The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology

Mutations of the RNA granule component TDRD7 (OMIM: 611258) cause pediatric cataract. We applied an integrated approach to uncover the molecular pathology of cataract in Tdrd7−/− mice. Early postnatal Tdrd7−/− animals precipitously develop cataract suggesting a global-level breakdown/misregulation o...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Barnum, Carrie E, Al Saai, Salma, Patel, Shaili D, Cheng, Catherine, Anand, Deepti, Xu, Xiaolu, Dash, Soma, Siddam, Archana D, Glazewski, Lisa, Paglione, Emily, Polson, Shawn W, Chuma, Shinichiro, Mason, Robert W, Wei, Shuo, Batish, Mona, Fowler, Velia M, Lachke, Salil A
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
General Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7390939/
https://ncbi.nlm.nih.gov/pubmed/32420594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa096
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