2024
AXIN1 mutations in nonsyndromic craniosynostosis.
Timberlake A, Hemal K, Gustafson J, Hao L, Valenzuela I, Slavotinek A, Cunningham M, Kahle K, Lifton R, Persing J. AXIN1 mutations in nonsyndromic craniosynostosis. Journal Of Neurosurgery Pediatrics 2024, 34: 246-251. PMID: 38905707, PMCID: PMC11200303, DOI: 10.3171/2024.5.peds24115.Peer-Reviewed Original ResearchSequence dataAXIN1 mutationsCase-parent triosGenome-wide significanceCS casesNonsyndromic CSGenome sequencing projectsWnt signalingExome sequencing dataRNA sequencing dataPhenotypes associated with mutationsSequencing projectsGenetic testingInhibitor of Wnt signalingLive birthsNonsyndromic casesGenetic etiologyGenetic causeCS patientsAXIN1Nonsyndromic craniosynostosisMutationsHealthy controlsBirth defectsExome
2011
Population Genetic Analysis of Plasmodium falciparum Parasites Using a Customized Illumina GoldenGate Genotyping Assay
Campino S, Auburn S, Kivinen K, Zongo I, Ouedraogo J, Mangano V, Djimde A, Doumbo O, Kiara S, Nzila A, Borrmann S, Marsh K, Michon P, Mueller I, Siba P, Jiang H, Su X, Amaratunga C, Socheat D, Fairhurst R, Imwong M, Anderson T, Nosten F, White N, Gwilliam R, Deloukas P, MacInnis B, Newbold C, Rockett K, Clark T, Kwiatkowski D. Population Genetic Analysis of Plasmodium falciparum Parasites Using a Customized Illumina GoldenGate Genotyping Assay. PLOS ONE 2011, 6: e20251. PMID: 21673999, PMCID: PMC3108946, DOI: 10.1371/journal.pone.0020251.Peer-Reviewed Original ResearchConceptsPopulation genetic studiesIllumina GoldenGateGenetic studiesSingle nucleotide polymorphism (SNP) discoveryLarge-scale population genetic studiesLaboratory clonesPopulation genetic diversityPopulation genetic analysesGenome sequencing projectsPlasmodium falciparum genomeTotal genomic DNAParasite population dynamicsMinor frequency allelesFalciparum genomePolymorphism discoveryGenetic diversitySequencing projectsWhole genomeP. falciparumGenetic analysisImportant phenotypesGenomic DNAHigh SNPPopulation dynamicsMultiple-clone infections
1998
Characterization of dacC, Which Encodes a New Low-Molecular-Weight Penicillin-Binding Protein in Bacillus subtilis
Pedersen L, Murray T, Popham D, Setlow P. Characterization of dacC, Which Encodes a New Low-Molecular-Weight Penicillin-Binding Protein in Bacillus subtilis. Journal Of Bacteriology 1998, 180: 4967-4973. PMID: 9733705, PMCID: PMC107527, DOI: 10.1128/jb.180.18.4967-4973.1998.Peer-Reviewed Original ResearchConceptsWeight penicillin-binding proteinsPenicillin-binding proteinsBacillus subtilis genome sequencing projectB. subtilis chromosomeGenome sequencing projectsWild-type cellsWild-type sporesInsertional mutantsPenicillin binding proteinsSequencing projectsSequence homologyUnknown functionBacillus subtilisEscherichia coliGenesPBP genesProteinSame heat resistanceOutgrowth kineticsExpressionSigmaHMutantsChromosomesHomologyPromoter
1996
Deciphering isozyme function: exploring cell biology with chemistry in the post-genomic era
Crews C. Deciphering isozyme function: exploring cell biology with chemistry in the post-genomic era. Cell Chemical Biology 1996, 3: 961-965. PMID: 9000005, DOI: 10.1016/s1074-5521(96)90162-3.Peer-Reviewed Original ResearchTrends and Challenges in Experimental Macromolecular Crystallography
Chayen N, Boggon T, Cassetta A, Deacon A, Gleichmann T, Habash J, Harrop S, Helliwell J, Nieh Y, Peterson M, Raftery J, Snell E, Hädener A, Niemann A, Siddons D, Stojanoff V, Thompson A, Ursby T, Wulff M. Trends and Challenges in Experimental Macromolecular Crystallography. Quarterly Reviews Of Biophysics 1996, 29: 227-278. PMID: 8968112, DOI: 10.1017/s0033583500005837.Peer-Reviewed Original ResearchConceptsHuman genome sequencing projectGenome sequencing projectsModern drug discoveryStructural molecular biologyPrimary sequencingYeast genomeBiological chemistryStructural chemistrySequencing projectsBiological macromoleculesStructural DatabaseRational designMolecular biologyCognate ligandsDrug discoveryMolecular interactionsEnzyme reactivityMacromolecular crystallographyNovel inhibitorsChemistryNucleic acidsVirus structureFunctional detailsStructural detailsPharmaceutical industry
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