Search Results - "Aquino, Gabriela S"
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Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells
Published in Development (Cambridge) (28-08-2018)“…Mutation in minor spliceosome components is linked to the developmental disorder microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Here, we…”
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Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia
Published in Development (Cambridge) (14-08-2020)“…Disruption of the minor spliceosome due to mutations in is linked to primordial dwarfism in microcephalic osteodysplastic primordial dwarfism type 1, Roifman…”
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Trp53 ablation fails to prevent microcephaly in mouse pallium with impaired minor intron splicing
Published in Development (Cambridge) (15-10-2021)“…Minor spliceosome inhibition due to mutations in RNU4ATAC are linked to primary microcephaly. Ablation of Rnu11, which encodes a minor spliceosome snRNA,…”
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Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia
Published in Development (Cambridge) (01-01-2020)“…Disruption of the minor spliceosome due to mutations in RNU4ATAC is linked to primordial dwarfism in microcephalic osteodysplastic primordial dwarfism type 1,…”
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Journal Article