Browsing by Author "Pinter, Stefan F."

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  • A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction
    Bansal, Prakhar; Banda, Erin C.; Glatt-Deeley, Heather R.; Stoddard, Christopher E.; Linsley, Jeremy W.; Arora, Neha; Deleschaux, Cécile; Ahern, Darcy T.; Kondaveeti, Yuvabharath; Massey, Rachael E.; Nicouleau, Michael; Wang, Shijie; Sabariego Navarro, Miguel; Dierssen, Mara; Finkbeiner, Steven; Pinter, Stefan F. (American Association for the Advancement of Science (AAAS), 2024)
    Excess gene dosage from chromosome 21 (chr21) causes Down syndrome (DS), spanning developmental and acute phenotypes in terminal cell types. Which phenotypes remain amenable to intervention after development is unknown. ...
  • Chromosome compartments on the inactive X guide TAD formation independently of transcription during X-reactivation
    Bauer, Moritz, 1987-; Vidal, Enrique; Zorita, Eduard; Üresin, Nil; Pinter, Stefan F.; Filion, Guillaume; Payer, Bernhard (Nature Research, 2021)
    A hallmark of chromosome organization is the partition into transcriptionally active A and repressed B compartments, and into topologically associating domains (TADs). Both structures were regarded to be absent from the ...
  • Genome-wide identification of autosomal genes with allelic imbalance of chromatin state
    Savol, Andrej J.; Wang, Peggy I.; Jeon, Yesu; Colognori, David; Yildirim, Eda; Pinter, Stefan F.; Payer, Bernhard; Lee, Jeannie T.; Sadreyev, Ruslan Ilyasovich (Public Library of Science (PLoS), 2017)
    In mammals, monoallelic gene expression can result from X-chromosome inactivation, genomic imprinting, and random monoallelic expression (RMAE). Epigenetic regulation of RMAE is not fully understood. Here we analyze allelic ...

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