2012
Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations
Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H. Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e1978-e1986. PMID: 22865906, PMCID: PMC3462928, DOI: 10.1210/jc.2012-1279.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsFamilial Hypophosphatemic RicketsFamily HealthFanconi SyndromeFemaleGenes, RecessiveGenetic VariationGenome-Wide Association StudyGlucose Transporter Type 1Glucose Transporter Type 2HumansHypercalciuriaHypophosphatemia, FamilialKidney Tubules, ProximalMaleMiceMice, TransgenicMolecular Sequence DataOocytesPedigreeRicketsSodium-Phosphate Cotransporter Proteins, Type IIaSodium-Phosphate Cotransporter Proteins, Type IIcXenopus laevisConceptsGlucose transporter 2Sequence analysis of candidate genesCandidate genesSequence analysisGenome-wide linkage scanAnalysis of candidate genesFanconi-Bickel syndromeProximal renal tubulopathyRenal tubulopathyNucleotide sequence analysisGenetic mappingHomozygous mutationPhosphate importLinkage scanMolecular basisXenopus oocytesTransport of glucoseGLUT2 mutationsMolecular levelGenesGlucose transportUrinary phosphate excretionAllelic variantsPhosphate homeostasisDirect nucleotide sequence analysis
2007
Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel.
Tian C, Okam M, Alper S, Steinberg M, Brugnara C, Gallagher P. Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel. Blood 2007, 110: 3387. DOI: 10.1182/blood.v110.11.3387.3387.Peer-Reviewed Original ResearchModifier genesMissense mutationsChannel genesSequence analysisErythrocyte hydrationSmaller mRNA speciesGenetic variantsReverse transcription-PCR analysisNucleotide sequence analysisBand 3Disease-associated mutationsCore promoter regionFunction of transportersBand 3 geneAquaporin-1 geneAberrant mRNAsSmaller transcriptMRNA speciesIdentification of targetsAquaporin 3 genePromoter regionSplice junctionsChannel proteinsChannel mRNARegion exons
2005
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Jüppner H. SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis. American Journal Of Human Genetics 2005, 78: 179-192. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.Peer-Reviewed Original ResearchConceptsConsanguineous BedouinFirst membrane-spanning domainMembrane-spanning domainsPhosphate homeostasisRenal sodium-phosphate cotransporterNucleotide sequence analysisDihydroxyvitamin D levelsSingle nucleotide deletionHereditary hypophosphatemic ricketsCompound heterozygous missenseSLC34A3 mutationsHomozygous single nucleotide deletionHypophosphatemic ricketsLinkage scanCandidate genesGenomic DNASodium-phosphate cotransporterSequence analysisD levelsHomozygosity mappingDeletion mutationsGenomewide linkage scanKey roleChromosome 9q34Mutations
1993
Nucleotide sequence analysis of the A protein of the U1 small nuclear ribonucleoprotein particle: the murine protein contains a 5' amino-terminal tag
Bennett M, Baron M, Craft J. Nucleotide sequence analysis of the A protein of the U1 small nuclear ribonucleoprotein particle: the murine protein contains a 5' amino-terminal tag. Nucleic Acids Research 1993, 21: 4404-4404. PMID: 8415008, PMCID: PMC310090, DOI: 10.1093/nar/21.18.4404.Peer-Reviewed Original Research
1992
Nucleotide sequence and genomic structure analyses of the p70 subunit of the human Ku autoantigen: evidence for a family of genes encoding Ku (p70)-related polypeptides
Griffith A, Craft J, Evans J, Mimori T, Hardin J. Nucleotide sequence and genomic structure analyses of the p70 subunit of the human Ku autoantigen: evidence for a family of genes encoding Ku (p70)-related polypeptides. Molecular Biology Reports 1992, 16: 91-97. PMID: 1608402, DOI: 10.1007/bf00419754.Peer-Reviewed Original ResearchConceptsHuman Ku autoantigenKu autoantigenGenomic structure analysisFamily of genesHomologous DNA sequencesOpen reading frameEntire open reading frameNucleotide sequence analysisAmino acid polymorphismsSouthern blot analysisP70 polypeptidesHuman genomeReading frameDNA sequencesNucleotide sequenceP70 subunitMultiple genesExpression analysisSequence analysisAcid polymorphismsMultiple copiesBlot analysisPolypeptideGenesSequence
1989
The RNA Processing Enzyme RNase MRP Is Identical to the Th RNP and Related to RNase P
Gold H, Topper J, Clayton D, Craft J. The RNA Processing Enzyme RNase MRP Is Identical to the Th RNP and Related to RNase P. Science 1989, 245: 1377-1380. PMID: 2476849, DOI: 10.1126/science.2476849.Peer-Reviewed Original ResearchConceptsRNA processing enzymesRNase MRPMitochondrial RNA processing enzymeProcessing enzymesRNase MRP activityHuman cell extractsNucleotide sequence analysisRNP enzymeEukaryotic cellsRibonuclease PBiochemical purificationRNase PRNA componentRNA transcriptsSequence analysisCell extractsRNPMRP activityEnzymeMRPTerminusMitochondriaTranscriptsPolypeptideBinds
1987
Increased Frequency of N-Region Insertion in a Murine Pre-B-Cell Line Infected with a Terminal Deoxynucleotidyl Transferase Retroviral Expression Vector
Landau N, Schatz D, Rosa M, Baltimore D. Increased Frequency of N-Region Insertion in a Murine Pre-B-Cell Line Infected with a Terminal Deoxynucleotidyl Transferase Retroviral Expression Vector. Molecular And Cellular Biology 1987, 7: 3237-3243. DOI: 10.1128/mcb.7.9.3237-3243.1987.Peer-Reviewed Original ResearchPre-B-cell lineN-region insertionsCell linesExpression vectorRetroviral expression vectorImmunoglobulin light chain genesNucleotide sequence analysisV-J junctionLight chain genesGene junctionPre-B-cellSequence analysisMurine pre-B-cell lineTerminal deoxynucleotidyl transferaseRearranged genesImmunoglobulin genesJunction sitesN regionRearranged provirusesPresence of TdTGenesInfected cellsRearrangement substratesDeoxynucleotidyl transferaseNucleotideIncreased frequency of N-region insertion in a murine pre-B-cell line infected with a terminal deoxynucleotidyl transferase retroviral expression vector.
Landau NR, Schatz DG, Rosa M, Baltimore D. Increased frequency of N-region insertion in a murine pre-B-cell line infected with a terminal deoxynucleotidyl transferase retroviral expression vector. Molecular And Cellular Biology 1987, 7: 3237-3243. PMID: 3118194, PMCID: PMC367960, DOI: 10.1128/mcb.7.9.3237.Peer-Reviewed Original ResearchConceptsPre-B cell linesN-region insertionsRetroviral expression vectorExpression vectorCell linesMurine pre-B cell lineImmunoglobulin light chain genesNucleotide sequence analysisLight chain genesV-J junctionGene junctionSequence analysisImmunoglobulin genesGenesRearrangement substratesTerminal deoxynucleotidyl transferaseContinuous rearrangementApparent absenceJunctional sitesProvirusDeoxynucleotidyl transferaseRearrangementControl vectorN regionInsertionIncreased Frequency of N-Region Insertion in a Murine Pre-B-Cell Line Infected with a Terminal Deoxynucleotidyl Transferase Retroviral Expression Vector
Landau N, Schatz D, Rosa M, Baltimore D. Increased Frequency of N-Region Insertion in a Murine Pre-B-Cell Line Infected with a Terminal Deoxynucleotidyl Transferase Retroviral Expression Vector. Molecular And Cellular Biology 1987, 7: 3237-3243. DOI: 10.1128/mcb.7.9.3237-3243.1987.Peer-Reviewed Original ResearchPre-B cell linesN-region insertionsRetroviral expression vectorExpression vectorCell linesMurine pre-B cell lineImmunoglobulin light chain genesNucleotide sequence analysisLight chain genesV-J junctionGene junctionSequence analysisImmunoglobulin genesGenesRearrangement substratesTerminal deoxynucleotidyl transferaseContinuous rearrangementApparent absenceJunctional sitesProvirusDeoxynucleotidyl transferaseRearrangementControl vectorN regionInsertionCloning and characterization of the gene coding for cytoplasmic seryl-tRNA synthetase from Saccharomyces cerevisiae
Weygand-Durasevic I, johnson-Burke D, Söll D. Cloning and characterization of the gene coding for cytoplasmic seryl-tRNA synthetase from Saccharomyces cerevisiae. Nucleic Acids Research 1987, 15: 1887-1904. PMID: 3031581, PMCID: PMC340606, DOI: 10.1093/nar/15.5.1887.Peer-Reviewed Original ResearchConceptsSeryl-tRNA synthetaseSingle open reading frameAbundant yeast proteinsGenomic Southern blotsNuclease S1 analysisOpen reading frameTranslation initiation codonAmino acid sequenceKb SalI fragmentNucleotide sequence analysisAT-rich sequencesYeast proteinsStructural geneCodon usageS1 analysisTATA boxInitiation codonReading frameSer geneSalI fragmentAcid sequenceExpression librarySequence analysisRich sequencesSouthern blot
1986
The RNA required in the first step of chlorophyll biosynthesis is a chloroplast glutamate tRNA
Schön A, Krupp G, Gough S, Berry-Lowe S, Kannangara C, Söll D. The RNA required in the first step of chlorophyll biosynthesis is a chloroplast glutamate tRNA. Nature 1986, 322: 281-284. PMID: 3637637, DOI: 10.1038/322281a0.Peer-Reviewed Original ResearchConceptsΔ-aminolevulinatePeptide bond synthesisCognate amino acidMolecules of chlorophyllLow relative molecular massNucleotide sequence analysisRelative molecular massBond synthesisSubsequent reactionChlorophyll biosynthesisTransfer RNAUniversal precursorGlutamate tRNAAminoacyl bondSequence analysisNovel roleSerial affinity chromatographyMolecular massRNAAmino acidsComplete reactionBlue SepharoseAcceptor RNAReduction of glutamateReaction
1982
Bacteriophage T4 gene 45. Sequences of the structural gene and its protein product.
Spicer E, Noble J, Nossal N, Konigsberg W, Williams K. Bacteriophage T4 gene 45. Sequences of the structural gene and its protein product. Journal Of Biological Chemistry 1982, 257: 8972-8979. PMID: 6284751, DOI: 10.1016/s0021-9258(18)34228-5.Peer-Reviewed Original ResearchConceptsGene 45T4 late gene transcriptionT4 DNA replication complexRNA polymerase recognitionT4 DNA replicationLate gene transcriptionDNA replication complexTranslation initiation regionNucleotide sequence analysisGenes 46Protein chemistry studiesRegA proteinStructural geneSequence similarityDNA replicationPutative promoterRNA polymeraseReplication complexGene transcriptionProtein productsSequence analysisPrimary structureInitiation regionRIIB genePolymerase recognition
1980
Dimeric tRNA precursors in yeast
Schmidt O, Mao J, Ogden R, Beckmann J, Sakano H, Abelson J, Söll D. Dimeric tRNA precursors in yeast. Nature 1980, 287: 750-752. PMID: 6253814, DOI: 10.1038/287750a0.Peer-Reviewed Original ResearchConceptsDimeric tRNA precursorTRNA precursorsDNA fragmentsYeast tRNA genesDifferent genomic regionsNucleotide sequence analysisTRNA genesSaccharomyces cerevisiae1Xenopus nucleiGenomic regionsSpecific transcriptionTRNA speciesPrecursor RNARNA precursorsTRNA moleculesGene regionSequence analysisGene configurationEnzyme activityGenesMode of expressionFragmentsTranscriptionYeastTRNAAsp
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