Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Anton Aboukhalil
PROVIDER: E-GEOD-25776 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Lachke Salil A SA Alkuraya Fowzan S FS Kneeland Stephen C SC Ohn Takbum T Aboukhalil Anton A Howell Gareth R GR Saadi Irfan I Cavallesco Resy R Yue Yingzi Y Tsai Anne C-H AC Nair K Saidas KS Cosma Mihai I MI Smith Richard S RS Hodges Emily E Alfadhli Suad M SM Al-Hajeri Amal A Shamseldin Hanan E HE Behbehani Abdulmutalib A Hannon Gregory J GJ Bulyk Martha L ML Drack Arlene V AV Anderson Paul J PJ John Simon W M SW Maas Richard L RL
Science (New York, N.Y.) 20110301 6024
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]