2023
Oncogene-like addiction to aneuploidy in human cancers
Girish V, Lakhani A, Thompson S, Scaduto C, Brown L, Hagenson R, Sausville E, Mendelson B, Kandikuppa P, Lukow D, Yuan M, Stevens E, Lee S, Schukken K, Akalu S, Vasudevan A, Zou C, Salovska B, Li W, Smith J, Taylor A, Martienssen R, Liu Y, Sun R, Sheltzer J. Oncogene-like addiction to aneuploidy in human cancers. Science 2023, 381: eadg4521. PMID: 37410869, PMCID: PMC10753973, DOI: 10.1126/science.adg4521.Peer-Reviewed Original ResearchThe common trisomy syndromes, their cardiac implications, and ethical considerations in care
Kosiv K, Mercurio M, Carey J. The common trisomy syndromes, their cardiac implications, and ethical considerations in care. Current Opinion In Pediatrics 2023, 35: 531-537. PMID: 37551160, DOI: 10.1097/mop.0000000000001278.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseCardiac surgeryHeart diseaseTrisomy 13Trisomy 21Cardiac surgical repairCongenital heart surgeryCardiac implicationsPulmonary hypertensionSurgical repairSurgical interventionPatient populationHeart surgerySurgeryTreatment planCommon trisomiesDiseaseTrisomyCareSurvivalHypertensionMorbidityPatientsManagementEthical controversies
2020
Developmental potential of aneuploid human embryos cultured beyond implantation
Shahbazi MN, Wang T, Tao X, Weatherbee BAT, Sun L, Zhan Y, Keller L, Smith GD, Pellicer A, Scott RT, Seli E, Zernicka-Goetz M. Developmental potential of aneuploid human embryos cultured beyond implantation. Nature Communications 2020, 11: 3987. PMID: 32778678, PMCID: PMC7418029, DOI: 10.1038/s41467-020-17764-7.Peer-Reviewed Original ResearchMeSH KeywordsAneuploidyAntigens, CDCadherinsCell AdhesionCell Cycle CheckpointsCell LineageChromosome SegregationChromosomes, Human, Pair 16Chromosomes, Human, Pair 21Embryo ImplantationEmbryo, MammalianEmbryonic DevelopmentFemaleGenes, erbB-1Genetic TestingHumansMonosomyMosaicismPregnancyStem CellsTrisomyConceptsEarly pregnancy lossAneuploid human embryosPre-implantation genetic testingHuman embryosPost-implantation developmentTrisomy 16 embryosPregnancy lossCell cycle arrestGenetic testingTrisomy 15Major causeCases of mosaicismCycle arrestE-cadherinTrisomy 21 embryosProtein E-cadherinHigh rateCommon aneuploidiesStem cellsPremature differentiationAbnormal numberAneuploidyCell adhesion protein E-cadherinDevelopmental potentialArrestIsolated trisomy 11 in patients with acute myeloid leukemia – is the prognosis not as grim as previously thought?*
Bewersdorf JP, Shallis RM, Diadamo A, Gowda L, Podoltsev NA, Siddon A, Zeidan AM. Isolated trisomy 11 in patients with acute myeloid leukemia – is the prognosis not as grim as previously thought?*. Leukemia & Lymphoma 2020, 61: 2254-2257. PMID: 32338096, PMCID: PMC7485109, DOI: 10.1080/10428194.2020.1755858.Peer-Reviewed Original Research
2017
Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18
Kosiv KA, Gossett JM, Bai S, Collins RT. Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18. 2017, 140: e20170772. PMID: 29046387, DOI: 10.1542/peds.2017-0772.Peer-Reviewed Original ResearchConceptsCongenital heart surgeryCongenital heart diseaseHospital mortalityHeart surgeryPediatric Health Information System databaseTrisomy 13Health Information System databaseIn-Hospital MortalityLength of stayDays of ageHospital readmissionSurgical repairStudy cohortFemale sexHeart diseaseInformation System databaseMost centersTrisomy 18Select casesInfantsMortalityOlder ageSurgerySystem databaseT18Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells
Liu Y, Borel C, Li L, Müller T, Williams EG, Germain PL, Buljan M, Sajic T, Boersema PJ, Shao W, Faini M, Testa G, Beyer A, Antonarakis SE, Aebersold R. Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells. Nature Communications 2017, 8: 1212. PMID: 29089484, PMCID: PMC5663699, DOI: 10.1038/s41467-017-01422-6.Peer-Reviewed Original ResearchConceptsSWATH mass spectrometryPost-transcriptional effectsMitochondrial proteomeProteome remodelingProteomic resourceTranscriptomic dataProteomic dataProtein abundanceProtein turnoverEntire chromosome 21ProteomeProtein expressionPhenotypic manifestationsChromosome 21Fibroblast cellsStoichiometric complexSignificant downregulationMonozygotic twin pair discordantTwin pair discordantMass spectrometryMajor determinantChromosomesProteinPair discordantAbundanceDivergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis
Julia T, Carvalho C, Yuan B, Gu S, Altheimer A, McCarthy S, Malhotra D, Sebat J, Siegel A, Rudolph U, Lupski J, Levy D, Brennand K. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports 2017, 8: 519-528. PMID: 28216146, PMCID: PMC5355568, DOI: 10.1016/j.stemcr.2017.01.010.Peer-Reviewed Original Research
2016
Cost utility of ERCP-based modalities for the diagnosis of cholangiocarcinoma in primary sclerosing cholangitis
Njei B, McCarty TR, Varadarajulu S, Navaneethan U. Cost utility of ERCP-based modalities for the diagnosis of cholangiocarcinoma in primary sclerosing cholangitis. Gastrointestinal Endoscopy 2016, 85: 773-781.e10. PMID: 27590963, DOI: 10.1016/j.gie.2016.08.020.Peer-Reviewed Original Research
2014
The Developmental Potential of iPSCs Is Greatly Influenced by Reprogramming Factor Selection
Buganim Y, Markoulaki S, van Wietmarschen N, Hoke H, Wu T, Ganz K, Akhtar-Zaidi B, He Y, Abraham BJ, Porubsky D, Kulenkampff E, Faddah DA, Shi L, Gao Q, Sarkar S, Cohen M, Goldmann J, Nery JR, Schultz MD, Ecker JR, Xiao A, Young RA, Lansdorp PM, Jaenisch R. The Developmental Potential of iPSCs Is Greatly Influenced by Reprogramming Factor Selection. Cell Stem Cell 2014, 15: 295-309. PMID: 25192464, PMCID: PMC4170792, DOI: 10.1016/j.stem.2014.07.003.Peer-Reviewed Original ResearchAnimalsCell LineCellular ReprogrammingChimeraChromosomes, Human, Pair 8DNA MethylationEmbryonic Stem CellsEnhancer Elements, GeneticGene Expression ProfilingGenomeHistonesHumansInduced Pluripotent Stem CellsKruppel-Like Factor 4Mice, Inbred C57BLMice, Inbred DBARNA, MessengerTranscription FactorsTrisomy
2013
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma
Minhas HM, Pescosolido MF, Schwede M, Piasecka J, Gaitanis J, Tantravahi U, Morrow EM. An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma. American Journal Of Medical Genetics Part A 2013, 161: 787-791. PMID: 23495067, PMCID: PMC3606653, DOI: 10.1002/ajmg.a.35841.Peer-Reviewed Original ResearchAstrocytomaCerebellar NeoplasmsChildChild Development Disorders, PervasiveChild, PreschoolChromosome DeletionChromosomes, Human, Pair 10Chromosomes, Human, Pair 11Comparative Genomic HybridizationCytoskeletal ProteinsHumansIn Situ Hybridization, FluorescenceKaryotypeMalePedigreeProteinsTranslocation, GeneticTrisomy
2000
Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization
Ozcan T, Burki N, Parkash V, Huang X, Pejovic T, Mahoney M, Ward D. Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization. Prenatal Diagnosis 2000, 20: 41-44. PMID: 10701850, DOI: 10.1002/(sici)1097-0223(200001)20:1<41::aid-pd742>3.0.co;2-0.Peer-Reviewed Original ResearchChromosome AberrationsChromosomes, Human, Pair 13Chromosomes, Human, Pair 18Chromosomes, Human, Pair 2Chromosomes, Human, Pair 21Chromosomes, Human, Pair 6Cytogenetic AnalysisDown SyndromeFemaleGene DeletionHumansIsochromosomesKaryotypingNucleic Acid HybridizationParaffinPlacentaPregnancyTissue EmbeddingTrisomy
1997
First-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age
Bahado-Singh R, Lynch L, Deren O, Morroti R, Copel J, Mahoney M, Williams J. First-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age. American Journal Of Obstetrics And Gynecology 1997, 176: 976-980. PMID: 9166154, DOI: 10.1016/s0002-9378(97)70388-0.Peer-Reviewed Original ResearchConceptsCrown-rump lengthGestational ageTrisomy 18First trimester fetal growthFirst-trimester crown-rump lengthLength shorteningFirst-trimester growth restrictionLast menstrual periodReceiver operator characteristic curveFirst-trimester fetusesPrenatal diagnosis centerWeeks' gestationRisk pregnanciesFetal growthAneuploidy riskControl fetusesGrowth restrictionMenstrual periodNormal groupNormal fetusesTrimester fetusesAneuploid fetusesTrisomy 21Trisomy 13Down syndromeMild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3)
Henegariu O, Heerema N, Vance G. Mild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3). American Journal Of Medical Genetics 1997, 68: 450-454. PMID: 9021020, DOI: 10.1002/(sici)1096-8628(19970211)68:4<450::aid-ajmg15>3.0.co;2-r.Peer-Reviewed Original Research
1996
Prostaglandin D2 synthase: a component of human amniotic fluid and its association with fetal abnormalities.
Melegos D, Yu H, Diamandis E. Prostaglandin D2 synthase: a component of human amniotic fluid and its association with fetal abnormalities. Clinical Chemistry 1996, 42: 1042-1050. PMID: 8674187, DOI: 10.1093/clinchem/42.7.1042.Peer-Reviewed Original ResearchConceptsProstate-specific antigenAmniotic fluidHuman amniotic fluidGestational week 12Western blot analysisAbnormal pregnanciesPGD2 synthaseStrong immunoreactive bandWeek 12Monoclonal anti-PSA antibodiesRenal abnormalitiesProstaglandin D2 synthaseTrisomic fetusesPGD2 productionFetal abnormalitiesAnti-PSA antibodiesImmunoreactive bandsBlot analysisSemiquantitative analysisFetusesAbnormalitiesPolyclonal antibodiesImmunoreactive speciesAntibodiesAmino acid sequence analysis
1995
Single umbilical artery: Does it matter which artery is missing?
Abuhamad A, Shaffer W, Mari G, Copel J, Hobbins J, Evans A. Single umbilical artery: Does it matter which artery is missing? American Journal Of Obstetrics And Gynecology 1995, 173: 728-732. PMID: 7573234, DOI: 10.1016/0002-9378(95)90331-3.Peer-Reviewed Original ResearchConceptsSingle umbilical arteryGestational age fetusesUmbilical arteryLeft arteryCongenital anomaliesRight arteryIsolated single umbilical arteryComplex fetal anomaliesLeft umbilical arteryComplex congenital anomaliesProspective studyIsolated findingFetal anomaliesArteryCytogenetic abnormalitiesComplex anomaliesFetusesPregnancyPrevious reportsAbsenceAbnormalitiesIncidenceSonograms
1991
Congenital Heart Disease and Fetal Thoracoabdominal Anomalies: Associations in Utero and the Importance of Cytogenetic Analysis
Fogel M, Copel J, Cullen M, Hobbins J, Kleinman C. Congenital Heart Disease and Fetal Thoracoabdominal Anomalies: Associations in Utero and the Importance of Cytogenetic Analysis. American Journal Of Perinatology 1991, 8: 411-416. PMID: 1839950, DOI: 10.1055/s-2007-999427.Peer-Reviewed Original ResearchConceptsCongenital heart diseasePosterior diaphragmatic herniaDuodenal atresiaHeart diseaseExtracardiac malformationsDiaphragmatic herniaFetal echocardiographyNormal cardiac structureFetal echocardiogramMost fetusesPrenatal evaluationAbnormal karyotypeCardiac structureCytogenetic abnormalitiesFetusesAtresiaOmphaloceleNormal karyotypeAbnormalitiesDiseaseEchocardiographyGastroschisisHerniaPrenatal diagnosisMalformationsPreeclampsia, trisomy 13, and the placental bed.
Feinberg RF, Kliman HJ, Cohen AW. Preeclampsia, trisomy 13, and the placental bed. Obstetrics And Gynecology 1991, 78: 505-8. PMID: 1870809.Peer-Reviewed Original ResearchConceptsTrisomy 13Placental bedAbnormal trophoblastic invasionGrowth-retarded infantsNormal physiologic changesDevelopment of preeclampsiaMaternal uterine vasculatureFetal trisomy 13Severe preeclampsiaMultiparous womenSpiral arteriesUterine vasculatureTrophoblastic invasionPhysiologic changesTrophoblastic functionGenetic predispositionPreeclampsiaMultiparasBiopsyArteryPathophysiologyInfants
1988
Trisomy 18 associated with ectopia cordis and occipital meningocele
Bick D, Markowitz R, Horwich A, Opitz J, Reynolds J. Trisomy 18 associated with ectopia cordis and occipital meningocele. American Journal Of Medical Genetics 1988, 30: 805-810. PMID: 3189399, DOI: 10.1002/ajmg.1320300313.Peer-Reviewed Original Research
1976
Increased frequency of heterozygotes for α1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21
FINEMAN R, KIDD K, JOHNSON A, BREG W. Increased frequency of heterozygotes for α1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21. Nature 1976, 260: 320-321. PMID: 1082990, DOI: 10.1038/260320a0.Peer-Reviewed Original Research
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