Suzanne de Bruijn

162 Chapter 3.2 REFERENCES 1. de Bruijn, S.E., Smits, J.J., Liu, C., Lanting, C.P., Beynon, A.J., Blankevoort, J. et al. A RIPOR2 in- frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. Journal of Medical Genetics 58 , 96-104 (2021). 2. Kunst, H., Marres, H., Huygen, P., Van Duijnhoven, G., Krebsova, A., Van der Velde, S. et al. Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Clinical Otolaryngology & Allied Sciences 25 , 45-54 (2000). 3. De Brouwer, A.P.M., Kunst, H.P.M., Krebsova, A., van Asseldonk, K., Reis, A., Snoeckx, R.L. et al. Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. American Journal of Medical Genetics 137A , 41-46 (2005). 4. Zhao, B.,Wu, Z. &Müller, U. Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. eLife 5 , e14222 (2016). 5. Diaz-Horta, O., Abad, C., Cengiz, F.B., Bademci, G., Blackwelder, P., Walz, K. et al. Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation. Journal of Molecular Medicine 96 , 1227-1238 (2018). 6. Diaz-Horta, O., Subasioglu-Uzak, A., Grati, M.h., DeSmidt, A., Foster, J., Cao, L. et al. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proceedings of the National Academy of Sciences 111 , 9864-9868 (2014). 7. Vickers, T.A. & Crooke, S.T. The rates of the major steps in the molecular mechanism of RNase H1-dependent antisense oligonucleotide induced degradation of RNA. Nucleic Acids Research 43 , 8955-8963 (2015). 8. Crooke, S.T. Molecular mechanisms of action of antisense drugs. Biochimica et Biophysica Acta 1489 , 31-44 (1999). 9. Vickers, T.A. & Crooke, S.T. Antisense oligonucleotides capable of promoting specific target mRNA reduction via competing RNase H1-dependent and independent mechanisms. PLOS ONE 9 , e108625 (2014). 10. Crooke, S.T., Baker, B.F., Crooke, R.M. & Liang, X.-h. Antisense technology: an overview and prospectus. Nature Reviews Drug Discovery Online ahead of print (2021). 11. de Vrieze, E., Cañas Martín, J., Peijnenborg, J., Martens, A., Oostrik, J., van den Heuvel, S. et al. AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9. Molecular Therapy - Nucleic Acids 24 , 274-283 (2021). 12. Hammond, S.M., Aartsma-Rus, A., Alves, S., Borgos, S.E., Buijsen, R.A.M., Collin, R.W.J. et al. Delivery of oligonucleotide-based therapeutics: challenges and opportunities. EMBO Molecular Medicine 13 , e13243 (2021). 13. Vázquez-Domínguez, I., Garanto, A. & Collin, R.W.J. Molecular therapies for inherited retinal diseases-current standing, opportunities and challenges. Genes (Basel) 10 , 654 (2019). 14. Delmaghani, S. & El-Amraoui, A. Inner ear gene therapies take off: Current promises and future challenges. Journal of Clinical Medicine 9 , 2309 (2020).