2023
Human-specific features and developmental dynamics of the brain N-glycome
Klarić T, Gudelj I, Santpere G, Novokmet M, Vučković F, Ma S, Doll H, Risgaard R, Bathla S, Karger A, Nairn A, Luria V, Bečeheli I, Sherwood C, Ely J, Hof P, Sousa A, Josić D, Lauc G, Sestan N. Human-specific features and developmental dynamics of the brain N-glycome. Science Advances 2023, 9: eadg2615. PMID: 38055821, PMCID: PMC10699788, DOI: 10.1126/sciadv.adg2615.Peer-Reviewed Original ResearchMolecular and cellular mechanisms of human cortical connectivity
Luria V, Ma S, Shibata M, Pattabiraman K, Sestan N. Molecular and cellular mechanisms of human cortical connectivity. Current Opinion In Neurobiology 2023, 80: 102699. PMID: 36921362, DOI: 10.1016/j.conb.2023.102699.Peer-Reviewed Original Research
2021
Phylogenomic analyses of the genus Drosophila reveals genomic signals of climate adaptation
Li F, Rane R, Luria V, Xiong Z, Chen J, Li Z, Catullo R, Griffin P, Schiffer M, Pearce S, Lee S, McElroy K, Stocker A, Shirriffs J, Cockerell F, Coppin C, Sgrò C, Karger A, Cain J, Weber J, Santpere G, Kirschner M, Hoffmann A, Oakeshott J, Zhang G. Phylogenomic analyses of the genus Drosophila reveals genomic signals of climate adaptation. Molecular Ecology Resources 2021, 22: 1559-1581. PMID: 34839580, PMCID: PMC9299920, DOI: 10.1111/1755-0998.13561.Peer-Reviewed Original ResearchConceptsClimate generalistsDrosophila speciesGenus DrosophilaPhylogenomic analysisSignificant phylogenetic incongruenceEvolutionary genomic studiesMelanogaster species groupGenome-wide signalsDifferent climatic nichesHigh-quality assemblySmall population sizeIncomplete lineageSubgenus DrosophilaAsymmetric introgressionSubgenus SophophoraPhylogenetic incongruenceNew transcriptomesGene gainClimatic nicheGenome diversityNatural populationsWidespread speciesGenomic signalsSpecies groupsClimate nicheNoncanonical open reading frames encode functional proteins essential for cancer cell survival
Prensner J, Enache O, Luria V, Krug K, Clauser K, Dempster J, Karger A, Wang L, Stumbraite K, Wang V, Botta G, Lyons N, Goodale A, Kalani Z, Fritchman B, Brown A, Alan D, Green T, Yang X, Jaffe J, Roth J, Piccioni F, Kirschner M, Ji Z, Root D, Golub T. Noncanonical open reading frames encode functional proteins essential for cancer cell survival. Nature Biotechnology 2021, 39: 697-704. PMID: 33510483, PMCID: PMC8195866, DOI: 10.1038/s41587-020-00806-2.Peer-Reviewed Original ResearchConceptsCancer cell linesOpen reading framePotential therapeutic targetCell linesGrowth inhibitory effectsCancer cell survivalInduced gene expression changesBreast cancerTherapeutic targetHuman cancer cell linesReading frameProtein expressionActive proteinProtein 1Gene expression changesCell survivalBiological effectsExpression changesViability defectsHuman genomeGenomic analysisCodon mutagenesisEctopic expressionFunctional proteinsKnockout
2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
O’Donnell-Luria A, Pais L, Faundes V, Wood J, Sveden A, Luria V, Jamra R, Accogli A, Amburgey K, Anderlid B, Azzarello-Burri S, Basinger A, Bianchini C, Bird L, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Study D, McRae J, Clayton S, Fitzgerald T, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett D, Bayzetinova T, Jones P, Jones W, King D, Krishnappa N, Mason L, Singh T, Tivey A, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan A, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan D, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson M, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D’Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar V, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch S, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan D, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Newbury-Ecob R, Norman A, O’Shea R, Ogilvie C, Ong K, Park S, Parker M, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz D, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Price S, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan G, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple I, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellåker C, Parker M, Firth H, Wright C, FitzPatrick D, Barrett J, Hurles M, Demurger F, Dowling J, Duban-Bedu B, Dubourg C, Eiset S, Escobar L, Ferrarini A, Haack T, Hashim M, Heide S, Helbig K, Helbig I, Heredia R, Héron D, Isidor B, Jonasson A, Joset P, Keren B, Kok F, Kroes H, Lavillaureix A, Lu X, Maas S, Maegawa G, Marcelis C, Mark P, Masruha M, McLaughlin H, McWalter K, Melchinger E, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli G, Ramos L, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor J, Telegrafi A, Thiffault I, Trauner D, van der Linden H, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber Y, Wentzensen I, Widjaja E, Zak J, Baxter S, Banka S, Rodan L. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal Of Human Genetics 2019, 104: 1210-1222. PMID: 31079897, PMCID: PMC6556837, DOI: 10.1016/j.ajhg.2019.03.021.Peer-Reviewed Original ResearchConceptsMissense variantsTruncating variantsHeterozygous variantsDevelopmental delayFunctional gastrointestinal abnormalitiesAnti-epileptic medicationsNeurodevelopmental disordersInfantile epileptic encephalopathySevere developmental delayEpileptic encephalopathyGastrointestinal abnormalitiesNeurodevelopmental abnormalitiesEpilepsyProtein-truncating variantsMild intellectual disabilityFacial gestalt
2010
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou A, Barres B, Christiano A. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature 2010, 464: 1043-1047. PMID: 20393562, PMCID: PMC3046868, DOI: 10.1038/nature08875.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBeta CateninCell DifferentiationCell LineCell ProliferationChick EmbryoChromosome MappingChromosomes, Human, Pair 18Genes, DominantGenes, ReporterHairHair FollicleHumansHypotrichosisIntracellular Signaling Peptides and ProteinsMembrane GlycoproteinsMembrane ProteinsMiceMutant ProteinsNeuronsPoint MutationScalpSignal TransductionSkinSpinal CordStem CellsWnt ProteinsXenopus laevisXenopus ProteinsConceptsHereditary hypotrichosis simplexSignal transduction pathwaysHypotrichosis simplexMesenchymal cell compartmentGenetic linkage analysisNovel Wnt inhibitorsMembrane-bound glycoproteinTransduction pathwaysHuman hair folliclesLinkage analysisAPCDD1Functional studiesHair folliclesWnt inhibitorsCell compartmentDowny hairsGenesImportant componentThick hairPathwayHairGlycoproteinCompartmentsDegenerative processFamily