2021
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
D’Antonio M, Nguyen J, Arthur T, Matsui H, Neale B, Daly M, Ganna A, Stevens C, Pathak G, Andrews S, Kanai M, Cordioli M, Ganna A, Karjalainen J, Pathak G, Polimanti R, Andrews S, Cordioli M, Pirinen M, Kanai M, Harerimana N, Veerapen K, Wolford B, Nguyen H, Solomonson M, Stevens C, Liao R, Chwialkowska K, Trankiem A, Balaconis M, Hayward C, Richmond A, Campbell A, Morris M, Fawns-Ritchie C, Glessner J, Shaw D, Chang X, Polikowski H, Lauren E, Chen H, Wanying Z, Hakonarson H, Porteous D, Below J, North K, McCormick J, Timmers P, Wilson J, Tenesa A, D’Mellow K, Kerr S, Niemi M, Cordioli M, Nkambul L, von Hohenstaufen K, Sobh A, Eltoukhy M, Yassen A, Hegazy M, Okasha K, Eid M, Moahmed H, Shahin D, El-Sherbiny Y, Elhadidy T, Elghafar M, El-Jawhari J, Mohamed A, Elnagdy M, Samir A, Abdel-Aziz M, Khafaga W, El-Lawaty W, Torky M, El-shanshory M, Batini C, Lee P, Shrine N, Williams A, Tobin M, Guyatt A, John C, Packer R, Ali A, Free R, Wang X, Wain L, Hollox E, Venn L, Bee C, Adams E, Niemi M, Niavarani A, Cordioli M, Nkambul L, Sharififard B, Aliannejad R, Amirsavadkouhi A, Naderpour Z, Tadi H, Aleagha A, Ahmadi S, Moghaddam S, Adamsara A, Saeedi M, Abdollahi H, Hosseini A, Chariyavilaskul P, Chamnanphon M, Suttichet T, Shotelersuk V, Pongpanich M, Phokaew C, Chetruengchai W, Jantarabenjakul W, Putchareon O, Torvorapanit P, Puthanakit T, Suchartlikitwong P, Hirankarn N, Nilaratanakul V, Sodsai P, Brumpton B, Hveem K, Willer C, Wolford B, Zhou W, Rogne T, Solligard E, Åsvold B, Abedalthagafi M, Alaamery M, Alqahtani S, Baraka D, Al Harthi F, Alsolm E, Abu Safieh L, Alowayn A, Alqubaishi F, Al Mutairi A, Mangul S, Alshareef A, Sawaji M, Almutairi M, Aljawini N, Albesher N, Arabi Y, Mahmoud E, Khattab A, Halawani R, Alahmadey Z, Albakri J, Felemban W, Suliman B, Hasanato R, Al-Awdah L, Alghamdi J, AlZahrani D, AlJohani S, Al-Afghani H, Alrashed M, AlDhawi N, AlBardis H, Alkwai S, Alswailm M, Almalki F, Albeladi M, Almohammed I, Barhoush E, Albader A, Massadeh S, AlMalik A, 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SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues. Cell Reports 2021, 37: 110020. PMID: 34762851, PMCID: PMC8563343, DOI: 10.1016/j.celrep.2021.110020.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingComputational BiologyCOVID-19Databases, GeneticEthnicityGene ExpressionGene Expression ProfilingGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansOrgan SpecificityPolymorphism, Single NucleotideQuantitative Trait LociSARS-CoV-2Severity of Illness IndexTranscriptomeConceptsExpression quantitative trait lociGenome-wide association study signalsTissue/cell typesQuantitative trait lociGenetic fine mappingGene expression levelsLoci colocalizeGenomic lociGWAS lociTrait lociFine mappingVariety of tissuesCausal SNPsGene expressionSNP setsStudy signalsLociCell typesSARS-CoV-2 susceptibilityGenetic variantsSuggestive associationExpression levelsTissue typesSNPsCredible sets
2015
Origin of fibrosing cells in systemic sclerosis
Ebmeier S, Horsley V. Origin of fibrosing cells in systemic sclerosis. Current Opinion In Rheumatology 2015, 27: 555-562. PMID: 26352735, PMCID: PMC4639394, DOI: 10.1097/bor.0000000000000217.Peer-Reviewed Original ResearchConceptsSystemic sclerosisEndothelial cellsInjury-induced fibrosisEpithelial cellsProgressive fibrosisAutoimmune diseasesTreatment optionsEffective therapyInjury modelFibrosis modelChronic natureAnimal modelsTissue stromaSclerosisCell originFibrosisUnknown originVariety of tissuesCellular originRecent evidenceFibrocytesDiseasePericytesSpecific organsAdipocytes
2006
Receptor Protein Tyrosine Phosphatase γ Is a Marker for Pyramidal Cells and Sensory Neurons in the Nervous System and Is Not Necessary for Normal Development
Lamprianou S, Vacaresse N, Suzuki Y, Meziane H, Buxbaum JD, Schlessinger J, Harroch S. Receptor Protein Tyrosine Phosphatase γ Is a Marker for Pyramidal Cells and Sensory Neurons in the Nervous System and Is Not Necessary for Normal Development. Molecular And Cellular Biology 2006, 26: 5106-5119. PMID: 16782895, PMCID: PMC1489161, DOI: 10.1128/mcb.00101-06.Peer-Reviewed Original ResearchConceptsReceptor protein tyrosine phosphatase gammaProtein tyrosine phosphatase gammaPotential biological functionsObvious phenotypeBeta-galactosidase geneRPTPgammaVariety of tissuesBiological functionsMouse embryosBiological roleSensory neuronsLack of expressionNormal developmentSensory organsCortical layers IIExpressionGlial cellsPyramidal neuronsAdult brainStratum pyramidalePyramidal cellsLow expressionPotential rolePrimary culturesLayers II
2005
Biochemical characterization of the native Kv2.1 potassium channel
Chung J, Li M. Biochemical characterization of the native Kv2.1 potassium channel. The FEBS Journal 2005, 272: 3743-3755. PMID: 16008572, DOI: 10.1111/j.1742-4658.2005.04802.x.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsCell LineChromatography, AffinityChromatography, GelHumansMolecular Sequence DataPotassium Channels, Voltage-GatedProsencephalonProtein BindingProteomicsRatsRats, Sprague-DawleyShab Potassium ChannelsSolubilitySpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationConceptsBiochemical characterizationChannel complexLarge macromolecular complexesPotassium channelsPore-forming subunitRecombinant cell linesEukaryotic cellsPore complexFunctional diversityPosttranslational regulationKv2.2 subunitsSubunit assemblyVariety of tissuesMacromolecular complexesKv2.1 potassium channelOligomeric sizeNative polypeptideExpression cloningNative rat brainPhysiological relevanceRectifier potassium channelGel filtration chromatographySubunitsMRNA distributionModulatory subunit
2001
Cloning, expression and characterization of a novel human REPS1 gene1The nucleotide sequence reported in this paper has been submitted to GenBank under accession number AF251052.1
Xu J, Zhou Z, Zeng L, Huang Y, Zhao W, Cheng C, Xu M, Xie Y, Mao Y. Cloning, expression and characterization of a novel human REPS1 gene1The nucleotide sequence reported in this paper has been submitted to GenBank under accession number AF251052.1. Biochimica Et Biophysica Acta 2001, 1522: 118-121. PMID: 11750063, DOI: 10.1016/s0167-4781(01)00310-4.Peer-Reviewed Original ResearchConceptsHuman fetal brain libraryFetal brain libraryAmino acid identitySignal transduction pathwaysDownstream target proteinsNorthern blot analysisProtein familySmall GTPaseBinding partnerAcid identityTransduction pathwaysNucleotide sequenceVariety of tissuesBrain libraryTarget proteinsReps1Blot analysisProteinRalBP1Recent findingsStrong expressionExpressionRalGTPaseImportant role
2000
Direct interaction of the 170 kDa isoform of synaptojanin 1 with clathrin and with the clathrin adaptor AP-2
Haffner C, Di Paolo G, Rosenthal J, De Camilli P. Direct interaction of the 170 kDa isoform of synaptojanin 1 with clathrin and with the clathrin adaptor AP-2. Current Biology 2000, 10: 471-474. PMID: 10801423, DOI: 10.1016/s0960-9822(00)00446-2.Peer-Reviewed Original ResearchConceptsClathrin adaptor AP-2Adaptor AP-2AP-2Synaptojanin 1Unique carboxy-terminal regionClathrin coat dynamicsAlpha-adaptin subunitCarboxy-terminal domainCarboxy-terminal extensionAmino-terminal domainSynaptic vesicle recyclingCarboxy-terminal regionBinding of clathrinReceptor-mediated endocytosisChinese hamster ovary cellsActin functionPolyphosphoinositide phosphataseEar domainClathrin coatHamster ovary cellsVesicle recyclingVariety of tissuesTransferrin uptakePleiotropic rolesClathrin
1993
Distinct Functions of SR Proteins in Alternative pre-mRNA Splicing
Zahler A, Neugebauer K, Lane W, Roth M. Distinct Functions of SR Proteins in Alternative pre-mRNA Splicing. Science 1993, 260: 219-222. PMID: 8385799, DOI: 10.1126/science.8385799.Peer-Reviewed Original ResearchConceptsSR proteinsAlternative splicingDistinct functionsAlternative pre-mRNA splicingPrecursor messenger RNAMRNA splicing factorsPre-mRNA splicingSR familySplicing factorsMRNA splicingVariety of tissuesGene expressionSplicingMessenger RNAProteinCommon mechanismFundamental roleFamilyRNARegulationExpressionEntire familyFunctionMembers
1984
A fluorometric assay for angiotensin-converting enzyme activity
Kapiloff M, Strittmatter S, Fricker L, Snyder S. A fluorometric assay for angiotensin-converting enzyme activity. Analytical Biochemistry 1984, 140: 293-302. PMID: 6091493, DOI: 10.1016/0003-2697(84)90167-2.Peer-Reviewed Original Research
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