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Ummi Ciptasari on Muck Rack

Ummi Ciptasari

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Articles

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment - Nature Communications

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By Rudrarup Bhattacharjee, Mark Corbett, Tarin Ritchie, Sandra G. Piltz, Jacqueline E. Noll, Gareth Baynam, Raman Kumar, Ummi Ciptasari, Nazzmer Nazri
| Nature Verified
Abstract We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the molecular pathology of this essential eukaryotic gene, we generated a mouse model based on a hypomorphic Thoc2 exon 37–38 deletion variant of a patient with ID, speech delay, hypotonia, and microcephaly.
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