USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R.
Br J Ophthalmol. 2021 May;105(5):694-703. doi: 10.1136/bjophthalmol-2019-315786. Epub 2020 Jul 16.
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ.
Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L.
Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13.
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G.
Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723.
Retinitis pigmentosa.
Merin S, Auerbach E.
Surv Ophthalmol. 1976 Mar-Apr;20(5):303-46. doi: 10.1016/s0039-6257(96)90001-6.
Vascular dysfunction in retinitis pigmentosa.
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC.
Acta Ophthalmol. 2019 Nov;97(7):660-664. doi: 10.1111/aos.14138. Epub 2019 May 17.
Minocycline prevents photoreceptor degeneration in Retinitis pigmentosa through modulating mitochondrial homeostasis.
Shi Y, Chen Y, Pan Y, Chen G, Xiao Z, Chen X, Wang M, Liang D.
Int Immunopharmacol. 2024 Sep 30;139:112703. doi: 10.1016/j.intimp.2024.112703. Epub 2024 Jul 17.
Alleviation of Photoreceptor Degeneration Based on Fullerenols in rd1 Mice by Reversing Mitochondrial Dysfunction via Modulation of Mitochondrial DNA Transcription and Leakage.
Yang J, Chen X, A L, Gao H, Zhao M, Ge L, Li M, Yang C, Gong Y, Gu Z, Xu H.
Small. 2023 Nov;19(44):e2205998. doi: 10.1002/smll.202205998. Epub 2023 Jul 5.
Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.
Occelli LM, Zobel L, Stoddard J, Wagner J, Pasmanter N, Querubin J, Renner LM, Reynaga R, Winkler PA, Sun K, Marinho LFLP, O'Riordan CR, Frederick A, Lauer A, Tsang SH, Hauswirth WW, McGill TJ, Neuringer M, Michalakis S, Petersen-Jones SM.
Mol Ther. 2023 Jul 5;31(7):2028-2041. doi: 10.1016/j.ymthe.2023.04.005. Epub 2023 Apr 13.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S.
HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13.
