Article
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
Science (New York, N.Y.) - 25 Mar 2011
Lachke Salil A, Alkuraya Fowzan S, Kneeland Stephen C, Ohn Takbum, Aboukhalil Anton, Howell Gareth R, Saadi Irfan, Cavallesco Resy, Yue Yingzi, Tsai Anne C-H, Nair K Saidas, Cosma Mihai I, Smith Richard S, Hodges Emily, Alfadhli Suad M, Al-Hajeri Amal, Shamseldin Hanan E, Behbehani Abdulmutalib, Hannon Gregory J, Bulyk Martha L, Drack Arlene V, Anderson Paul J, John Simon W M, Maas Richard L
Abstract excerpt
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...
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