2020
Pharmacological reversal of synaptic and network pathology in human MECP2‐KO neurons and cortical organoids
Trujillo CA, Adams JW, Negraes PD, Carromeu C, Tejwani L, Acab A, Tsuda B, Thomas CA, Sodhi N, Fichter KM, Romero S, Zanella F, Sejnowski TJ, Ulrich H, Muotri AR. Pharmacological reversal of synaptic and network pathology in human MECP2‐KO neurons and cortical organoids. EMBO Molecular Medicine 2020, 13: emmm202012523. PMID: 33501759, PMCID: PMC7799367, DOI: 10.15252/emmm.202012523.Peer-Reviewed Original ResearchConceptsRett syndromeCortical organoidsPredominant etiologyNeurodevelopmental impairmentPharmacological reversalPHA-543613Neuropathologic phenotypeSynaptic dysregulationClinical studiesHuman pluripotent stem cell technologySymptomatic severityHuman neuronsMeCP2 deficiencyCandidate therapeuticsBrain mosaicismNetwork pathologyPharmacological compoundsPluripotent stem cell (iPSC) technologyNeurodevelopmental disordersMECP2 mutationsNeuropathologyMECP2 geneNeuronsCellular mosaicismStem cell technologyGenetic Risk of Autism Spectrum Disorder in a Pakistani Population
Khalid M, Raza H, Driessen T, Lee P, Tejwani L, Sami A, Nawaz M, Baig S, Lim J, Raja G. Genetic Risk of Autism Spectrum Disorder in a Pakistani Population. Genes 2020, 11: 1206. PMID: 33076578, PMCID: PMC7602870, DOI: 10.3390/genes11101206.Peer-Reviewed Original Research
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