2025
Possible role of mosaic mutations of neurodevelopmental disorder-related genes in bipolar disorder: Lessons from Kmt2c chimeric heterozygous knockout mice
Nakamura T, Nakajima K, Fujimori-Tonou N, Kasahara T, Tsuboi T, Kato T. Possible role of mosaic mutations of neurodevelopmental disorder-related genes in bipolar disorder: Lessons from Kmt2c chimeric heterozygous knockout mice. Neuroscience Research 2025, 217: 104910. PMID: 40414358, DOI: 10.1016/j.neures.2025.05.005.Peer-Reviewed Original ResearchBipolar disorderSpectrum of bipolar disordersAutism-like phenotypeAutism spectrum disorderAutism-like behaviorsDepression-like episodesKnockout miceMosaic mutationsHeterozygous knockout miceMental disordersSpectrum disorderKleefstra syndromeGenetic architecture of bipolar disorderDisordersSymptomatic spectrumAnxietyExome sequencing analysisGenetic architectureSequence analysisCausative genesMosaic miceGenesSomatic mutationsAutismKMT2CSpatial–Temporal Diversity of Extrachromosomal DNA Shapes Urothelial Carcinoma Evolution and the Tumor Immune Microenvironment
Lv W, Zeng Y, Li C, Liang Y, Tao H, Zhu Y, Sui X, Li Y, Jiang S, Gao Q, Rodriguez-Fos E, Prasad G, Wang Y, Zhou R, Xu Z, Pan X, Chen L, Xiang X, Teng H, Sun C, Qin T, Dong W, Li Y, Lan X, Li X, Lin L, Bolund L, Yang H, Verhaak R, Faltas B, Hansen J, Wu S, Mischel P, Henssen A, Bafna V, Luebeck J, Regenberg B, Luo Y, Lin C, Han P. Spatial–Temporal Diversity of Extrachromosomal DNA Shapes Urothelial Carcinoma Evolution and the Tumor Immune Microenvironment. Cancer Discovery 2025, 15: 1225-1246. PMID: 40062518, PMCID: PMC12130809, DOI: 10.1158/2159-8290.cd-24-1532.Peer-Reviewed Original ResearchUrothelial carcinomaImmune microenvironmentWhole-genome sequencing dataExpression of major histocompatibility complex class I moleculesIncreased intratumoral heterogeneityTumor immune microenvironmentT cell immunityRecurrence of UCSamples of tumorHistocompatibility complex class I moleculesMajor histocompatibility complex class I moleculesSingle-cell RNA sequencing analysisMulti-region samplingRNA sequencing analysisClass I moleculesSequence dataUC tumorsExtrachromosomal DNAImmunosuppressive phenotypeSequence analysisT cellsClonal evolutionMalignant cellsPoor prognosisIntratumoral heterogeneity
2024
Mapping the gene space at single-cell resolution with gene signal pattern analysis
Venkat A, Leone S, Youlten S, Fagerberg E, Attanasio J, Joshi N, Perlmutter M, Krishnaswamy S. Mapping the gene space at single-cell resolution with gene signal pattern analysis. Nature Computational Science 2024, 4: 955-977. PMID: 39706866, DOI: 10.1038/s43588-024-00734-0.Peer-Reviewed Original ResearchConceptsSingle-cell dataGene spaceGene representationSimulated single-cell dataGene co-expression modulesCell-cell graphCharacterization of genesGene-gene interactionsCo-expression modulesCell-cell communicationCellular state spaceSingle-cell resolutionSingle-cell sequencing analysisSequence analysisGenesBiological tasksSpatial transcriptomicsGraph signal processing approachSignal pattern analysisPattern analysisSignal processing approachComputational methodsTranscriptomeCosGeneGate selects multi-functional and credible biomarkers for single-cell analysis
Liu T, Long W, Cao Z, Wang Y, He C, Zhang L, Strittmatter S, Zhao H. CosGeneGate selects multi-functional and credible biomarkers for single-cell analysis. Briefings In Bioinformatics 2024, 26: bbae626. PMID: 39592241, PMCID: PMC11596696, DOI: 10.1093/bib/bbae626.Peer-Reviewed Original ResearchMetastasis of colon cancer requires Dickkopf-2 to generate cancer cells with Paneth cell properties.
Shin J, Park J, Lim J, Jeong J, Dinesh R, Maher S, Kim J, Park S, Hong J, Wysolmerski J, Choi J, Bothwell A. Metastasis of colon cancer requires Dickkopf-2 to generate cancer cells with Paneth cell properties. ELife 2024, 13 PMID: 39535280, PMCID: PMC11560131, DOI: 10.7554/elife.97279.Peer-Reviewed Original ResearchConceptsCancer cellsDickkopf-2Analysis of transcriptomeGeneration of cancer cellsPositive cancer cellsStem cell niche factorsColon cancer cellsPaneth cell differentiationHepatocyte nuclear factor 4 alphaLysozyme positive cellsChromatin accessibilityHNF4A proteinSingle-cell RNA sequencing analysisCell propertiesPaneth cell markersSequence analysisChromatin immunoprecipitationPromoter regionTranscription factorsTranscriptome analysisColon cancerColon cancer metastasisReduction of liver metastasisDownstream targetsCell differentiationMetastasis of colon cancer requires Dickkopf-2 to generate cancer cells with Paneth cell properties
Shin J, Park J, Lim J, Jeong J, Dinesh R, Maher S, Kim J, Park S, Hong J, Wysolmerski J, Choi J, Bothwell A. Metastasis of colon cancer requires Dickkopf-2 to generate cancer cells with Paneth cell properties. ELife 2024, 13 DOI: 10.7554/elife.97279.3.Peer-Reviewed Original ResearchCancer cellsDickkopf-2Promoter region of Sox9Analysis of transcriptomeGeneration of cancer cellsPositive cancer cellsStem cell niche factorsColon cancer cellsPaneth cell differentiationHepatocyte nuclear factor 4 alphaLysozyme positive cellsChromatin accessibilityHNF4A proteinSingle-cell RNA sequencing analysisCell propertiesPaneth cell markersSequence analysisChromatin immunoprecipitationPromoter regionTranscription factorsTranscriptome analysisColon cancerColon cancer metastasisReduction of liver metastasisDownstream targetsAkt is a mediator of artery specification during zebrafish development
Zhou W, Ghersi J, Ristori E, Semanchik N, Prendergast A, Zhang R, Carneiro P, Baldissera G, Sessa W, Nicoli S. Akt is a mediator of artery specification during zebrafish development. Development 2024, 151: dev202727. PMID: 39101673, PMCID: PMC11441982, DOI: 10.1242/dev.202727.Peer-Reviewed Original ResearchArterial specificationEndothelial cellsVascular endothelial growth factor ADorsal aortaEndothelial growth factor ASingle-cell RNA sequencing analysisGrowth factor AArtery endothelial cellsEmbryonic cardiovascular systemConstitutively active Akt1Ligand-independent activationActivation of NotchArteriovenous malformationsCongenital malformationsRNA sequencing analysisVEGF-AProtein kinase BUpstream of NotchSequence analysisCardiovascular developmentSpecific expressionAkt kinaseActive Akt1Zebrafish developmentCardiovascular systemResolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
Zhou B, Purmann C, Guo H, Shin G, Huang Y, Pattni R, Meng Q, Greer S, Roychowdhury T, Wood R, Ho M, Dohna H, Abyzov A, Hallmayer J, Wong W, Ji H, Urban A. Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2322834121. PMID: 39042694, PMCID: PMC11295037, DOI: 10.1073/pnas.2322834121.Peer-Reviewed Original ResearchConceptsLong-read sequencingPulse-field gel electrophoresisBase-pair resolutionDNA methylation patternsCell-type specific analysisCell type-specificChromosomal interactionsSequence assemblySegmental duplicationsGenome sequenceGenomic rearrangementsGenomic regionsChromosomal breakpointsHuman genomeGenomic recombinationMethylation patternsSequence analysisHaplotype-specificDeletion haplotypesGel electrophoresisGenomeAmplification-freeBreakpoint locationsMicrodeletion disorderType-specificIntegrating phylogenies into single-cell RNA sequencing analysis allows comparisons across species, genes, and cells
Church S, Mah J, Dunn C. Integrating phylogenies into single-cell RNA sequencing analysis allows comparisons across species, genes, and cells. PLOS Biology 2024, 22: e3002633. PMID: 38787797, PMCID: PMC11125556, DOI: 10.1371/journal.pbio.3002633.Peer-Reviewed Original ResearchConceptsScRNA-seqPhylogenetic comparative approachCellular gene expressionScRNA-seq analysisSingle-cell RNA sequencingRNA sequencing analysisGene treesSpecies treeCell phylogenyPhylogenetic approachPhylogenetic treeEvolutionary historyPairwise alignmentSingle-cell RNA sequencing analysisSequence analysisCellular lifeRNA sequencingGene expressionGenesCell evolutionCell lineagesPhylogenySpeciesCell functionCellsTrajectories of school refusal: sequence analysis using retrospective parent reports
Benoit L, Chan Sock Peng E, Flouriot J, DiGiovanni M, Bonifas N, Rouquette A, Martin A, Falissard B. Trajectories of school refusal: sequence analysis using retrospective parent reports. European Child & Adolescent Psychiatry 2024, 33: 3849-3859. PMID: 38602549, PMCID: PMC11588807, DOI: 10.1007/s00787-024-02419-5.Peer-Reviewed Original ResearchImplementation of evidence-based interventionsMental health careEvidence-based interventionsAnonymous web-based surveyYears of school attendanceWeb-based surveySchool attendance problemsHealth careEmotional distressSchool weekParent reportProlonged recoveryParents' recollectionsSchool attendancePrototypical trajectoriesSchool refusalRetrospective parental reportsOptimal outcomesAcademic yearChildrenCareSchoolSequence analysisParentsAttendanceTranscriptional programs mediating neuronal toxicity and altered glial-neuronal signaling in a Drosophila knock-in tauopathy model
Bukhari H, Nithianadam V, Battaglia R, Cicalo A, Sarkar S, Comjean A, Hu Y, Leventhal M, Dong X, Feany M. Transcriptional programs mediating neuronal toxicity and altered glial-neuronal signaling in a Drosophila knock-in tauopathy model. Genome Research 2024, 34: gr.278576.123. PMID: 38599684, PMCID: PMC11146598, DOI: 10.1101/gr.278576.123.Peer-Reviewed Original ResearchConceptsGenetic contextNon-cell-autonomous regulationMicrotubule-associated protein tauHuman diseasesGlial-neuronal signalingGene regulatory programsKnock-in fliesTau P301L mutationFrontotemporal dementiaProtein interaction networkModel of tauopathyAge-dependent neurodegenerationSingle-cell RNA sequencingCell signaling pathwaysExperimental model organismAccumulate DNA damageModel of frontotemporal dementiaAutosomal dominant formSingle-cell sequencing analysisPathways of neurotoxicityProtein tauP301L mutationTauopathy modelNeuronal cell typesSequence analysisDedifferentiated early postnatal lung myofibroblasts redifferentiate in adult disease
Chandran R, Adams T, Kabir I, Gallardo-Vara E, Kaminski N, Gomperts B, Greif D. Dedifferentiated early postnatal lung myofibroblasts redifferentiate in adult disease. Frontiers In Cell And Developmental Biology 2024, 12: 1335061. PMID: 38572485, PMCID: PMC10987733, DOI: 10.3389/fcell.2024.1335061.Peer-Reviewed Original ResearchRNA sequencing analysisSMA+ myofibroblastsGene expression profilesLung myofibroblastsAdult lungSequence analysisResponse to lung injurySingle cell RNA sequencing analysisTissue remodeling genesSmooth muscle cell markersLung to hypoxiaExpression profilesRemodeling genesMuscle cell markersResponse to injuryCell typesSMA cellsLineage tracingLung injuryCell markersLineagesGenesAdult diseaseDrug bleomycinLung surface areaWhole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls T, Andersen S, Zmuda J, Thyagarajan B, Yashin A, Wojczynski M, Krinsky‐McHale S, Handen B, Christian B, Head E, Mapstone M, Schupf N, Lee J, Barral S, Study T, Abner E, Adams P, Aguirre A, Albert M, Albin R, Allen M, Alvarez L, Andrews H, Apostolova L, Arnold S, Asthana S, Atwood C, Ayres G, Barber R, Barnes L, Barral S, Bartlett J, Beach T, Becker J, Beecham G, Benchek P, Bennett D, Bertelson J, Biber S, Bird T, Blacker D, Boeve B, Bowen J, Boxer A, Brewer J, Burke J, Burns J, Bush W, Buxbaum J, Byrd G, Cantwell L, Cao C, Carlsson C, Carrasquillo M, Chan K, Chasse S, Chen Y, Chesselet M, Chin N, Chui H, Chung J, Craft S, Crane P, Cranney M, Cruchaga C, Cuccaro M, Culhane J, Cullum C, Darby E, Davis B, De Jager P, DeCarli C, DeToledo J, Dickson D, Dobbins N, Duara R, Ertekin‐Taner N, Evans D, Faber K, Fairchild T, Fallin D, Fallon K, Fardo D, Farlow M, Farrell J, Farrer L, Fernandez‐Hernandez V, Foroud T, Frosch M, Galasko D, Gamboa A, Gauthreaux K, Gefen T, Geschwind D, Ghetti B, Gilbert J, Goate A, Grabowski T, Graff‐Radford N, Griswold A, Haines J, Hakonarson H, Hall K, Hall J, Hamilton R, Hamilton‐Nelson K, Han X, Harari O, Hardy J, Harrell L, Head E, Henderson V, Hernandez M, Honig L, Huebinger R, Huentelman M, Hulette C, Hyman B, Hynan L, Ibanez L, Jarvik G, Jayadev S, Jin L, Johnson K, Johnson L, Jones B, Jun G, Kamboh M, Kang M, Karydas A, Katz M, Kauwe J, Kaye J, Keene C, Keller B, Khaleeq A, Kim R, Knebl J, Kowall N, Kramer J, Kukull W, Kunkle B, Kuzma A, LaFerla F, Lah J, Larson E, Lerch M, Lerner A, Leung Y, Leverenz J, Levey A, Lieberman A, Lipton R, Lopez O, Lunetta K, Lyketsos C, Mains D, Manly J, Mark L, Marquez D, Marson D, Martin E, Masliah E, Massman P, Masurkar A, Mayeux R, McCormick W, McCurry S, McDonough S, McKee A, Mesulam M, Mez J, Miller B, Miller C, Mock C, Moghekar A, Montine T, Monuki E, Mooney S, Morris J, Mukherjee S, Myers A, Naj A, Nguyen T, Noble J, Nudelman K, O'Bryant S, Ormsby K, Ory M, Palmer R, Parisi J, Paulson H, Pavlik V, Paydarfar D, Perez V, Pericak‐Vance M, Petersen R, Polk M, Qu L, Quiceno M, Quinn J, Raj A, Rajabli F, Ramanan V, Reiman E, Reisch J, Reitz C, Ringman J, Roberson E, Rodriguear M, Rogaeva E, Rosen H, Rosenberg R, Royall D, Sano M, Saykin A, Schellenberg G, Schneider J, Schneider L, Seeley W, Sherva R, Shibata D, Small S, Smith A, Smith J, Song Y, Spina S, St George‐Hyslop P, Stern R, Stevens A, Strittmatter S, Sultzer D, Swerdlow R, Teich A, Tilson J, Tosto G, Trojanowski J, Troncoso J, Tsuang D, Valladares O, Van Deerlin V, Van Dyck C, Van Eldik L, Vance J, Vardarajan B, Vassar R, Vinters H, Wang L, Weintraub S, Welsh‐Bohmer K, Wheeler N, Wijsman E, Wilhelmsen K, Williams B, Williamson J, Wilms H, Wingo T, Wisniewski T, Woltjer R, Woon M, Younkin S, Yu L, Zhao Y, Zhou X, Zhu C, Aizenstein H, Ances B, Andrews H, Bell K, Birn R, Brickman A, Bulova P, Cheema A, Chen K, Christian B, Clare I, Cohen A, Constantino J, Doran E, Fagan A, Feingold E, Foroud T, Handen B, Harp J, Hartley S, Head E, Henson R, Hom C, Honig L, Ikonomovic M, Johnson S, Jordan C, Kamboh M, Keator D, Klunk W, Kofler J, Krinsky‐McHale S, Lai F, Lao P, Laymon C, Lee J, Lott I, Lupson V, Mapstone M, Mathis C, Minhas D, Nadkarni N, O'Bryant S, Parisi M, Pang D, Petersen M, Price J, Pulsifer M, Rafii M, Reiman E, Rizvi B, Rosas H, Ryan L, Schmitt F, Schupf N, Silverman W, Tudorascu D, Tumuluru R, Varadarajan B, White D, Yassa M, Zaman S, Zhang F. Whole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease. Alzheimer's & Dementia 2024, 20: 2670-2679. PMID: 38380866, PMCID: PMC11032545, DOI: 10.1002/alz.13718.Peer-Reviewed Original ResearchConceptsLate-onset Alzheimer's diseaseGenes associated with late-onset Alzheimer's diseaseLate-onset Alzheimer's disease riskSeveral single nucleotide polymorphismsVariants associated with late-onset Alzheimer diseaseBeta-amyloidIdentified several single nucleotide polymorphismsWhole-genome sequence analysisGenome sequence analysisLevels of beta-amyloidAlzheimer's diseaseTight linkage disequilibriumMicrotubule associated proteinSingle nucleotide polymorphismsFamily studiesCandidate lociMTUS2Linkage disequilibriumSequence analysisAssociation analysisNucleotide polymorphismsGenetic associationAlzheimer's dementiaAssociated proteinGenetic component
2022
Identification and characterization of novel lineage 1 Powassan virus strains in New York State
Lange R, Dupuis A, Prusinski M, Maffei J, Koetzner C, Ngo K, Backenson B, Oliver J, Vogels C, Grubaugh N, Kramer L, Ciota A. Identification and characterization of novel lineage 1 Powassan virus strains in New York State. Emerging Microbes & Infections 2022, 12: 2155585. PMID: 36503411, PMCID: PMC9788702, DOI: 10.1080/22221751.2022.2155585.Peer-Reviewed Original ResearchPrevalence of Pathogenic Germline Mutations in Solid Tumor Predisposition Genes Detected By Tumor-Normal Whole Exome Sequencing Analysis Among Adults with Hematologic Malignancies
Al-Kateb H, Jun T, Hayes J, Rossi M, Hantash F, Oh W, Onel K. Prevalence of Pathogenic Germline Mutations in Solid Tumor Predisposition Genes Detected By Tumor-Normal Whole Exome Sequencing Analysis Among Adults with Hematologic Malignancies. Blood 2022, 140: 7852-7853. DOI: 10.1182/blood-2022-159618.Peer-Reviewed Original ResearchFunctional Analysis of MET Exon 14 Skipping Alteration in Cancer Invasion and Metastatic DisseminationMET Exon 14 Skipping Alteration Promotes Metastasis
Wang F, Liu Y, Qiu W, Shum E, Feng M, Zhao D, Zheng D, Borczuk A, Cheng H, Halmos B. Functional Analysis of MET Exon 14 Skipping Alteration in Cancer Invasion and Metastatic DisseminationMET Exon 14 Skipping Alteration Promotes Metastasis. Cancer Research 2022, 82: 1365-1379. PMID: 35078819, DOI: 10.1158/0008-5472.can-21-1327.Peer-Reviewed Original ResearchConceptsNon-small cell lung cancerMetastasis in vivoLung cancerInvasive capacity in vitroExtracellular matrix disassemblyReceptor kinase activityTumor progression of non-small cell lung cancerRNA sequencing analysisImpaired receptor internalizationTreatment of lung cancerMetastasis-related pathwaysCell lung cancerMolecular mechanisms of actionCytoskeleton remodelingEndocytic degradationSequence analysisCell scatteringEffective treatment of lung cancerPotential therapeutic optionCRISPR editingCell movementKinase activityMechanistic functionProgression of non-small cell lung cancerMatrix disassembly
2021
RSK1 SUMOylation is required for KSHV lytic replication
Liu Z, Liu C, Wang X, Li W, Zhou J, Dong P, Xiao M, Wang C, Zhang Y, Fu J, Zhu F, Liang Q. RSK1 SUMOylation is required for KSHV lytic replication. PLOS Pathogens 2021, 17: e1010123. PMID: 34871326, PMCID: PMC8675914, DOI: 10.1371/journal.ppat.1010123.Peer-Reviewed Original ResearchConceptsSUMO-interacting motifKSHV lytic replicationKaposi's sarcoma-associated herpesvirusSarcoma-associated herpesvirusEfficient KSHV lytic replicationLytic replicationDownstream substrate phosphorylationAmino acid position 166SUMO-SIM interactionsOverall phosphorylation levelMultiple cellular processesPost-translational modificationsKSHV ORF45Substrate phosphorylationSUMO modificationCellular processesDownstream substratesRSK1 activationDownstream kinasesMAPK pathwaySequence analysisRSK1SUMOylationPhosphorylation levelsPosition 166Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights into Cardiovascular Disease
Katz D, Tahir U, Bick A, Pampana A, Ngo D, Benson M, Yu Z, Robbins J, Chen Z, Cruz D, Deng S, Farrell L, Sinha S, Schmaier A, Shen D, Gao Y, Hall M, Correa A, Tracy R, Durda P, Taylor K, Liu Y, Johnson W, Guo X, Yao J, Ida Chen Y, Manichaikul A, Jain D, Bouchard C, Sarzynski M, Rich S, Rotter J, Wang T, Wilson J, Natarajan P, Gerszten R, Abe N, Abecasis G, Aguet F, Albert C, Almasy L, Alonso A, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Ardlie K, Arking D, Arnett D, Ashley-Koch A, Aslibekyan S, Assimes T, Auer P, Avramopoulos D, Ayas N, Balasubramanian A, Barnard J, Barnes K, Barr R, Barron-Casella E, Barwick L, Beaty T, Beck G, Becker D, Becker L, Beer R, Beitelshees A, Benjamin E, Benos T, Bezerra M, Bielak L, Bis J, Blackwell T, Blangero J, Boerwinkle E, Bowden D, Bowler R, Brody J, Broeckel U, Broome J, Brown D, Bunting K, Burchard E, Bustamante C, Buth E, Cade B, Cardwell J, Carey V, Carrier J, Carson A, Carty C, Casaburi R, Casas Romero J, Casella J, Castaldi P, Chaffin M, Chang C, Chang Y, Chasman D, Chavan S, Chen B, Chen W, Chen Y, Cho M, Choi S, Chuang L, Chung M, Chung R, Clish C, Comhair S, Conomos M, Cornell E, Correa A, Crandall C, Crapo J, Cupples L, Curran J, Curtis J, Custer B, Damcott C, Darbar D, David S, Davis C, Daya M, de Andrade M, de las Fuentes L, de Vries P, DeBaun M, Deka R, DeMeo D, Devine S, Dinh H, Doddapaneni H, Duan Q, Dugan-Perez S, Duggirala R, Durda J, Dutcher S, Eaton C, Ekunwe L, El Boueiz A, Ellinor P, Emery L, Erzurum S, Farber C, Farek J, Fingerlin T, Flickinger M, Fornage M, Franceschini N, Frazar C, Fu M, Fullerton S, Fulton L, Gabriel S, Gan W, Gao S, Gao Y, Gass M, Geiger H, Gelb B, Geraci M, Germer S, Gerszten R, Ghosh A, Gibbs R, Gignoux C, Gladwin M, Glahn D, Gogarten S, Gong D, Goring H, Graw S, Gray K, Grine D, Gross C, Gu C, Guan Y, Guo X, Gupta N, Haas D, Haessler J, Hall M, Han Y, Hanly P, Harris D, Hawley N, He J, Heavner B, Heckbert S, Hernandez R, Herrington D, Hersh C, Hidalgo B, Hixson J, Hobbs B, Hokanson J, Hong E, Hoth K, Hsiung C, Hu J, Hung Y, Huston H, Hwu C, Irvin M, Jackson R, Jain D, Jaquish C, Johnsen J, Johnson A, Johnson C, Johnston R, Jones K, Kang H, Kaplan R, Kardia S, Kelly S, Kenny E, Kessler M, Khan A, Khan Z, Kim W, Kimoff J, Kinney G, Konkle B, Kooperberg C, Kramer H, Lange C, Lange E, Lange L, Laurie C, Laurie C, LeBoff M, Lee J, Lee S, Lee W, LeFaive J, Levine D, Levy D, Lewis J, Li X, Li Y, Lin H, Lin H, Lin X, Liu S, Liu Y, Liu Y, Loos R, Lubitz S, Lunetta K, Luo J, Magalang U, Mahaney M, Make B, Manichaikul A, Manning A, Manson J, Martin L, Marton M, Mathai S, Mathias R, May S, McArdle P, McDonald M, McFarland S, McGarvey S, McGoldrick D, McHugh C, McNeil B, Mei H, Meigs J, Menon V, Mestroni L, Metcalf G, Meyers D, Mignot E, Mikulla J, Min N, Minear M, Minster R, Mitchell B, Moll M, Momin Z, Montasser M, Montgomery C, Muzny D, Mychaleckyj J, Nadkarni G, Naik R, Naseri T, Natarajan P, Nekhai S, Nelson S, Neltner B, Nessner C, Nickerson D, Nkechinyere O, North K, O’Connell J, O’Connor T, Ochs-Balcom H, Okwuonu G, Pack A, Paik D, Palmer N, Pankow J, Papanicolaou G, Parker C, Peloso G, Peralta J, Perez M, Perry J, Peters U, Peyser P, Phillips L, Pleiness J, Pollin T, Post W, Powers Becker J, Preethi Boorgula M, Preuss M, Psaty B, Qasba P, Qiao D, Qin Z, Rafaels N, Raffield L, Rajendran M, Ramachandran V, Rao D, Rasmussen-Torvik L, Ratan A, Redline S, Reed R, Reeves C, Regan E, Reiner A, Reupena M, Rice K, Rich S, Robillard R, Robine N, Roden D, Roselli C, Rotter J, Ruczinski I, Runnels A, Russell P, Ruuska S, Ryan K, Sabino E, Saleheen D, Salimi S, Salvi S, Salzberg S, Sandow K, Sankaran V, Santibanez J, Schwander K, Schwartz D, Sciurba F, Seidman C, Seidman J, Sériès F, Sheehan V, Sherman S, Shetty A, Shetty A, Sheu W, Shoemaker M, Silver B, Silverman E, Skomro R, Smith A, Smith J, Smith J, Smith N, Smith T, Smoller S, Snively B, Snyder M, Sofer T, Sotoodehnia N, Stilp A, Storm G, Streeten E, Su J, Sung Y, Sylvia J, Szpiro A, Taliun D, Tang H, Taub M, Taylor K, Taylor M, Taylor S, Telen M, Thornton T, Threlkeld M, Tinker L, Tirschwell D, Tishkoff S, Tiwari H, Tong C, Tracy R, Tsai M, Vaidya D, Van Den Berg D, VandeHaar P, Vrieze S, Walker T, Wallace R, Walts A, Wang F, Wang H, Wang J, Watson K, Watt J, Weeks D, Weinstock J, Weir B, Weiss S, Weng L, Wessel J, Willer C, Williams K, Williams L, Wilson C, Wilson J, Winterkorn L, Wong Q, Wu J, Xu H, Yanek L, Yang I, Yu K, Zekavat S, Zhang Y, Zhao S, Zhao W, Zhu X, Zody M, Zoellner S. Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights into Cardiovascular Disease. Circulation 2021, 145: 357-370. PMID: 34814699, PMCID: PMC9158509, DOI: 10.1161/circulationaha.121.055117.Peer-Reviewed Original ResearchConceptsWhole genome sequence analysisGenome sequence analysisWhole genome sequencing association analysisPlasma proteomeSequence analysisNovel pleiotropic lociNovel genetic determinantsNew protein associationsNew biological mechanismsGenetic architectureNon-European populationsPleiotropic lociGenotyping arraysProtein associationProteomic profilingGene locusGenetic regionsProteomics platformFunctional importanceAssociation analysisProteomeAfrican ancestryGenetic determinantsNovel insightsProteinMolecular Evolution of CatSper in Mammals and Function of Sperm Hyperactivation in Gray Short-Tailed Opossum
Hwang JY, Maziarz J, Wagner GP, Chung JJ. Molecular Evolution of CatSper in Mammals and Function of Sperm Hyperactivation in Gray Short-Tailed Opossum. Cells 2021, 10: 1047. PMID: 33946695, PMCID: PMC8147001, DOI: 10.3390/cells10051047.Peer-Reviewed Original ResearchConceptsMolecular evolutionHigh sequence divergenceSperm-specific ion channelIQ-like motifSequence divergenceCatSper activityCatSper subunitsMolecular regulationFertilization environmentSperm hyperactivationCatSper proteinsAmerican marsupialsCatSper functionSequence analysisMarsupialsFemale reproductive tractGray Short-Tailed OpossumsEutheriansSperm flagellaCatSper channelsIon channelsCatSperCurrent understandingOpossumSperm
2020
Differences in self-association between kindlin-2 and kindlin-3 are associated with differential integrin binding
Kadry YA, Maisuria EM, Huet-Calderwood C, Calderwood DA. Differences in self-association between kindlin-2 and kindlin-3 are associated with differential integrin binding. Journal Of Biological Chemistry 2020, 295: 11161-11173. PMID: 32546480, PMCID: PMC7415974, DOI: 10.1074/jbc.ra120.013618.Peer-Reviewed Original ResearchConceptsKindlin-3Kindlin-2Focal adhesionsIntegrin cytoplasmic domainTransmembrane adhesion receptorsComparative sequence analysisLive-cell imagingAbility of cellsCytoplasmic domainF3 subdomainsMammalian cellsCytoplasmic componentsExtracellular environmentAdhesion receptorsKindlinSequence analysisIntegrin familySelf-associationIntegrin bindingPhysiological importanceMolecular levelPoint mutationsProteinCellsAdhesion
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