2018
Association of CACNA1C with bipolar disorder among the Pakistani population
Khalid M, Driessen TM, Lee JS, Tejwani L, Rasool A, Saqlain M, Shiaq PA, Hanif M, Nawaz A, DeWan AT, Raja GK, Lim J. Association of CACNA1C with bipolar disorder among the Pakistani population. Gene 2018, 664: 119-126. PMID: 29684488, PMCID: PMC5970093, DOI: 10.1016/j.gene.2018.04.061.Peer-Reviewed Original ResearchConceptsBipolar disorderPakistani populationSingle nucleotide polymorphismsRisk allelesRisk score assessmentMore risk allelesScore assessmentControl individualsSignificant associationCACNA1CAssociationGenotyping resultsDisordersRs1006737Present studyNucleotide polymorphismsEthnic groupsPopulationAssociation of CACNA1CProtein-protein interaction networkRs9804190ANK3
2017
Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation
Thomas CA, Tejwani L, Trujillo CA, Negraes PD, Herai RH, Mesci P, Macia A, Crow YJ, Muotri AR. Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation. Cell Stem Cell 2017, 21: 319-331.e8. PMID: 28803918, PMCID: PMC5591075, DOI: 10.1016/j.stem.2017.07.009.Peer-Reviewed Original ResearchMeSH KeywordsAstrocytesAutoimmune DiseasesBase SequenceCell ExtractsChildCytosolDNAExodeoxyribonucleasesHumansInfantInfant, NewbornInflammationInterferonsLong Interspersed Nucleotide ElementsMaleMicrocephalyNervous SystemNeural Stem CellsNeuronsOrganoidsPhenotypePhosphoproteinsStem CellsUp-RegulationConceptsThree-prime repair exonuclease 1Aicardi-Goutières syndromeAutoimmune diseasesSource of neuroinflammationType I interferon secretionSystemic lupus erythematosusRepair exonuclease 1Reverse transcriptase inhibitorStem cellsDisease-relevant phenotypesNeuroinflammatory disordersLupus erythematosusTherapeutic regimensCortical organoidsInflammatory responseInterferon secretionRelated disordersObserved neurotoxicityNeural cellsNeurotoxicityDiseaseNeuronsPluripotent stem cellsDisordersHuman stem cells