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Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2

Autor: Davidson, Alice E, Liskova, Petra, Evans, Cerys J, Dudakova, Lubica, Noskova, Lenka, Pontikos, Nikolas, Hartmannova, Hana, Hodanova, Katerina, Stranecky, Viktor, Kozmik, Zbynek, Levis, Hannah J, Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J, Bellingham, James, Veli, Neyme, Ebenezer, Neil D, Cheetham, Michael E, Daniels, Julie T, Thaung, Caroline MH, Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J, Hardcastle, Alison J

Publikováno v: AMERICAN JOURNAL OF HUMAN GENETICS

Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::90350a0656ece1e03a7f2ff3437ae849
https://doi.org/10.1016/j.ajhg.2015.11.018

Detection and Quantification of Histone Methyltransferase Activity In Vitro.

Autor: Idigo NJ; Wellcome Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, UK., Voigt P; Epigenetics Programme, Babraham Institute, Cambridge, UK. philipp.voigt@babraham.ac.uk.; Wellcome Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, UK. philipp.voigt@babraham.ac.uk.

Publikováno v: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2022; Vol. 2529, pp. 43-61.