2022
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP, Lim J, Raja GK. A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells 2022, 11: 3090. PMID: 36231052, PMCID: PMC9564319, DOI: 10.3390/cells11193090.Peer-Reviewed Original ResearchConceptsAutosomal recessive cerebellar ataxiaCerebellar ataxiaProgressive gait ataxiaMagnetic resonance imagingT mutationHeterogeneous rare disordersNovel homozygous missense mutationWhole-exome sequencingMissense mutationsGait ataxiaMovement disordersDifferential diagnosisRare disorderCerebellar atrophyHomozygous missense mutationConsanguineous Pakistani familyNovel missense mutationResonance imagingBody imbalanceExome sequencingYoung adultsHomozygous mutationPakistani familyAtaxiaType A
2020
Genetic 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
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