2025
Characterizing Stroke Clots Using Single-Cell Sequencing.
Renedo D, Barak T, DeLong J, Acosta J, Sujijantarat N, Koo A, Rivier C, Clocchiatti-Tuozzo S, Huo S, Antonios J, Giles J, Falcone G, Sheth K, Hebert R, Gunel M, Sansing L, Navaratnam D, Matouk C. Characterizing Stroke Clots Using Single-Cell Sequencing. Journal Of The American Heart Association 2025, 14: ejaha2025041738t. PMID: 40878981, DOI: 10.1161/jaha.125.041738.Peer-Reviewed Original ResearchConceptsMulti-marker analysisGene expressionMulti-marker Analysis of GenoMic AnnotationCell type-specific gene expressionT cellsGenome-wide association studiesGene expression of cellsSingle-cell RNA sequencingPotential biomarkersTIMP1Genes associated with atherosclerosisHLA-DRB1*01Single-cell sequencingExpression of genesUpregulated expression of genesGene expression profilesCarotid atherosclerosisGenome annotationCD8 T cellsUpregulated expressionImmune cell compositionAssociation studiesNatural killer cellsImmune cell populationsLarge vessel occlusion strokeDysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsy
2021
Targeting the CSF1/CSF1R axis is a potential treatment strategy for malignant meningiomas
Yeung J, Yaghoobi V, Miyagishima D, Vesely MD, Zhang T, Badri T, Nassar A, Han X, Sanmamed MF, Youngblood M, Peyre M, Kalamarides M, Rimm DL, Gunel M, Chen L. Targeting the CSF1/CSF1R axis is a potential treatment strategy for malignant meningiomas. Neuro-Oncology 2021, 23: 1922-1935. PMID: 33914067, PMCID: PMC8563319, DOI: 10.1093/neuonc/noab075.Peer-Reviewed Original ResearchConceptsColony-stimulating factor-1Myeloid cellsMalignant meningiomasTumor microenvironmentCSF1/CSF1RRNA-seqRNA sequencingHuman meningiomasImmune subsetsGene expressionT cellsTreatment strategiesNormalization cancer immunotherapyImportant regulatorCell typesNovel immunocompetent murine modelDeath ligand 1 (PD-L1) expressionCell death receptor-1Immunosuppressive myeloid cellsDeath receptor-1Ligand 1 expressionFactor 1Immune cell typesImmunocompetent murine modelEffective treatment strategies
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