DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease
Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease. JAMA Neurology 2021, 78: 993-1003. PMID: 34125151, PMCID: PMC8204259, DOI: 10.1001/jamaneurol.2021.1681.Peer-Reviewed Original ResearchConceptsSporadic moyamoya diseaseMoyamoya diseaseValidation cohortDiscovery cohortIntracranial internal carotid arteryRisk genesBilateral moyamoya diseaseTransfusion-dependent thrombocytopeniaLarger validation cohortNon-East Asian patientsInternal carotid arteryAsian individualsCompound heterozygous variantsNon-East AsiansProgressive vasculopathyTransmitted variantsAsian patientsChildhood strokeMedical recordsCarotid arteryTherapeutic ramificationsMAIN OUTCOMEMouse brain tissuePatientsUS hospitalsA novel signature predicts recurrence risk and therapeutic response in breast cancer patients
Tran QH, Than VT, Luu PL, Clarke D, Lam HN, Nguyen T, Nguyen D, Duy PQ, Phung D, Nguyen MN. A novel signature predicts recurrence risk and therapeutic response in breast cancer patients. International Journal Of Cancer 2021, 148: 2848-2856. PMID: 33586202, DOI: 10.1002/ijc.33512.Peer-Reviewed Original ResearchMeSH KeywordsAcetylserotonin O-MethyltransferaseBreast NeoplasmsDatabases, GeneticFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansNeoplasm GradingOligonucleotide Array Sequence AnalysisRetrospective StudiesSequence Analysis, RNASurvival AnalysisTamoxifenTreatment OutcomeUp-RegulationConceptsBreast cancer patientsAcetylserotonin O-methyltransferaseEndocrine therapyCancer patientsASMT expressionRelapse-free survival outcomesMetastasis-free survival timeLonger metastasis-free survival timesLow-risk casesBreast cancer progressionBreast cancer tumorsAdjuvant chemotherapyOverall survivalTamoxifen treatmentEndocrine resistanceDistance recurrenceMRNA array dataRetrospective studySurvival outcomesTherapeutic responseBreast cancerSurvival timePatientsRecurrence riskSynthesis of melatonin