2025
Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families
Büyükgöl F, Gürdamar B, Aluçlu M, Beckmann Y, Bilguvar K, Boz C, Bülbül A, Bünül S, Çetin Ö, Demir C, Demir S, Duman T, Efendi H, Ekmekçi Ö, Ertetik U, Ethemoğlu Ö, Everest E, Gümüş H, Gündüz T, Karabudak R, Karaman B, Kürtüncü M, Mutluer M, Reda M, Saip S, Seferoğlu M, Sever E, Sezerman O, Şen S, Taşdelen B, Tecellioğlu M, Terzi M, Tuncer A, Turan Ö, Tütüncü M, Uncu G, Uygunoğlu U, Uzunköprü C, Voyvoda U, Yetkin M, Yüceyar N, Siva A, Turanlı E. Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. Scientific Reports 2025, 15: 11682. PMID: 40188234, PMCID: PMC11972333, DOI: 10.1038/s41598-025-94691-x.Peer-Reviewed Original ResearchConceptsSegregation analysisExome sequencingGene-based burden testsGene-based burden analysisRare Coding VariantsVariants associated with MSWhole-exome sequencingPathway enrichment analysisMultiplex MS familiesHuman leukocyte antigen lociContribution of low-frequencyAdmixed populationsBurden testsHemidesmosome assemblyMultiple sclerosis susceptibilityAllele frequenciesAntigen lociEnrichment analysisBurden analysisMS familiesGenesTurkish familyExtracellular matrixProgressive neurodegenerationITPR1 gene
2023
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases
Lake N, Phua J, Liu W, Moors T, Axon S, Lek M. Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases. Journal Of Neuromuscular Diseases 2023, 10: 381-387. PMID: 37005889, DOI: 10.3233/jnd-221552.Peer-Reviewed Original Research
2022
Laminin Immunostaining in Biopsies as a Useful Biomarker of Early Invasion in Actinic Cheilitis and Differential Diagnosis Between Actinic Cheilitis and Lip Cancer: New Insights
Vageli D, Doukas P, Zacharouli K, Kakanis V, Strataki M, Zioga A, Skoulakis C, Koukoulis G, Ioannou M. Laminin Immunostaining in Biopsies as a Useful Biomarker of Early Invasion in Actinic Cheilitis and Differential Diagnosis Between Actinic Cheilitis and Lip Cancer: New Insights. Head And Neck Pathology 2022, 17: 331-338. PMID: 36303015, PMCID: PMC10293497, DOI: 10.1007/s12105-022-01504-y.Peer-Reviewed Original ResearchConceptsHigh-grade epithelial dysplasiaActinic cheilitisEpithelial dysplasiaDifferential diagnosisSitu carcinomaBasement membraneEarly invasionLow-grade epithelial dysplasiaLaminin immunostainingLaminin expressionHistopathological differential diagnosisBackgroundSquamous cell carcinomaOral lesionsLip cancerCell carcinomaPrecancerous lesionsParabasal cellsPreclinical studiesNeoplastic invasionOral cavityUseful biomarkerCheilitisPatientsLSCCCarcinomaMolecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants
Mosallaei D, Hao M, Antaya RJ, Levian B, Kwong A, Cogan J, Hamilton C, Schwieger-Briel A, Tan C, Tang X, Woodley DT, Chen M. Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants. JAMA Dermatology 2022, 158: 366-374. PMID: 35234826, PMCID: PMC8892363, DOI: 10.1001/jamadermatol.2021.5992.Peer-Reviewed Original ResearchConceptsNonrandomized clinical trialIntravenous gentamicinJunctional epidermolysis bullosaNonsense variantDermal-epidermal junctionGentamicin treatmentClinical trialsEpidermolysis bullosaPopulation of patientsLaminin-332Low-dose gentamicinTotal activity scoreHome infusion servicesLong-term safetyDisease activityGentamicin therapySecondary outcomesLaminin-332 expressionPediatric patientsPrimary outcomeActivity scoreClinical outcomesAvailable therapiesNephrotoxic effectsOtotoxic effects
2021
Targeting Pyruvate Kinase M2 Phosphorylation Reverses Aggressive Cancer Phenotypes
Apostolidi M, Vathiotis IA, Muthusamy V, Gaule P, Gassaway BM, Rimm DL, Rinehart J. Targeting Pyruvate Kinase M2 Phosphorylation Reverses Aggressive Cancer Phenotypes. Cancer Research 2021, 81: 4346-4359. PMID: 34185676, PMCID: PMC8373815, DOI: 10.1158/0008-5472.can-20-4190.Peer-Reviewed Original ResearchMeSH KeywordsActive Transport, Cell NucleusAnimalsBiomarkers, TumorCarrier ProteinsCell Line, TumorCollagenCyclic N-OxidesDrug CombinationsGenome, HumanHumansIndolizinesLamininMCF-7 CellsMembrane ProteinsMiceNeoplasm InvasivenessNeoplasm TransplantationNeoplasmsOxidation-ReductionPhenotypePhosphorylationProtein IsoformsProteoglycansProteomicsPyridazinesPyridinium CompoundsPyrrolesPyruvate KinaseThyroid HormonesTriple Negative Breast NeoplasmsConceptsTriple-negative breast cancerPyruvate kinase M2TEPP-46Breast cancerAggressive breast cancer cell phenotypesCharacteristic nuclear staining patternAggressive breast cancer subtypeAggressive breast cancer phenotypeBreast cancer cell phenotypeCDK inhibitor dinaciclibCombination of dinaciclibLack of biomarkersEffective therapeutic approachBreast cancer phenotypeBreast cancer subtypesCancer phenotypePhosphorylation of PKM2Cyclin-dependent kinase (CDK) pathwayMouse xenograft modelAggressive cancer phenotypeNuclear staining patternLower survival rateImpaired redox balancePrognostic valueCancer cell phenotype
2018
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrology Dialysis Transplantation 2018, 34: 485-493. PMID: 29534211, PMCID: PMC6399483, DOI: 10.1093/ndt/gfy028.Peer-Reviewed Original ResearchConceptsSteroid-resistant NSNephrotic syndromeDevelopment of NSMonogenic causesChronic kidney diseaseChildhood-onset casesPediatric nephrotic syndromeWhole-exome sequencingGenetic variantsGlomerular basement membranePediatric NSSRNS genesImmunosuppressive therapyPediatric patientsClinical outcomesKidney diseaseMouse modelFamilial occurrenceUnknown significanceEarly onsetHomozygous variantExome sequencingDiseaseNS phenotypeDisease management
2017
CNS Neurons Deposit Laminin α5 to Stabilize Synapses
Omar MH, Campbell M, Xiao X, Zhong Q, Brunken WJ, Miner JH, Greer CA, Koleske AJ. CNS Neurons Deposit Laminin α5 to Stabilize Synapses. Cell Reports 2017, 21: 1281-1292. PMID: 29091766, PMCID: PMC5776391, DOI: 10.1016/j.celrep.2017.10.028.Peer-Reviewed Original ResearchConceptsDendritic spine head sizeLaminin α5Larger postsynaptic densitiesDendritic spine densitySpine head sizeAge-dependent lossDendritic spine sizeEnhanced neurotransmissionSpine densityHippocampal neuronsDendritic spinesConditional deletionLaminin β2Postsynaptic densitySynapsesSpine sizeEarly adulthoodBehavioral defectsNeuronsBrainHead sizeMolecular mechanismsΑ5LamininNeurotransmissionTumor Necrosis Factor-α and IL-17A Activation Induces Pericyte-Mediated Basement Membrane Remodeling in Human Neutrophilic Dermatoses
Lauridsen HM, Pellowe AS, Ramanathan A, Liu R, Miller-Jensen K, McNiff JM, Pober JS, Gonzalez AL. Tumor Necrosis Factor-α and IL-17A Activation Induces Pericyte-Mediated Basement Membrane Remodeling in Human Neutrophilic Dermatoses. American Journal Of Pathology 2017, 187: 1893-1906. PMID: 28609645, PMCID: PMC5530916, DOI: 10.1016/j.ajpath.2017.04.008.Peer-Reviewed Original ResearchConceptsSweet's syndromeIL-17ATumor necrosis factorMatrix metalloproteinasesNeutrophilic dermatosisNeutrophil recruitmentNecrosis factorMMP-3Basement membraneDermal postcapillary venulesIL-17A activationPrototypical neutrophilic dermatosisVascular wall integrityCollagen IV productionExpression of fibronectinActive matrix metalloproteinasesMicrovascular changesInflammatory diseasesSkin biopsiesFibronectin levelsHuman pericytesMicrovascular remodelingHistologic analysisPostcapillary venulesTNF
2016
Endothelial basement membrane laminin 511 is essential for shear stress response
Di Russo J, Luik A, Yousif L, Budny S, Oberleithner H, Hofschröer V, Klingauf J, van Bavel E, Bakker E, Hellstrand P, Bhattachariya A, Albinsson S, Pincet F, Hallmann R, Sorokin L. Endothelial basement membrane laminin 511 is essential for shear stress response. The EMBO Journal 2016, 36: 183-201. PMID: 27940654, PMCID: PMC5239996, DOI: 10.15252/embj.201694756.Peer-Reviewed Original ResearchConceptsCell-cell adhesion strengthLaminin-511Junctional complexesVE-cadherinIntegrin-mediated interactionsEndothelial basement membrane componentVinculin-positive focal adhesionsCatenin associationFocal adhesionsStress responseCell junctionsMembrane componentsBasement membrane componentsBasement membraneArterial endotheliumCortical stiffnessMechanotransductionPECAM-1Firm anchorageEndothelial basement membraneJunctional associationMembraneConsiderable informationComplexesAdhesionDiagnosis and etiology of congenital muscular dystrophy: We are halfway there
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals Of Neurology 2016, 80: 101-111. PMID: 27159402, DOI: 10.1002/ana.24687.Peer-Reviewed Original ResearchConceptsMuscle biopsyImmunohistochemical analysisGenetic diagnosisCongenital muscular dystrophy patientsFirst-line toolCandidate gene sequencingCongenital myasthenic syndromeCongenital muscular dystrophyMuscular dystrophy patientsAnn NeurolMyasthenic syndromeUndiagnosed patientsCMD patientsCongenital myopathyLarge cohortProbable diagnosisPatientsGene sequencingClinical phenotypeDystrophy patientsLaminin α2BiopsyDiagnosisChromosomal microarrayCohort
2014
Semaphorin3a Promotes Advanced Diabetic Nephropathy
Aggarwal PK, Veron D, Thomas DB, Siegel D, Moeckel G, Kashgarian M, Tufro A. Semaphorin3a Promotes Advanced Diabetic Nephropathy. Diabetes 2014, 64: 1743-1759. PMID: 25475434, PMCID: PMC4407856, DOI: 10.2337/db14-0719.Peer-Reviewed Original ResearchMeSH KeywordsActinsAnimalsChromonesCollagen Type IVDiabetes Mellitus, ExperimentalDiabetic NephropathiesEnzyme-Linked Immunosorbent AssayGene Expression RegulationGene Knockdown TechniquesHumansIntegrin alphaVbeta3LamininMembrane ProteinsMiceMice, KnockoutMicrofilament ProteinsMicrotubule-Associated ProteinsMixed Function OxygenasesNerve Tissue ProteinsPodocytesProteinuriaReceptors, Cell SurfaceRenal InsufficiencySemaphorin-3AWT1 ProteinsXanthonesConceptsAdvanced diabetic nephropathyDiabetic nephropathyRenal insufficiencyDiffuse podocyte foot process effacementPodocyte foot process effacementSevere diabetic nephropathyCollagen IV accumulationPotential therapeutic targetFoot process effacementGlomerular nodulesKimmelstiel-WilsonRenal biopsyGlomerular filtration barrierNodular glomerulosclerosisDiabetic miceMassive proteinuriaNovel therapiesDisease outcomePathogenic factorsTargetable pathwaysTherapeutic targetProcess effacementBarrier abnormalitiesFunction miceNephropathyInfluence of pH on Extracellular Matrix Preservation During Lung Decellularization
Tsuchiya T, Balestrini JL, Mendez J, Calle EA, Zhao L, Niklason LE. Influence of pH on Extracellular Matrix Preservation During Lung Decellularization. Tissue Engineering Part C Methods 2014, 20: 1028-1036. PMID: 24735501, PMCID: PMC4241865, DOI: 10.1089/ten.tec.2013.0492.Peer-Reviewed Original ResearchRegeneration of Aplysia Bag Cell Neurons is Synergistically Enhanced by Substrate-Bound Hemolymph Proteins and Laminin
Hyland C, Dufresne ER, Forscher P. Regeneration of Aplysia Bag Cell Neurons is Synergistically Enhanced by Substrate-Bound Hemolymph Proteins and Laminin. Scientific Reports 2014, 4: 4617. PMID: 24722588, PMCID: PMC3983596, DOI: 10.1038/srep04617.Peer-Reviewed Original ResearchConceptsBag cell neuronsHemolymph proteinsRespiratory protein hemocyaninAplysia bag cell neuronsProtein complexesFurther molecular characterizationAddition of hemolymphHigh molecular weight proteinsCell neuronsMolecular weight proteinsMolecular characterizationCellular targetsExtracellular matrixProteinNervous system repairNovel synergistic effectWeight proteinsLaminin substrateHumoral proteinsLamininPossible cooperationActive factorsMigration rateEndogenous factorsPotential relevancePodocyte-Specific VEGF-A Gain of Function Induces Nodular Glomerulosclerosis in eNOS Null Mice
Veron D, Aggarwal PK, Velazquez H, Kashgarian M, Moeckel G, Tufro A. Podocyte-Specific VEGF-A Gain of Function Induces Nodular Glomerulosclerosis in eNOS Null Mice. Journal Of The American Society Of Nephrology 2014, 25: 1814-1824. PMID: 24578128, PMCID: PMC4116059, DOI: 10.1681/asn.2013070752.Peer-Reviewed Original ResearchConceptsNodular glomerulosclerosisGain of functionEndothelial nitric oxide synthase knockout miceNitric oxide synthase knockout miceGlomerular basement membrane thickeningENOS-null miceSynthase knockout miceBasement membrane thickeningWild-type miceCollagen IVArteriolar hyalinosisGlomerular nodulesGlomerular VEGFKimmelstiel-WilsonPronounced albuminuriaCreatinine clearanceRenal failureDiabetic nephropathyENOS deficiencyMassive proteinuriaDiabetic milieuMembrane thickeningPodocyte effacementDeposition of lamininKnockout mice
2013
Effect of a Matrigel Sandwich on Endodermal Differentiation of Human Embryonic Stem Cells
Lawton BR, Sosa JA, Roman S, Krause DS. Effect of a Matrigel Sandwich on Endodermal Differentiation of Human Embryonic Stem Cells. Stem Cell Reviews And Reports 2013, 9: 578-585. PMID: 23719997, DOI: 10.1007/s12015-013-9447-2.Peer-Reviewed Original ResearchMeSH KeywordsCell Culture TechniquesCell DifferentiationCell LineCell LineageCell MovementCell SurvivalCollagenDrug CombinationsEmbryonic Stem CellsEndodermFluorescent Antibody TechniqueGene Expression Regulation, DevelopmentalGlutamine-Fructose-6-Phosphate Transaminase (Isomerizing)Hepatocyte Nuclear Factor 3-alphaHepatocyte Nuclear Factor 3-betaHumansLamininProteoglycansReceptors, Cell SurfaceReverse Transcriptase Polymerase Chain ReactionSOXF Transcription FactorsTime FactorsConceptsHuman embryonic stem cellsEmbryonic stem cellsDefinitive endodermEndodermal differentiationGene expression patternsStem cellsPrecardiac mesodermExpression patternsLow-serum mediumCell deathMesenchymal transitionMigratory characteristicsKey eventsEndodermDifferentiationCell viabilityActivin ASerum mediumCellsGastrulationImproved protocolMesodermInductionGenesNutrientsA Secreted Disulfide Catalyst Controls Extracellular Matrix Composition and Function
Ilani T, Alon A, Grossman I, Horowitz B, Kartvelishvily E, Cohen S, Fass D. A Secreted Disulfide Catalyst Controls Extracellular Matrix Composition and Function. Science 2013, 341: 74-76. PMID: 23704371, DOI: 10.1126/science.1238279.Peer-Reviewed Original ResearchConceptsQuiescin sulfhydryl oxidase 1Disulfide bond formationEndoplasmic reticulumExtracellular matrixCell-matrix adhesionSulfhydryl oxidase 1Extracellular catalysisGolgi apparatusEnzyme familyExtracellular matrix propertiesSecretory proteinsExtracellular matrix compositionInhibitory monoclonal antibodiesCysteine cross-linkingIncorporation of lamininCell migrationPhysiological functionsDisulfide catalystsMonoclonal antibodiesGolgiBond formationReticulumEnzymeProteinLamininMutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Šestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities. American Journal Of Human Genetics 2013, 92: 468-474. PMID: 23472759, PMCID: PMC3591846, DOI: 10.1016/j.ajhg.2013.02.005.Peer-Reviewed Original ResearchConceptsBrain malformationsCongenital muscular dystrophyOcular abnormalitiesPial surfaceWhite matter signal abnormalitiesNeuronal migration disordersRadial glial cellsPial basement membraneLaminin subunit beta-1Brainstem hypoplasiaFirst cortical layerSignal abnormalitiesCerebellar dysplasiaGlial cellsMigration disordersMuscular abnormalitiesOccipital encephaloceleCortical layersBrain diseasesAbnormalitiesHomozygous deleterious mutationMalformationsBeta 1Muscular dystrophyAffected individuals
2012
Calcineurin-dependent cofilin activation and increased retrograde actin flow drive 5-HT–dependent neurite outgrowth in Aplysia bag cell neurons
Zhang XF, Hyland C, Van Goor D, Forscher P. Calcineurin-dependent cofilin activation and increased retrograde actin flow drive 5-HT–dependent neurite outgrowth in Aplysia bag cell neurons. Molecular Biology Of The Cell 2012, 23: 4833-4848. PMID: 23097492, PMCID: PMC3521690, DOI: 10.1091/mbc.e12-10-0715.Peer-Reviewed Original ResearchConceptsPhospholipase CNeurite outgrowthDynamic cytoskeletal processesRetrograde actin network flowP domainRetrograde actin flowActin network flowSoluble growth factorsAplysia bag cell neuronsBag cell neuronsCofilin activityWidespread mechanismCytoskeletal processesActin flowCofilin activationCell neuronsNeurite outgrowth rateMechanistic roleInositol trisphosphateOutgrowthGrowth factorDirect activationOutgrowth rateBasal levelsActivationDependence of Regenerated Sensory Axons on Continuous Neurotrophin-3 Delivery
Hou S, Nicholson L, van Niekerk E, Motsch M, Blesch A. Dependence of Regenerated Sensory Axons on Continuous Neurotrophin-3 Delivery. Journal Of Neuroscience 2012, 32: 13206-13220. PMID: 22993437, PMCID: PMC3513675, DOI: 10.1523/jneurosci.5041-11.2012.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAnimalsAntigensAxonsCell TransplantationCells, CulturedCholera ToxinDisease Models, AnimalDoxycyclineEnzyme-Linked Immunosorbent AssayFemaleGene Expression RegulationGenetic TherapyGlial Fibrillary Acidic ProteinGreen Fluorescent ProteinsHEK293 CellsHumansLamininLeukocyte L1 Antigen ComplexMembrane GlycoproteinsMicrotubule-Associated ProteinsMyelin-Oligodendrocyte GlycoproteinNerve Growth FactorsNerve RegenerationNerve Tissue ProteinsNeurofilament ProteinsNeurotrophin 3ProteoglycansRatsRats, Inbred F344S100 Calcium Binding Protein beta SubunitS100 ProteinsSchwann CellsSciatic NerveSensory Receptor CellsSpinal Cord InjuriesStem Cell TransplantationTime FactorsTransfectionConceptsNT-3 expressionRegenerated sensory axonsRegenerated axonsSensory axonsLesion siteNeurotrophin-3Dorsal column sensory axonsLesion/graft siteNT-3 gene expressionSpinal cord lesion siteCholera toxin βNT-3 deliveryIntrinsic growth capacityBone marrow stromal cellsAxodendritic synapsesConditioning lesionPresynaptic markersAxon numberSpinal cordMarrow stromal cellsSchwann cellsSensory neuronsAdult ratsDoxycycline administrationGraft siteHigh‐Efficiency Transfection and siRNA‐Mediated Gene Knockdown in Human Pluripotent Stem Cells
Ma Y, Lin H, Qiu C. High‐Efficiency Transfection and siRNA‐Mediated Gene Knockdown in Human Pluripotent Stem Cells. Current Protocols In Stem Cell Biology 2012, 21: 5c.2.1-5c.2.9. PMID: 22605647, DOI: 10.1002/9780470151808.sc05c02s21.Peer-Reviewed Original ResearchConceptsHigh transfection efficiencyPluripotent stem cellsTransfection efficiencyTransfection reagent Lipofectamine 2000Human embryonic stem cellsStem cellsHuman pluripotent stem cellsEmbryonic stem cellsPluripotent cell linesLipofectamine 2000SiRNA-mediated gene knockdownPluripotent cellsExpensive equipmentPluripotent genesGene knockdownProtocolEfficiencyPrimary cellsGenesCell linesCarriersCellsApplicationsTransfection
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