Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Autor: de Bruijn, Suzanne E., Panneman, Daan M., Weisschuh, Nicole, Cadena, Elizabeth L., Boonen, Erica G. M., Holtes, Lara K., Astuti, Galuh D. N., Cremers, Frans P. M., Leijsten, Nico, Corominas, Jordi, Gilissen, Christian, Skowronska, Anna, Woodley, Jessica, Beggs, Andrew D., Toulis, Vasileios, Chen, Di, Cheetham, Michael E., Hardcastle, Alison J., McLaren, Terri L., Lamey, Tina M.

Publikováno v: Frontiers in Genetics; 2024, p1-12, 12p

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.

Autor: Dudakova, Lubica, Noskova, Lenka, Kmoch, Stanislav, Filipec, Martin, Filous, Ales, Davidson, Alice E., Toulis, Vasileios, Jedlickova, Jana, Skalicka, Pavlina, Hartmannova, Hana, Stranecky, Viktor, Drabova, Jana, Novotna, Drahuse, Havlovicova, Marketa, Sedlacek, Zdenek, Liskova, Petra

Publikováno v: Human Mutation; 1/4/2024, p1-10, 10p

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Zebrafish and mouse models for studying deubiquitinating enzyme genes as candidates for retinal dystrophies

Autor: Toulis, Vasileios

Publikováno v: TDX (Tesis Doctorals en Xarxa)
TDR. Tesis Doctorales en Red
Consejo Superior de Investigaciones Científicas (CSIC)
Dipòsit Digital de la UB
Universidad de Barcelona

The retina consists of several structured layers of highly specialized neurons that capture and process light stimuli enabling vision. Such a fine architecture turns retinal differentiation into an extremely complex event that must be accurately regu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6c8bb565cdad6c1aded04ee3dbc6d58b
http://hdl.handle.net/2445/184856

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