2025
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A, Sheppard M, Famulski J, Nicoli S, Mukherjee S, Sips P, Elefteriades J. Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity? Frontiers In Cardiovascular Medicine 2025, 12: 1480407. PMID: 40066353, PMCID: PMC11892108, DOI: 10.3389/fcvm.2025.1480407.Peer-Reviewed Original ResearchPathogenicity of VUSProportion of variantsMedical genetic testingCausal genesPathogenicity assessmentClinical pathogensTested pathogensGenetic variantsCausative genesTAAD casesGenesGenetic defectsGenetic testingThoracic aortic aneurysmHeritable genetic defectsImpact cardiovascular morbidityPathogensVUSAortic aneurysmCardiovascular morbidityVariantsZebrafishTAADClinical applicationEnhance patient care
2022
Lactate-dependent chaperone-mediated autophagy induces oscillatory HIF-1α activity promoting proliferation of hypoxic cells
Kshitiz, Afzal J, Suhail Y, Chang H, Hubbi M, Hamidzadeh A, Goyal R, Liu Y, Sun P, Nicoli S, Dang C, Levchenko A. Lactate-dependent chaperone-mediated autophagy induces oscillatory HIF-1α activity promoting proliferation of hypoxic cells. Cell Systems 2022, 13: 1048-1064.e7. PMID: 36462504, PMCID: PMC10012408, DOI: 10.1016/j.cels.2022.11.003.Peer-Reviewed Original ResearchConceptsHIF-1α activityActivation of genesChaperone-mediated autophagyCancer cellsCell divisionIndividual cancer cellsRegulated processPatient-derived cancer cellsSubset of cellsMolecular mechanismsFluorescent reportersSingle-cell responsesCancer cell linesCell linesGenesHypoxic tumor cellsHIF-1αHypoxic conditionsCellsBroad suppressionAggressive growthTumor cellsHypoxic cellsOscillatory activityExtracellular lactate
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