2025
Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS
Goovaerts S, Naqvi S, Hoskens H, Herrick N, Yuan M, Shriver M, Shaffer J, Walsh S, Weinberg S, Wysocka J, Claes P. Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS. Communications Biology 2025, 8: 439. PMID: 40087503, PMCID: PMC11909261, DOI: 10.1038/s42003-025-07875-6.Peer-Reviewed Original ResearchConceptsCranial vault shapeVault shapeGenomic lociGenetic discovery effortsSNP discoveryCraniofacial developmentGenetic architectureGWAS dataGWAS studiesTranscription factorsGenetic studiesCranial vaultGenetic understandingShape variationSignaling pathwayBrain shapeExperimental biologyBrain shape variationCraniofacial complexFDR methodLociDiscovery effortsFacial shapeWealth of knowledgeGWASA fluorescence-based assay for measuring aminopropyltransferase activity
Singh P, Choi J, Ben Mamoun C. A fluorescence-based assay for measuring aminopropyltransferase activity. Methods In Enzymology 2025, 715: 363-388. PMID: 40382149, DOI: 10.1016/bs.mie.2025.01.067.Peer-Reviewed Original ResearchConceptsAminopropyl transferaseFluorescence-based assaySpermine synthase activityHigh-throughput chemical screeningSaccharomyces cerevisiaeFormation of spermidinePrincipal polyaminesCellular processesHigh-throughput screeningCellular functionsSubstrate analogsSpermidine synthaseDrug discovery effortsPolyamine biosynthesisLiving cellsChemical screeningEnzymeNeurodegenerative disordersPolycationic alkylaminesSynthase activityDiscovery effortsNovel inhibitorsAPT activityChemical librariesInfectious diseases
2023
Network embedding unveils the hidden interactions in the mammalian virome
Poisot T, Ouellet M, Mollentze N, Farrell M, Becker D, Brierley L, Albery G, Gibb R, Seifert S, Carlson C. Network embedding unveils the hidden interactions in the mammalian virome. Patterns 2023, 4: 100738. PMID: 37409053, PMCID: PMC10318366, DOI: 10.1016/j.patter.2023.100738.Peer-Reviewed Original ResearchMammalian viromeViral genomic featuresHost-virus interactionsGraph embeddingGenomic featuresNetwork science problemUnder-characterizedFundamental biologyHuman infectionsViromeRecommender systemsDiscovery effortsAmazon basinDisease emergenceHidden interactionsImputation algorithmData biasNetworkLinear filterScience problemsThe Difficult Path to the Discovery of Novel Treatments in Psychiatric Disorders
Gribkoff V, Kaczmarek L. The Difficult Path to the Discovery of Novel Treatments in Psychiatric Disorders. Advances In Neurobiology 2023, 30: 255-285. PMID: 36928854, PMCID: PMC10599454, DOI: 10.1007/978-3-031-21054-9_11.Peer-Reviewed Original ResearchConceptsNervous system diseasesSystem diseasesPsychiatric disordersPsychiatric patientsNew drugsDetermination of efficacyDiseases/disordersNovel therapiesNovel treatmentsPsychiatric diseasesDiscovery effortsNew therapeuticsDisordersDiseaseDrugsPatientsFace validityPredictive validityTreatmentDiscoveryPresent particular challengesHuman healthRecent advancesTherapyClinicians
2022
Accelerating Metabolite Identification Mass Spectrometry Technology Drives Metabolite Identification Studies Forward
NASSAR A. Accelerating Metabolite Identification Mass Spectrometry Technology Drives Metabolite Identification Studies Forward. 2022, 267-302. DOI: 10.1002/9781119851042.ch8.Peer-Reviewed Original ResearchDrug candidatesDrug discoveryLC-MSLiquid chromatography-mass spectrometryChromatography-mass spectrometryMetabolite identification studiesSuccessful drug candidatesFlight mass spectrometryDrug discovery effortsMass spectrometry technologyTriple quadrupoleADMET studiesStructural assignmentMass spectrometryMetabolite characterizationLead compoundsSpectrometry technologyIon trapDiscovery effortsOverall safety profileHuman-specific metabolitesSpectrometryDrug development processMetabolism issuesMetabolite profilingMammal virus diversity estimates are unstable due to accelerating discovery effort
Gibb R, Albery G, Mollentze N, Eskew E, Brierley L, Ryan S, Seifert S, Carlson C. Mammal virus diversity estimates are unstable due to accelerating discovery effort. Biology Letters 2022, 18: 20210427. PMID: 34982955, PMCID: PMC8727147, DOI: 10.1098/rsbl.2021.0427.Peer-Reviewed Original ResearchConceptsViral richnessHost speciesReliability of ecological inferenceGeographic sampling biasEvidence of declineViral diversityHost-virus associationsRearrangement of speciesSampling effortVirus discovery ratesEcological inferenceDiscovery effortsMammal hostsWild mammalsDiversity estimatesSampled hostsVirus diversityShort-term changesRichnessSampling biasSpeciesAssociation dataDiscovery rateDiversityCompare inferences
2021
An Asian-specific MPL genetic variant alters JAK–STAT signaling and influences platelet count in the population
Sun P, Zhou W, Fu Y, Cheung C, Dong Y, Yang M, Zhang H, Jia J, Huo Y, Willer C, Chen Y, Tang C, Tse H, Lam K, Gao W, Xu M, Yu H, Sham P, Zhang Y, Ganesh S. An Asian-specific MPL genetic variant alters JAK–STAT signaling and influences platelet count in the population. Human Molecular Genetics 2021, 30: 836-842. PMID: 33693786, PMCID: PMC8161516, DOI: 10.1093/hmg/ddab062.Peer-Reviewed Original ResearchConceptsHematological traitsCoding variantsJAK-STATGenome-wide association studiesJAK-STAT signal transduction pathwayJAK-STAT signalingPhosphorylation of STAT3Signal transduction pathwaysGenomic discovery effortsEnhanced phosphorylation of STAT3Han Chinese populationIndependent SNPsHan Chinese subjectsAssociation studiesGenetic discoveriesGenetic variantsTransduction pathwaysBa/F3 cellsPopulation frequencyEuropean ancestryEnhanced phosphorylationMyeloproliferative leukemiaFunctional analysisAfrican populationsDiscovery efforts
2020
Defining the landscape of ATP-competitive inhibitor resistance residues in protein kinases
Persky NS, Hernandez D, Do Carmo M, Brenan L, Cohen O, Kitajima S, Nayar U, Walker A, Pantel S, Lee Y, Cordova J, Sathappa M, Zhu C, Hayes TK, Ram P, Pancholi P, Mikkelsen TS, Barbie DA, Yang X, Haq R, Piccioni F, Root DE, Johannessen CM. Defining the landscape of ATP-competitive inhibitor resistance residues in protein kinases. Nature Structural & Molecular Biology 2020, 27: 92-104. PMID: 31925410, DOI: 10.1038/s41594-019-0358-z.Peer-Reviewed Original ResearchConceptsMammalian kinasesDeep mutational scanning dataDrug discovery effortsProtein kinaseMutagenesis dataMutant kinasesKinase activityDrug resistanceKinomeKinaseDiscovery effortsRelevant inhibitorsResiduesDisease developmentResistance mutationsMutationsActivation siteERK2MEK1MutantsBroader interrogationInhibitorsCSNK2A1Valuable toolTBK1
2018
Patient-derived conditionally reprogrammed cells maintain intra-tumor genetic heterogeneity
Correa BRS, Hu J, Penalva LOF, Schlegel R, Rimm DL, Galante PAF, Agarwal S. Patient-derived conditionally reprogrammed cells maintain intra-tumor genetic heterogeneity. Scientific Reports 2018, 8: 4097. PMID: 29511269, PMCID: PMC5840339, DOI: 10.1038/s41598-018-22427-1.Peer-Reviewed Original ResearchConceptsDrug target identificationNon-small cell lung cancerCancer cell biologyIntra-tumor genetic heterogeneityDrug discovery effortsMutant-allele tumor heterogeneity (MATH) scoreCell biologyWhole-exome sequencingCell heterogeneityNumber variationsPatient-derived cell culturesDiscovery effortsCR cellsCancer cell linesIntra-tumoral heterogeneityGenetic heterogeneityCell linesExome sequencingTarget identificationCell lung cancerLung cancer modelBiologyCell culturesMolecular characteristicsPrimary cultures
2015
Creating Patient-Specific Neural Cells for the In Vitro Study of Brain Disorders
Brennand KJ, Marchetto MC, Benvenisty N, Brüstle O, Ebert A, Belmonte J, Kaykas A, Lancaster MA, Livesey FJ, McConnell MJ, McKay RD, Morrow EM, Muotri AR, Panchision DM, Rubin LL, Sawa A, Soldner F, Song H, Studer L, Temple S, Vaccarino FM, Wu J, Vanderhaeghen P, Gage FH, Jaenisch R. Creating Patient-Specific Neural Cells for the In Vitro Study of Brain Disorders. Stem Cell Reports 2015, 5: 933-945. PMID: 26610635, PMCID: PMC4881284, DOI: 10.1016/j.stemcr.2015.10.011.Peer-Reviewed Original Research
2014
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods
Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA, the TIC Genetics Collaborative Group. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. European Child & Adolescent Psychiatry 2014, 24: 141-151. PMID: 24771252, PMCID: PMC4209328, DOI: 10.1007/s00787-014-0543-x.Peer-Reviewed Original ResearchConceptsGenetic studiesSimilar genetic architectureGene discovery effortsMultiply affected pedigreesSingle major geneParent-child triosGenetic architectureMultigenic inheritanceDe novo mutationsMajor geneGenomic researchCollaborative Genetics StudyAffected pedigreesDiscovery effortsGenetic variantsGenetic contributionGenetics ConsortiumNovo mutationsGenesRare variantsBroader scientific communityGenetic riskRecent progressGeneticsVariants
2010
Approaches to Performing Metabolite Elucidation: One Key to Success in Drug Discovery and Development
Nassar A. Approaches to Performing Metabolite Elucidation: One Key to Success in Drug Discovery and Development. 2010, 1-23. DOI: 10.1002/9780470571224.pse108.Peer-Reviewed Original Research
2006
Recent Advances in the Genetics of Autism
Gupta AR, State MW. Recent Advances in the Genetics of Autism. Biological Psychiatry 2006, 61: 429-437. PMID: 16996486, DOI: 10.1016/j.biopsych.2006.06.020.Peer-Reviewed Original ResearchConceptsGenomic technologiesGene discovery effortsCandidate gene association studiesHuman Genome ProjectGenetics of autismGene association studiesGenome ProjectAssociation studiesDiscovery effortsSpecific genetic etiologiesGenetic originGenetic etiologyRecent linkageGenetic disordersSolid cluesRecent advancesDeoxyribonucleic acid samplesGeneticsHeritabilityPotential contributionPromising avenueAutism spectrum disorderThe impact of recent innovations in the use of liquid chromatography-mass spectrometry in support of drug metabolism studies: are we all the way there yet?
Nassar A, Talaat R, Kamel A. The impact of recent innovations in the use of liquid chromatography-mass spectrometry in support of drug metabolism studies: are we all the way there yet? Current Opinion In Drug Discovery & Development 2006, 9: 61-74. PMID: 16445118.Peer-Reviewed Original ResearchConceptsLC-MSDrug metabolism studiesOptimal balance of propertiesTime-of-flight mass spectrometryCombination of LC-MSDrug discoveryArea of drug metabolismLiquid chromatography-mass spectrometryTriple quadrupoleChiral separationADMET studiesChromatography-mass spectrometryIon trapMetabolite characterizationDrug discovery effortsBalance of propertiesMass spectrometryLead compoundsIsotope labelingMetabolic studiesStable isotope labelingADMETDrug candidatesDiscovery effortsSpectrometry
1996
[26] Synthesis and evaluation of 1,4-benzodiazepine libraries
Bunin B, Plunkett M, Ellman J. [26] Synthesis and evaluation of 1,4-benzodiazepine libraries. Methods In Enzymology 1996, 267: 448-465. PMID: 8743332, DOI: 10.1016/s0076-6879(96)67028-1.Peer-Reviewed Original ResearchConceptsSolid-phase synthesis methodLead compoundsMillions of compoundsClass of moleculesChemical functionalityBenzodiazepine derivativesDrug discovery effortsLarge combinatorial librariesBroad biological activitiesLead identificationKey recognition elementRecognition elementSynthesis methodCombinatorial librariesEnzyme targetsDesirable pharmacokineticsHigh-affinity ligandsSimultaneous synthesisCompoundsBiological activityDiscovery effortsPowerful chemicalBiological methodsSynthesisDerivatives
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply