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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ. Liskova P, et al. Among authors: dudakova l. Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002. Am J Hum Genet. 2018. PMID: 29499165 Free PMC article.
Macular corneal dystrophy and associated corneal thinning.
Dudakova L, Palos M, Svobodova M, Bydzovsky J, Huna L, Jirsova K, Hardcastle AJ, Tuft SJ, Liskova P. Dudakova L, et al. Eye (Lond). 2014 Oct;28(10):1201-5. doi: 10.1038/eye.2014.164. Epub 2014 Aug 1. Eye (Lond). 2014. PMID: 25081284 Free PMC article.
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.
Liskova P, Evans CJ, Davidson AE, Zaliova M, Dudakova L, Trkova M, Stranecky V, Carnt N, Plagnol V, Vincent AL, Tuft SJ, Hardcastle AJ. Liskova P, et al. Among authors: dudakova l. Eur J Hum Genet. 2016 Jul;24(7):985-91. doi: 10.1038/ejhg.2015.232. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508574 Free PMC article.
62 results