-hybrid genetic trap in yeast. A cDNA corresponding to the human homologue of Drosophila melanogaster Staufen protein (hStaufen) was isolated that fulfilled all genetic controls of the two-hybrid protocol. ...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/27.11.2241
更新日期：1999-06-01 00:00:00
abstract：:Previously, we have shown that all class-1 polypeptide release factors (RFs) share a common glycine-glycine-glutamine (GGQ) motif, which is critical for RF activity. Here, we subjected to site-directed mutagenesis two invariant amino acids, Gln185 and Arg189, situated in the GGQ minidomain of human eRF1, followed by d...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/29.19.3982
更新日期：2001-10-01 00:00:00
abstract：:Full-length cDNA of the 6.3 kb turnip yellow mosaic virus (TYMV) genome was placed between a T7 promoter and a unique Hind III site. In vitro transcription of Hind III-linearized DNA of clone pTYMC yielded full-length RNA transcripts. In inoculations of Chinese cabbage protoplasts and plants, capped transcripts and vi...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/17.12.4675
更新日期：1989-06-26 00:00:00
abstract：:The coiled-coil coactivator (CoCoA) is a transcriptional coactivator for nuclear receptors and enhances nuclear receptor function by the interaction with the bHLH-PAS domain (AD3) of p160 coactivators. The C-terminal activation domain (AD) of CoCoA possesses strong transactivation activity and is required for the coac...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkl361
更新日期：2006-05-22 00:00:00
abstract：:Tight cell-cycle regulation of the histone H4-K20 methyltransferase PR-Set7 is essential for the maintenance of genome integrity. In mammals, this mainly involves the interaction of PR-Set7 with the replication factor PCNA, which triggers the degradation of the enzyme by the CRL4CDT2 E3 ubiquitin ligase. PR-Set7 is al...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gky034
更新日期：2018-04-06 00:00:00
abstract：:To study the effect of intron size on splicing efficiency we have varied the size of the avian leukosis virus (ALV) env mRNA intron in a cloned ALV genome. This was accomplished by deletion of ALV sequences or insertion of phage lambda DNA. The effect of these modifications on splicing was analyzed by microinjection o...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/10.19.6177
更新日期：1982-10-11 00:00:00
abstract：:The secondary structures of the 5'-untranslated region (5'-UTR) of five different tymoviruses have been determined by structure probing, computer prediction and sequence comparison. Despite large sequence differences, there are remarkable similarities in the secondary structure. In all viruses two or four hairpins are...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/24.24.4910
更新日期：1996-12-15 00:00:00
abstract：:CRISPR/Cas9 is a powerful genome editing system but uncontrolled Cas9 nuclease expression triggers off-target effects and even in vivo immune responses. Inspired by synthetic biology, here we built a synthetic switch that self-regulates Cas9 expression not only in the transcription step by guide RNA-aided self-cleavag...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gky1165
更新日期：2019-02-20 00:00:00
abstract：:Abasic sites (AP-sites) are frequent DNA lesions, arising by spontaneous base hydrolysis or as intermediates of base excision repair (BER). The hemiacetal at the anomeric centre renders them chemically reactive, which presents a challenge to biochemical and structural investigation. Chemically more stable AP-site anal...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkv1520
更新日期：2016-03-18 00:00:00
abstract：:Sequencing of RNAs (RNA-Seq) has revolutionized the field of transcriptomics, but the reads obtained often contain errors. Read error correction can have a large impact on our ability to accurately assemble transcripts. This is especially true for de novo transcriptome analysis, where a reference genome is not availab...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkt215
更新日期：2013-05-01 00:00:00
abstract：:The TcSNP database (http://snps.tcruzi.org) integrates information on genetic variation (polymorphisms and mutations) for different stocks, strains and isolates of Trypanosoma cruzi, the causative agent of Chagas disease. The database incorporates sequences (genes from the T. cruzi reference genome, mRNAs, ESTs and ge...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkn874
更新日期：2009-01-01 00:00:00
abstract：:An endo-exonuclease has been purified from cultured monkey (CV-1) cells. The enzyme which was purified to near homogeneity to be a 65 kDa monomeric protein. The single-strand DNase activity is endonucleolytic and nonprocessive, whereas the double-strand DNase activity is exonucleolytic and processive. The enzyme was a...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/20.16.4355
更新日期：1992-08-25 00:00:00
abstract：:Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome. SNPs are associated with altered response to drug treatment, susceptibility to disease and other phenotypic variation. Furthermore, during genetic screens for disease-associated mutatio...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkm979
更新日期：2008-01-01 00:00:00
abstract：:Motif3D is a web-based protein structure viewer designed to allow sequence motifs, and in particular those contained in the fingerprints of the PRINTS database, to be visualised on three-dimensional (3D) structures. Additional functionality is provided for the rhodopsin-like G protein-coupled receptors, enabling finge...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkg534
更新日期：2003-07-01 00:00:00
abstract：:Sug1 and Sug2 are two of six ATPases in the 19S regulatory particle of the 26S proteasome. We have shown previously that these proteins play a non-proteolytic role in the transcription of the GAL genes in yeast. In this study, we probe the requirement for these factors in stress-induced transcription in yeast. It is k...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkl012
更新日期：2006-03-03 00:00:00
abstract：:The multiprotein complexes involved in active dis-ruption of chromatin structure, homologous to yeast SWI/SNF complex, have been described for human and Drosophila cells. In all SWI/SNF-class complexes characterised so far, one of the key components is the SNF5-type protein. Here we describe the isolation of a plant (...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/27.11.2393
更新日期：1999-06-01 00:00:00
abstract：:We previously found that the splicing of exon 5 to exon 6 in the rat beta-TM gene required that exon 6 first be joined to the downstream common exon 8 (Helfman et al., Genes and Dev. 2, 1627-1638, 1988). Pre-mRNAs containing exon 5, intron 5 and exon 6 are not normally spliced in vitro. We have carried out a mutationa...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/22.12.2318
更新日期：1994-06-25 00:00:00
abstract：:In Trypanosoma brucei the genes are organised into long polycistronic transcription units and only three promoters for protein-encoding genes and a single terminator have been characterised. These promoters recruit a polI-like RNA polymerase for the transcription units encoding the two major stage-specific antigens of...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/28.2.597
更新日期：2000-01-15 00:00:00
abstract：:Struct2Net is a web server for predicting interactions between arbitrary protein pairs using a structure-based approach. Prediction of protein-protein interactions (PPIs) is a central area of interest and successful prediction would provide leads for experiments and drug design; however, the experimental coverage of t...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkq481
更新日期：2010-07-01 00:00:00
abstract：:Methionyl-tRNA synthetase belongs to the class I aminoacyl-tRNA synthetase family characterized both by a catalytic center built around a Rossmann Fold and by the presence of the two peptidic marker sequences HIGH and KMSKS. In this study, the role of the 21HLGH24 motif of Escherichia coli methionyl-tRNA synthetase wa...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/23.23.4793
更新日期：1995-12-11 00:00:00
abstract：:Antimicrobial peptides (AMPs) are gaining importance as anti-infective agents. Here we describe the updated Collection of Antimicrobial Peptide (CAMP) database, available online at http://www.camp.bicnirrh.res.in/. The 3D structures of peptides are known to influence antimicrobial activity. Although there exists datab...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkt1157
更新日期：2014-01-01 00:00:00
abstract：:We present RADAR--a rigorously annotated database of A-to-I RNA editing (available at http://RNAedit.com). The identification of A-to-I RNA editing sites has been dramatically accelerated in the past few years by high-throughput RNA sequencing studies. RADAR includes a comprehensive collection of A-to-I RNA editing si...
journal_title：Nucleic acids research
pub_type： 杂志文章
doi：10.1093/nar/gkt996
更新日期：2014-01-01 00:00:00
