Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

In a large family of Czech origin, we mapped a locus for an autosomal-dominant corneal endothelial dystrophy, posterior polymorphous corneal dystrophy 4 (PPCD4), to 8q22.3–q24.12. Whole-genome sequencing identified a unique variant (c.20+544G>T) in this locus, within an intronic regulatory region...

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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985340/
https://ncbi.nlm.nih.gov/pubmed/29499165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.02.002
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