PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

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 Res

journal_title

Nucleic acids research

authors

Hoang L,Byck S,Prevost L,Scriver CR

doi

10.1093/nar/24.1.127

subject

Has Abstract

pub_date

1996-01-01 00:00:00

pages

127-31

issue

1

eissn

0305-1048

issn

1362-4962

pii

5s1004

journal_volume

24

pub_type

杂志文章
  • R3D-2-MSA: the RNA 3D structure-to-multiple sequence alignment server.

    abstract::The RNA 3D Structure-to-Multiple Sequence Alignment Server (R3D-2-MSA) is a new web service that seamlessly links RNA three-dimensional (3D) structures to high-quality RNA multiple sequence alignments (MSAs) from diverse biological sources. In this first release, R3D-2-MSA provides manual and programmatic access to cu...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkv543

    authors: Cannone JJ,Sweeney BA,Petrov AI,Gutell RR,Zirbel CL,Leontis N

    更新日期:2015-07-01 00:00:00

  • The proapoptotic dp5 gene is a direct target of the MLK-JNK-c-Jun pathway in sympathetic neurons.

    abstract::The death of sympathetic neurons after nerve growth factor (NGF) withdrawal requires de novo gene expression. Dp5 was one of the first NGF withdrawal-induced genes to be identified and it encodes a proapoptotic BH3-only member of the Bcl-2 family. To study how dp5 transcription is regulated by NGF withdrawal we cloned...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkp175

    authors: Towers E,Gilley J,Randall R,Hughes R,Kristiansen M,Ham J

    更新日期:2009-05-01 00:00:00

  • Oncogene activation of HIV-LTR-driven expression via the NF-kappa B binding sites.

    abstract::The Raf-1 proto-oncogene product is a highly regulated serine/threonine kinase that functions in signal transduction downstream from growth factor receptors and upstream from nuclear proto-oncogene products. Using a transient cotransfection assay we have found that activated Raf-1 activates expression from the HIV-LTR...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/21.22.5229

    authors: Bruder JT,Heidecker G,Tan TH,Weske JC,Derse D,Rapp UR

    更新日期:1993-11-11 00:00:00

  • The ELAV RNA-stability factor HuR binds the 5'-untranslated region of the human IGF-IR transcript and differentially represses cap-dependent and IRES-mediated translation.

    abstract::The type I insulin-like growth factor receptor (IGF-IR) is an integral component in the control of cell proliferation, differentiation and apoptosis. The IGF-IR mRNA contains an extraordinarily long (1038 nt) 5'-untranslated region (5'-UTR), and we have characterized a diverse series of proteins interacting with this ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gki603

    authors: Meng Z,King PH,Nabors LB,Jackson NL,Chen CY,Emanuel PD,Blume SW

    更新日期:2005-05-24 00:00:00

  • The nucleotide sequence of the nitrogen-regulation gene ntrA of Klebsiella pneumoniae and comparison with conserved features in bacterial RNA polymerase sigma factors.

    abstract::The nucleotide sequence of the Klebsiella pneumoniae ntrA gene has been determined. NtrA encodes a 53,926 Dalton acidic polypeptide; a calculated molecular weight which is significantly lower than that determined by SDS polyacrylamide gel analysis. NtrA is followed by another open-reading frame (orf) of at least 75 am...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/13.21.7607

    authors: Merrick MJ,Gibbins JR

    更新日期:1985-11-11 00:00:00

  • Rates of formation and thermal stabilities of RNA:DNA and DNA:DNA duplexes at high concentrations of formamide.

    abstract::The thermal stabilities of RNA:DNA hybrids are substantially greater than those of DNA:DNA duplexes in aqueous electrolyte solutions containing high concentrations of formamide. Association rates to form DNA:DNA duplexes and DNA:RNA hybrids have been measured in these solvents. There is a temperature range in which DN...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/4.5.1539

    authors: Casey J,Davidson N

    更新日期:1977-01-01 00:00:00

  • 14-3-3tau associates with and activates the MEF2D transcription factor during muscle cell differentiation.

    abstract::Myocyte enhancer binding factor 2 (MEF2) proteins belong to the MADS box family of transcription factors and four MEF2 proteins, MEF2A, MEF2B, MEF2C and MEF2D, have been found. MEF2 proteins have been shown to play critical roles in differentiation of muscles and neuronal tissues. How transactivational activity of MEF...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/29.13.2836

    authors: Choi SJ,Park SY,Han TH

    更新日期:2001-07-01 00:00:00

  • Nucleotide flipping by restriction enzymes analyzed by 2-aminopurine steady-state fluorescence.

    abstract::Many DNA modification and repair enzymes require access to DNA bases and therefore flip nucleotides. Restriction endonucleases (REases) hydrolyze the phosphodiester backbone within or in the vicinity of the target recognition site and do not require base extrusion for the sequence readout and catalysis. Therefore, the...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkm513

    authors: Tamulaitis G,Zaremba M,Szczepanowski RH,Bochtler M,Siksnys V

    更新日期:2007-01-01 00:00:00

  • Remodeling of chromatin structure within the promoter is important for bmp-2-induced fgfr3 expression.

    abstract::Fibroblast growth factor receptor 3 (FGFR3) plays an important role in cartilage development. Although upregulation of FGFR3 expression in response to bone morphogenetic protein-2 (BMP-2) has been reported, the molecular mechanisms remain unknown. In this study, we used in vivo approaches to characterize BMP-2-induced...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkp261

    authors: Sun F,Chen Q,Yang S,Pan Q,Ma J,Wan Y,Chang CH,Hong A

    更新日期:2009-07-01 00:00:00

  • Functional analysis of a C. elegans trans-splice acceptor.

    abstract::The rol-6 gene is trans-spliced to the 22 nt leader, SL1, 173 nt downstream of the transcription start. We have analyzed splicing in transformants carrying extrachromosomal arrays of rol-6 with mutations in the trans-splice acceptor site. This site is a close match to the consensus, UUUCAG, that is highly conserved in...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/21.4.913

    authors: Conrad R,Liou RF,Blumenthal T

    更新日期:1993-02-25 00:00:00

  • Regulation of adenovirus alternative RNA splicing at the level of commitment complex formation.

    abstract::The adenovirus late region 1 (L1) represents an example of an alternatively spliced gene where one 5' splice site is spliced to two alternative 3' splice sites, to produce two mRNAs; the 52,55K and IIIa mRNAs, respectively. Accumulation of the L1 mRNAs is temporally regulated during the infectious cycle. Thus, the pro...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/22.3.332

    authors: Kreivi JP,Akusjärvi G

    更新日期:1994-02-11 00:00:00

  • Detection of labelled RNA species by contact hybridization.

    abstract::An improved contact hybridization technique for the analysis of labelled RNA species is presented. The method combines high sensitivity of detection with the high resolution of polyacrylamide gel electrophoresis and should be especially useful for the characterization of transient RNA precursor molecules. Its applicat...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/6.9.2963

    authors: Burckhardt J,Telford J,Birnstiel ML

    更新日期:1979-07-11 00:00:00

  • PARG is dispensable for recovery from transient replicative stress but required to prevent detrimental accumulation of poly(ADP-ribose) upon prolonged replicative stress.

    abstract::Poly(ADP-ribosyl)ation is involved in numerous bio-logical processes including DNA repair, transcription and cell death. Cellular levels of poly(ADP-ribose) (PAR) are regulated by PAR polymerases (PARPs) and the degrading enzyme PAR glycohydrolase (PARG), controlling the cell fate decision between life and death in re...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gku505

    authors: Illuzzi G,Fouquerel E,Amé JC,Noll A,Rehmet K,Nasheuer HP,Dantzer F,Schreiber V

    更新日期:2014-07-01 00:00:00

  • Locus-specific contig assembly in highly-duplicated genomes, using the BAC-RF method.

    abstract::Polyploidy, the presence of multiple sets of chromosomes that are similar but not identical, complicates both chromosome walking and assembly of sequence-ready contigs for many plant taxa including a large number of economically-significant crops. Traditional 'dot-blot hybridization' or PCR-based assays for identifyin...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/28.7.e23

    authors: Lin YR,Draye X,Qian X,Ren S,Zhu LH,Tomkins J,Wing RA,Li Z,Paterson AH

    更新日期:2000-04-01 00:00:00

  • High salt solution structure of a left-handed RNA double helix.

    abstract::Right-handed RNA duplexes of (CG)n sequence undergo salt-induced helicity reversal, forming left-handed RNA double helices (Z-RNA). In contrast to the thoroughly studied Z-DNA, no Z-RNA structure of natural origin is known. Here we report the NMR structure of a half-turn, left-handed RNA helix (CGCGCG)2 determined in ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkh736

    authors: Popenda M,Milecki J,Adamiak RW

    更新日期:2004-08-03 00:00:00

  • Displacement of a DNA binding protein by Dda helicase.

    abstract::Bacteriophage T4 Dda helicase has recently been shown to be active as a monomer for unwinding of short duplex oligonucleotides and for displacing streptavidin from 3'-biotinylated oligonucleotides. However, its activity for streptavidin displacement and DNA unwinding has been shown to increase as the number of Dda mol...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkl369

    authors: Byrd AK,Raney KD

    更新日期:2006-05-31 00:00:00

  • Altered cleavage of DNA sequences by bleomycin and its deglycosylated derivative in the presence of actinomycin.

    abstract::The antitumour antibiotics bleomycin and actinomycin are commonly used therapeutically in combination. One causes metal ion- and oxygen-dependent oxidative damage to DNA, while the other acts at the level of DNA via intercalation of its phenoxazone chromophore and probable inhibition of topoisomerases. Both drugs bind...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/25.8.1516

    authors: Bailly C,Kénani A,Waring MJ

    更新日期:1997-04-15 00:00:00

  • Gramene 2018: unifying comparative genomics and pathway resources for plant research.

    abstract::Gramene (http://www.gramene.org) is a knowledgebase for comparative functional analysis in major crops and model plant species. The current release, #54, includes over 1.7 million genes from 44 reference genomes, most of which were organized into 62,367 gene families through orthologous and paralogous gene classificat...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkx1111

    authors: Tello-Ruiz MK,Naithani S,Stein JC,Gupta P,Campbell M,Olson A,Wei S,Preece J,Geniza MJ,Jiao Y,Lee YK,Wang B,Mulvaney J,Chougule K,Elser J,Al-Bader N,Kumari S,Thomason J,Kumar V,Bolser DM,Naamati G,Tapanari E,Fo

    更新日期:2018-01-04 00:00:00

  • Unidirectional translocation from recognition site and a necessary interaction with DNA end for cleavage by Type III restriction enzyme.

    abstract::Type III restriction enzymes have been demonstrated to require two unmethylated asymmetric recognition sites oriented head-to-head to elicit double-strand break 25-27 bp downstream of one of the two sites. The proposed DNA cleavage mechanism involves ATP-dependent DNA translocation. The sequence context of the recogni...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkh899

    authors: Raghavendra NK,Rao DN

    更新日期:2004-10-22 00:00:00

  • Cap-independent translation initiation in Xenopus oocytes.

    abstract::Eukaryotic cellular mRNAs contain a cap at their 5'-ends, but some viral and cellular mRNAs bypass the cap-dependent mechanism of translation initiation in favor of internal entry of ribosomes at specific RNA sequences. Cap-dependent initiation requires intact initiation factor eIF4G (formerly eIF-4gamma, eIF-4Fgamma ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/25.2.395

    authors: Keiper BD,Rhoads RE

    更新日期:1997-01-15 00:00:00

  • Genome wide interactions of wild-type and activator bypass forms of σ54.

    abstract::Enhancer-dependent transcription involving the promoter specificity factor σ(54) is widely distributed amongst bacteria and commonly associated with cell envelope function. For transcription initiation, σ(54)-RNA polymerase yields open promoter complexes through its remodelling by cognate AAA+ ATPase activators. Since...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkv597

    authors: Schaefer J,Engl C,Zhang N,Lawton E,Buck M

    更新日期:2015-09-03 00:00:00

  • Protein structure prediction using sparse dipolar coupling data.

    abstract::Residual dipolar coupling (RDC) represents one of the most exciting emerging NMR techniques for protein structure studies. However, solving a protein structure using RDC data alone is still a highly challenging problem. We report here a computer program, RDC-PROSPECT, for protein structure prediction based on a struct...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkh204

    authors: Qu Y,Guo JT,Olman V,Xu Y

    更新日期:2004-01-26 00:00:00

  • Entirely enzymatic nanofabrication of DNA-protein conjugates.

    abstract::While proteins are highly biochemically competent, DNA offers the ability to program, both reactions and the assembly of nanostructures, with a control that is unprecedented by any other molecule. Their joining: DNA-protein conjugates - offer the ability to combine the programmability of DNA with the competence of pro...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkx707

    authors: Bernardinelli G,Högberg B

    更新日期:2017-10-13 00:00:00

  • Control of ϕC31 integrase-mediated site-specific recombination by protein trans-splicing.

    abstract::Serine integrases are emerging as core tools in synthetic biology and have applications in biotechnology and genome engineering. We have designed a split-intein serine integrase-based system with potential for regulation of site-specific recombination events at the protein level in vivo. The ϕC31 integrase was split i...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkz936

    authors: Olorunniji FJ,Lawson-Williams M,McPherson AL,Paget JE,Stark WM,Rosser SJ

    更新日期:2019-12-02 00:00:00

  • Cellular gene induction during herpes simplex virus infection can occur without viral protein synthesis.

    abstract::Infection of cultured cells with herpes simplex virus (HSV) results in the transcriptional induction of a small number of cellular genes. Although the majority of such genes are dependent upon viral protein synthesis for their induction, a small minority are not. These genes are induced by events occurring prior to th...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/14.23.9261

    authors: Kemp LM,Preston CM,Preston VG,Latchman DS

    更新日期:1986-12-09 00:00:00

  • Recent enhancements to the Blocks Database servers.

    abstract::The Blocks Database contains multiple alignments of conserved regions in protein families which can be searched by e-mail (blocks@blocks.fhcrc.org) and World Wide Web (http://blocks.fhcrc.org/ ) servers to classify protein and nucleotide sequences. Recent enhancements to the servers include: (i) improved calculation o...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/25.1.222

    authors: Henikoff JG,Pietrokovski S,Henikoff S

    更新日期:1997-01-01 00:00:00

  • Signal structure for transcriptional activation in the upstream regions of virulence genes on the hairy-root-inducing plasmid A4.

    abstract::The inducibility of the vir genes (virA, -B, -C, -D, -E, and -G) on pRiA4 was examined at the transcriptional level, and the RNA-starting sites were determined by S1-nuclease mapping and primer-extension experiments. All of these genes were inducible, while virA, -E, and -G were transcribed even under noninducing cond...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/17.21.8711

    authors: Aoyama T,Takanami M,Oka A

    更新日期:1989-11-11 00:00:00

  • Localization of mitochondrial DNA base excision repair to an inner membrane-associated particulate fraction.

    abstract::Mitochondrial DNA (mtDNA) contains high levels of oxidative damage relative to nuclear DNA. A full, functional DNA base excision repair (BER) pathway is present in mitochondria, to repair oxidative DNA lesions. However, little is known about the organization of this pathway within mitochondria. Here, we provide eviden...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gki683

    authors: Stuart JA,Mayard S,Hashiguchi K,Souza-Pinto NC,Bohr VA

    更新日期:2005-07-08 00:00:00

  • Intronically encoded siRNAs improve dynamic range of mammalian gene regulation systems and toggle switch.

    abstract::Applications of conditional gene expression, whether for therapeutic or basic research purposes, are increasingly requiring mammalian gene control systems that exhibit far tighter control properties. While numerous approaches have been used to improve the widely used Tet-regulatory system, many applications, particula...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkn443

    authors: Greber D,El-Baba MD,Fussenegger M

    更新日期:2008-09-01 00:00:00

  • Characterization and purification of Adh distal promoter factor 2, Adf-2, a cell-specific and promoter-specific repressor in Drosophila.

    abstract::Chromatin footprinting in Drosophila tissue culture cells has detected the binding of a non-histone protein at +8 of the distal Adh RNA start site, on a 10-bp direct repeat motif abutting a nucleosome positioned over the inactive Adh distal promoter. Alternatively the active promoter is bound by a transcription initia...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/20.17.4481

    authors: Benyajati C,Ewel A,McKeon J,Chovav M,Juan E

    更新日期:1992-09-11 00:00:00