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Human brain organoids assemble functionally integrated bilateral optic vesicles.
Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Schinzel F, Karch CM, Bao G, Gottardo M, Suren AA, Hescheler J, Nagel-Wolfrum K, Persico V, Rizzoli SO, Altmüller J, Riparbelli MG, Callaini G, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. Gabriel E, et al. Among authors: nagel wolfrum k. Cell Stem Cell. 2021 Oct 7;28(10):1740-1757.e8. doi: 10.1016/j.stem.2021.07.010. Epub 2021 Aug 17. Cell Stem Cell. 2021. PMID: 34407456 Free article.
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V. Sanjurjo-Soriano C, et al. Among authors: nagel wolfrum k. HGG Adv. 2023 Aug 7;4(4):100229. doi: 10.1016/j.xhgg.2023.100229. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37654703 Free PMC article.
Cilia - The sensory antennae in the eye.
May-Simera H, Nagel-Wolfrum K, Wolfrum U. May-Simera H, et al. Prog Retin Eye Res. 2017 Sep;60:144-180. doi: 10.1016/j.preteyeres.2017.05.001. Epub 2017 May 11. Prog Retin Eye Res. 2017. PMID: 28504201 Review.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ. Neuhaus C, et al. Mol Genet Genomic Med. 2017 Jul 6;5(5):531-552. doi: 10.1002/mgg3.312. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944237 Free PMC article.
Translational Read-Through Therapy of RPGR Nonsense Mutations.
Vössing C, Owczarek-Lipska M, Nagel-Wolfrum K, Reiff C, Jüschke C, Neidhardt J. Vössing C, et al. Int J Mol Sci. 2020 Nov 10;21(22):8418. doi: 10.3390/ijms21228418. Int J Mol Sci. 2020. PMID: 33182541 Free PMC article.
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A.
Beryozkin A, Samanta A, Gopalakrishnan P, Khateb S, Banin E, Sharon D, Nagel-Wolfrum K. Beryozkin A, et al. Among authors: nagel wolfrum k. Int J Mol Sci. 2022 Mar 24;23(7):3541. doi: 10.3390/ijms23073541. Int J Mol Sci. 2022. PMID: 35408898 Free PMC article.
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