Dataset Information


Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

ABSTRACT: This SuperSeries is composed of the following subset Series: GSE25774: Genome-wide analysis of Tdrd7 knockdown in lens epithelial-derived cell line 21EM15 GSE25775: Genome-wide analysis of 4-day old (P4) Tdrd7 null mouse lens GSE25776: Genome-wide analysis of 1 month old (P30) Tdrd7 null mouse lens Refer to individual Series

ORGANISM(S): Mus musculus  

SUBMITTER: Anton Aboukhalil  

PROVIDER: E-GEOD-25812 | ArrayExpress | 2012-02-21



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The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is less clear. Cytoplasmic RNA granules (RGs) function in the posttranscriptional control of gene expression, but the extent of RG involvement in organogenesis is unknown. We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as g  ...[more]

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