2024
MLL1 regulates cytokine-driven cell migration and metastasis
Nair P, Danilova L, Gómez-de-Mariscal E, Kim D, Fan R, Muñoz-Barrutia A, Fertig E, Wirtz D. MLL1 regulates cytokine-driven cell migration and metastasis. Science Advances 2024, 10: eadk0785. PMID: 38478601, PMCID: PMC10936879, DOI: 10.1126/sciadv.adk0785.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell MovementCytokinesHistone-Lysine N-MethyltransferaseHumansInterleukin-6LeukemiaMiceMyeloid-Lymphoid Leukemia Proteinrho-Associated KinasesTransforming Growth Factor beta1ConceptsMethyltransferase mixed-lineage leukemia 1Cell migrationControls actin filament assemblyRegulation of cell migrationHistone methyltransferase mixed-lineage leukemia 1Actin filament assemblyCell cycle-related pathwaysCancer cell migrationMixed-lineage leukemia 1Regulating cell proliferationMyosin contractilityFilament assemblyProtein meninAssociated with immune cellsMetastatic burdenCancer cellsCell proliferationPrimary tumor growth rateLung metastatic burdenTumor growth rateGrowth rateCellsPreexisting metastasesMetastatic diseaseTumor growth
2023
Multiscale genetic architecture of donor-recipient differences reveals intronic LIMS1 mismatches associated with kidney transplant survival
Sun Z, Zhang Z, Banu K, Gibson I, Colvin R, Yi Z, Zhang W, De Kumar B, Reghuvaran A, Pell J, Manes T, Djamali A, Gallon L, O'Connell P, He J, Pober J, Heeger P, Menon M. Multiscale genetic architecture of donor-recipient differences reveals intronic LIMS1 mismatches associated with kidney transplant survival. Journal Of Clinical Investigation 2023, 133: e170420. PMID: 37676733, PMCID: PMC10617779, DOI: 10.1172/jci170420.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingGraft RejectionGraft SurvivalHLA AntigensHumansKidneyKidney TransplantationLIM Domain ProteinsMembrane ProteinsTissue DonorsTransforming Growth Factor beta1ConceptsDeath-censored graft lossHuman leukocyte antigenExpression quantitative trait lociT cellsTGF-β1TGF-β1/Smad pathwayDonor-recipient differencesKidney allograft lossChronic allograft rejectionKidney transplant survivalDonor-recipient mismatchActive TGF-β1Allograft lossGraft lossAllograft rejectionTransplant cohortPeripheral bloodLeukocyte antigenClinical trialsImmune cellsHaplotype mismatchGenome-wide scaleTransplant survivalQuantitative trait lociSingle nucleotide polymorphism dataLet-7 suppresses liver fibrosis by inhibiting hepatocyte apoptosis and TGF-β production
Song J, Lv H, Liu B, Hao M, Taylor H, Zhang X, Li D, Huang Y. Let-7 suppresses liver fibrosis by inhibiting hepatocyte apoptosis and TGF-β production. Molecular Metabolism 2023, 78: 101828. PMID: 37898449, PMCID: PMC10641683, DOI: 10.1016/j.molmet.2023.101828.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisFibrosisHepatocytesHumansLiver CirrhosisMiceMicroRNAsTransforming Growth Factor beta1ConceptsFas-mediated apoptosisLet-7Hepatocyte apoptosisNegative feedback loopMouse primary hepatocytesLet-7 miRNAsTGF-b signalingSignaling networksApoptosis of hepatocytesTransient transfectionFAS expressionInhibiting hepatocyte apoptosisSiRNA knockdownLet-7 expressionLet-7 overexpressionMouse modelApoptosisPrimary hepatocytesSuppressed hepatocyte apoptosisTET3Liver fibrosisFeedback loopExpressionDriver of liver fibrosisAdeno-associated viral vectorsVascular-Parenchymal Cross-Talk Promotes Lung Fibrosis through BMPR2 Signaling.
Yanagihara T, Tsubouchi K, Zhou Q, Chong M, Otsubo K, Isshiki T, Schupp J, Sato S, Scallan C, Upagupta C, Revill S, Ayoub A, Chong S, Dvorkin-Gheva A, Kaminski N, Tikkanen J, Keshavjee S, Paré G, Guignabert C, Ask K, Kolb M. Vascular-Parenchymal Cross-Talk Promotes Lung Fibrosis through BMPR2 Signaling. American Journal Of Respiratory And Critical Care Medicine 2023, 207: 1498-1514. PMID: 36917778, DOI: 10.1164/rccm.202109-2174oc.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBone Morphogenetic Protein Receptors, Type IIEndothelial CellsFibroblastsHumansHypertension, PulmonaryIdiopathic Pulmonary FibrosisLungRatsTacrolimusTransforming Growth Factor beta1Vascular RemodelingConceptsIdiopathic pulmonary fibrosisVascular smooth muscle cellsAdvanced idiopathic pulmonary fibrosisPulmonary hypertensionFibrotic lungsVascular remodelingEndothelial cellsPulmonary fibrosisLung diseaseLung fibrosisDevelopment of PHConcomitant pulmonary hypertensionProgressive lung scarringPulmonary vascular remodelingFibrotic lung diseaseProgression of fibrosisActivation of VSMCsActive TGF-β1Fatal lung diseaseSmooth muscle cellsWhole-exome sequencingLung scarringEndothelial dysfunctionPoor prognosisFibrogenic effectsDickkopf1 Promotes Pulmonary Fibrosis upon Bleomycin-Induced Lung Injury
Sung E, Park M, Henegariu O, Sime P, Chae W. Dickkopf1 Promotes Pulmonary Fibrosis upon Bleomycin-Induced Lung Injury. American Journal Of Pathology 2023, 193: 1130-1142. PMID: 37263344, PMCID: PMC10477954, DOI: 10.1016/j.ajpath.2023.05.009.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBleomycinCollagenHumansInflammationLungLung InjuryMicePneumoniaPulmonary FibrosisTransforming Growth Factor beta1ConceptsLung injuryImmune cell infiltrationLung inflammationCell infiltrationCollagen depositionBleomycin-Induced Lung InjuryOrchestration of inflammationRole of DKK1Patient's lung tissueSmooth muscle actinGrowth factor-β1Myofibroblast marker αDKK1 protein expressionTissue repair processAntibody administrationPulmonary inflammationPulmonary fibrosisProfibrotic cytokinesDKK1 levelsAttractive molecular targetFibrosis modelLung tissueTissue injuryTissue fibrosisFactor-β1
2022
17α-estradiol, a lifespan-extending compound, attenuates liver fibrosis by modulating collagen turnover rates in male mice
Ali Mondal S, Sathiaseelan R, Mann S, Kamal M, Luo W, Saccon T, Isola J, Peelor F, Li T, Freeman W, Miller B, Stout M. 17α-estradiol, a lifespan-extending compound, attenuates liver fibrosis by modulating collagen turnover rates in male mice. AJP Endocrinology And Metabolism 2022, 324: e120-e134. PMID: 36516471, PMCID: PMC9902223, DOI: 10.1152/ajpendo.00256.2022.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCollagenEstradiolFemaleHepatic Stellate CellsLiverLiver CirrhosisLongevityMaleMatrix Metalloproteinase 2MiceTransforming Growth Factor beta1ConceptsLiver fibrosisMale miceCombination hormone replacement therapyMatrix metalloproteinase-2 activityHepatic stellate cell activationChronic liver diseaseHormone replacement therapySubset of womenMetalloproteinase-2 activityStellate cell activationGrowth factor-β1Proinflammatory macrophage activationFibrotic burdenCollagen synthesis ratesChronic treatmentLiver diseaseReplacement therapyCytokine expressionMacrophage contentImmune cellsTGF-β1Estrogen signalingHSC activationFactor-β1Macrophage activation
2021
Down-Regulation of a Profibrotic Transforming Growth Factor-β1/Cellular Communication Network Factor 2/Matrix Metalloprotease 9 Axis by Triamcinolone Improves Idiopathic Subglottic Stenosis
Treviño-Villarreal J, Reynolds J, Langston P, Thompson A, Mitchell J, Franco R. Down-Regulation of a Profibrotic Transforming Growth Factor-β1/Cellular Communication Network Factor 2/Matrix Metalloprotease 9 Axis by Triamcinolone Improves Idiopathic Subglottic Stenosis. American Journal Of Pathology 2021, 191: 1412-1430. PMID: 34111429, DOI: 10.1016/j.ajpath.2021.05.013.Peer-Reviewed Original ResearchMeSH KeywordsAnti-Inflammatory AgentsConnective Tissue Growth FactorDown-RegulationHumansInjections, IntralesionalLaryngostenosisMatrix Metalloproteinase 9Signal TransductionTransforming Growth Factor beta1TriamcinoloneConceptsIdiopathic subglottic stenosisCellular communication network factor 2Matrix metalloprotease 9TGF-b1Subglottic stenosisPromoter regionHistone acetylationLife-threatening airwaySerial intralesional steroid injectionIntralesional steroid injectionBinding to promotersProgressive fibrotic diseaseSteroid injectionClinical outcomesProfibrotic markersProspective studyGlandular epitheliumStromal fibroblastsGlandular structuresMolecular markersFibrotic diseasesMetalloprotease 9Matrix of fibronectinMolecular underpinningsFibroblast infiltration
2020
Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects
Ryu S, Lee K, Tizaoui K, Terrazzino S, Cargnin S, Effenberger M, Shin J, Kronbichler A. Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects. International Journal Of Molecular Sciences 2020, 21: 7253. PMID: 33008138, PMCID: PMC7582808, DOI: 10.3390/ijms21197253.Peer-Reviewed Original ResearchMeSH KeywordsCalpainChemokine CCL26CytokinesEosinophilic EsophagitisEsophagusGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypersensitivityInterleukin-13Th2 CellsTransforming Growth Factor beta1ConceptsGenome-wide association studiesMultiple genome-wide association studiesGenetic lociAssociation studiesThymic stromal lymphopoietinGenetic polymorphismsMolecular aspectsGenetic riskLociPathophysiology of EoE.Pathophysiology of EoERisk of EoEReflux-like symptomsInterleukin (IL)-13Food impactionTh2 cellsEosinophilic esophagitisComprehensive pathophysiologyCellsEoEGeneticsPolymorphismEoE.A Positive Feedback Loop of TET3 and TGF-β1 Promotes Liver Fibrosis
Xu Y, Sun X, Zhang R, Cao T, Cai SY, Boyer JL, Zhang X, Li D, Huang Y. A Positive Feedback Loop of TET3 and TGF-β1 Promotes Liver Fibrosis. Cell Reports 2020, 30: 1310-1318.e5. PMID: 32023451, PMCID: PMC7063678, DOI: 10.1016/j.celrep.2019.12.092.Peer-Reviewed Original Research
2019
SHIP‐1, a target of miR‐155, regulates endothelial cell responses in lung fibrosis
Tang H, Mao J, Ye X, Zhang F, Kerr W, Zheng T, Zhu Z. SHIP‐1, a target of miR‐155, regulates endothelial cell responses in lung fibrosis. The FASEB Journal 2019, 34: 2011-2023. PMID: 31907997, PMCID: PMC7449602, DOI: 10.1096/fj.201902063r.Peer-Reviewed Original ResearchConceptsMouse lung endothelial cellsLung fibrosisFibrotic responseHuman umbilical vein endothelial cellsMiR-155Endothelial cellsKnockout miceMiR-155 knockout micePrimary mouse lung endothelial cellsMiR-155KO miceSHIP-1Spontaneous lung inflammationPro-inflammatory factorsLung fibrosis modelEndothelial-mesenchymal transitionLung endothelial cellsUmbilical vein endothelial cellsPI3K/AktTGF-β1 stimulationJAK/STAT3Lung inflammationVein endothelial cellsInositol phosphatase-1BLM challengeFibrosis modelBMP signaling mediates glioma stem cell quiescence and confers treatment resistance in glioblastoma
Sachdeva R, Wu M, Johnson K, Kim H, Celebre A, Shahzad U, Graham M, Kessler J, Chuang J, Karamchandani J, Bredel M, Verhaak R, Das S. BMP signaling mediates glioma stem cell quiescence and confers treatment resistance in glioblastoma. Scientific Reports 2019, 9: 14569. PMID: 31602000, PMCID: PMC6787003, DOI: 10.1038/s41598-019-51270-1.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntineoplastic AgentsBone Morphogenetic Protein 4Bone Morphogenetic ProteinsBrain NeoplasmsCell DivisionCell Line, TumorCell ProliferationDisease ProgressionDrug Resistance, NeoplasmGlioblastomaGliomaHomeostasisHumansMiceMice, Inbred NODNeoplasm Recurrence, LocalNeoplasm TransplantationNeoplastic Stem CellsPhenotypeRNA, Small InterferingSequence Analysis, RNASignal TransductionTemozolomideTransforming Growth Factor betaTransforming Growth Factor beta1ConceptsBMP pathway activationStem cell homeostasisStem cell systemStem cell quiescenceStem cell populationCancer stem cell populationInhibits cell proliferationStem-like cellsCancer stem cellsCell quiescenceCell homeostasisFunctional identityDismal prognosisTemozolomide chemotherapyCytotoxic therapyTumor recurrenceCellular reservoirsTreatment resistanceTherapeutic resistanceIncurable diseaseTumor progressionStem cellsCell proliferationPathway activationGlioblastomaIncreased T Cell Differentiation and Cytolytic Function in Bangladeshi Compared to American Children
Wagar LE, Bolen CR, Sigal N, Angel C, Guan L, Kirkpatrick BD, Haque R, Tibshirani RJ, Parsonnet J, Petri WA, Davis MM. Increased T Cell Differentiation and Cytolytic Function in Bangladeshi Compared to American Children. Frontiers In Immunology 2019, 10: 2239. PMID: 31620139, PMCID: PMC6763580, DOI: 10.3389/fimmu.2019.02239.Peer-Reviewed Original ResearchConceptsPeripheral blood mononuclear cellsYears of ageIL-8Immune cellsPMA-ionomycinInfection-related morbidityIncidence of allergyBlood mononuclear cellsCytokine production profileT cell differentiationYears of lifeHygiene hypothesisImmune monitoringCytolytic functionMononuclear cellsHigh-income countriesImmune responseBangladeshi childrenMicrobial exposureAmerican childrenTGFβ expressionInfectious agentsImmune systemClinical healthAltered activationRole of dual-specificity protein phosphatase DUSP10/MKP-5 in pulmonary fibrosis
Xylourgidis N, Min K, Ahangari F, Yu G, Herazo-Maya JD, Karampitsakos T, Aidinis V, Binzenhöfer L, Bouros D, Bennett AM, Kaminski N, Tzouvelekis A. Role of dual-specificity protein phosphatase DUSP10/MKP-5 in pulmonary fibrosis. American Journal Of Physiology - Lung Cellular And Molecular Physiology 2019, 317: l678-l689. PMID: 31483681, PMCID: PMC6879900, DOI: 10.1152/ajplung.00264.2018.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntibiotics, AntineoplasticBleomycinDual-Specificity PhosphatasesFemaleFibroblastsHumansMAP Kinase Signaling SystemMiceMice, Inbred C57BLMice, KnockoutMitogen-Activated Protein Kinase PhosphatasesPhosphorylationPulmonary FibrosisSignal TransductionTransforming Growth Factor beta1ConceptsPulmonary fibrosisLung fibrosisFibrogenic genesLung fibroblastsM1 macrophage phenotypeIdiopathic pulmonary fibrosisHuman lung fibrosisGrowth factor-β1Levels of hydroxyprolineProtein kinase phosphatase 5IPF lungsReduced fibrosisMuscle fibrosisProfibrogenic effectsTGF-β1Smad7 levelsTherapeutic targetAnimal modelsFactor-β1FibrosisSmad3 phosphorylationEnhanced p38 MAPK activityP38 MAPK activityMyofibroblast differentiationMKP-5 expressionThermal stability of cytokines: A review
Simpson S, Kaislasuo J, Guller S, Pal L. Thermal stability of cytokines: A review. Cytokine 2019, 125: 154829. PMID: 31472404, DOI: 10.1016/j.cyto.2019.154829.Peer-Reviewed Original ResearchConceptsCytokine storageProtective effects of GPR120 agonist-programmed macrophages on renal interstitial fibrosis in unilateral ureteral obstruction (UUO) rats
Wang L, Ren X, Tian XF, Cheng XL, Zhao YY, Li QY, Duan ZY, Tian LF, Chen Z, Lu JM, Liang XY, Zhao YF, Fu RG. Protective effects of GPR120 agonist-programmed macrophages on renal interstitial fibrosis in unilateral ureteral obstruction (UUO) rats. Biomedicine & Pharmacotherapy 2019, 117: 109172. PMID: 31261028, DOI: 10.1016/j.biopha.2019.109172.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsbeta CateninBiphenyl CompoundsCytokinesFibrosisGene Expression RegulationKidney DiseasesMacrophages, PeritonealMaleModels, BiologicalPhenotypePhenylpropionatesProtective AgentsRats, Sprague-DawleyReceptors, G-Protein-CoupledSignal TransductionTransforming Growth Factor beta1Ureteral ObstructionVimentinConceptsRenal interstitial fibrosisUnilateral ureteral obstructionInterstitial fibrosisUreteral obstructionProtective effectFree fatty acid receptor GPR120Fatty acid receptor GPR120Unilateral ureteral obstruction operationPeritoneal macrophagesAbnormal expressionExpression of CD206M2 phenotype macrophagesTumor necrosis factorEpithelial-mesenchymal transitionAutologous administrationReceptor GPR120UUO ratsInterleukin-6Intrarenal injectionArginase-1Necrosis factorGPR120 agonistM2 phenotypeΑ-SMATGF-β1LMO7 Is a Negative Feedback Regulator of Transforming Growth Factor β Signaling and Fibrosis
Xie Y, Ostriker AC, Jin Y, Hu H, Sizer AJ, Peng G, Morris AH, Ryu C, Herzog EL, Kyriakides T, Zhao H, Dardik A, Yu J, Hwa J, Martin KA. LMO7 Is a Negative Feedback Regulator of Transforming Growth Factor β Signaling and Fibrosis. Circulation 2019, 139: 679-693. PMID: 30586711, PMCID: PMC6371979, DOI: 10.1161/circulationaha.118.034615.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell ProliferationCells, CulturedDisease Models, AnimalExtracellular MatrixFeedback, PhysiologicalFibrosisHyperplasiaIntegrin alphaVbeta3LIM Domain ProteinsMaleMice, Inbred C57BLMice, KnockoutMuscle, Smooth, VascularMyocytes, Smooth MuscleNeointimaSignal TransductionTranscription Factor AP-1Transcription FactorsTransforming Growth Factor beta1Vascular RemodelingVascular System InjuriesConceptsSmooth muscle cellsActivator protein-1 (AP-1) transcription factorExtracellular matrixProtein-1 transcription factorTransforming Growth Factor β SignalingGrowth factor β signalingMouse smooth muscle cellsTGF-β1 target genesHuman smooth muscle cellsActivator protein-1Muscle-specific deletionNegative feedback regulatorTGF-β pathwayECM protein expressionSmad3 phosphorylationNegative feedback regulationTranscription factorsArteriovenous fistulaECM depositionDomain interactsTGF-β proteinTarget genesLMO7TGF-β treatmentGrowth factor β
2018
Inhibition of profibrotic microRNA-21 affects platelets and their releasate
Barwari T, Eminaga S, Mayr U, Lu R, Armstrong PC, Chan MV, Sahraei M, Fernández-Fuertes M, Moreau T, Barallobre-Barreiro J, Lynch M, Yin X, Schulte C, Baig F, Pechlaner R, Langley SR, Zampetaki A, Santer P, Weger M, Plasenzotti R, Schosserer M, Grillari J, Kiechl S, Willeit J, Shah AM, Ghevaert C, Warner TD, Fernández-Hernando C, Suárez Y, Mayr M. Inhibition of profibrotic microRNA-21 affects platelets and their releasate. JCI Insight 2018, 3: e123335. PMID: 30385722, PMCID: PMC6238735, DOI: 10.1172/jci.insight.123335.Peer-Reviewed Original ResearchConceptsMiR-21 inhibitionMiR-21TGF-β1TGF-β1 secretionMiR-21 levelsMiR-21 mimicsMiR-21 inhibitorMurine cardiac fibroblastsBruneck StudyLow plateletsAntifibrotic effectsProfibrotic factorsLeukocyte countSpecific therapyClinical trialsOrgan diseaseTGF-β1 releaseLittermate controlsBone marrowCardiac fibroblastsMegakaryocyte numberMouse heartsFibrosisPlasma samplesPlatelet releasePD-1 up-regulation on CD4+ T cells promotes pulmonary fibrosis through STAT3-mediated IL-17A and TGF-β1 production
Celada LJ, Kropski JA, Herazo-Maya JD, Luo W, Creecy A, Abad AT, Chioma OS, Lee G, Hassell NE, Shaginurova GI, Wang Y, Johnson JE, Kerrigan A, Mason WR, Baughman RP, Ayers GD, Bernard GR, Culver DA, Montgomery CG, Maher TM, Molyneaux PL, Noth I, Mutsaers SE, Prele CM, Peebles R, Newcomb DC, Kaminski N, Blackwell TS, Van Kaer L, Drake WP. PD-1 up-regulation on CD4+ T cells promotes pulmonary fibrosis through STAT3-mediated IL-17A and TGF-β1 production. Science Translational Medicine 2018, 10 PMID: 30257954, PMCID: PMC6263177, DOI: 10.1126/scitranslmed.aar8356.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAnimalsBleomycinCD4-Positive T-LymphocytesCell ProliferationCollagen Type IDisease Models, AnimalFemaleFibroblastsGene Expression RegulationHumansIdiopathic Pulmonary FibrosisInterleukin-17MaleMiceMiddle AgedProgrammed Cell Death 1 ReceptorRNA, MessengerSarcoidosisSTAT3 Transcription FactorTh17 CellsTransforming Growth Factor beta1Up-RegulationConceptsIdiopathic pulmonary fibrosisPD-1Pulmonary fibrosisT cellsCollagen-1 productionPD-1 pathway blockadeCell death ligand 1T helper 17 (Th17) cellsPD-1 regulationIL-17A expressionProgressive inflammatory diseaseDeath ligand 1Helper 17 cellsT cell subsetsCell death 1Limited therapeutic optionsTGF-β1 productionLung disease pathophysiologyHuman lung fibroblastsPredominant CD4Bleomycin administrationIL-17ADeath-1Therapeutic optionsCell subsetsMultikinase inhibitor sorafenib induces skin toxicities in tumor-bearing mice
Tian A, Lu H, Zhang J, Fu S, Jiang Z, Lam W, Guan F, Chen L, Feng L, Cheng Y. Multikinase inhibitor sorafenib induces skin toxicities in tumor-bearing mice. Cancer Chemotherapy And Pharmacology 2018, 81: 1025-1033. PMID: 29633006, DOI: 10.1007/s00280-018-3575-y.Peer-Reviewed Original ResearchConceptsSkin lesionsConcentrations of sorafenibBDF1 miceNude miceTGF-β1/SmadSevere cutaneous lesionsInduced skin lesionsTumor growth factorTumor-bearing miceSkin of miceSmooth muscle actinCell nuclear antigenF4-80Ly6GSkin rashConclusionsThe severityCutaneous lesionsSkin toxicitySorafenib treatmentPathological scoresSkin reactionsMultikinase inhibitorPathologic changesAnimal modelsHigh dosesHuman TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C. Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics 2018, 50: 344-348. PMID: 29483653, PMCID: PMC6309869, DOI: 10.1038/s41588-018-0063-6.Peer-Reviewed Original ResearchMeSH KeywordsBrain DiseasesDNA Mutational AnalysisFemaleHumansInflammatory Bowel DiseasesMalePedigreeSeverity of Illness IndexTransforming Growth Factor beta1ConceptsInfantile inflammatory bowel diseaseInflammatory bowel diseaseTGF-β1Bowel diseaseSevere inflammatory bowel diseaseCentral nervous system diseaseNervous system diseasesRole of TGFPosterior leukoencephalopathyIntestinal immunityBrain atrophySystem diseasesTGFB1 geneBiallelic lossImpaired secretionGrowth factorTGF-β familyDiseaseTGF-β1 deficiencyNonredundant roleFunction mutationsPrototypic memberLeukoencephalopathyAtrophyEpilepsy
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