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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
General Article
Linkit: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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