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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985340/
https://www.ncbi.nlm.nih.gov/pubmed/29499165
http://dx.doi.org/10.1016/j.ajhg.2018.02.002

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