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Items: 1 to 20 of 108

1.
CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions
Gucan Dai, Michael D. Varnum
Am J Physiol Cell Physiol. 2013 Jul 15; 305(2): C147–C159. Published online 2013 Apr 3. doi: 10.1152/ajpcell.00037.2013
PMCID:
PMC3725626
ArticlePubReaderCite
2.
High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs
Laura Siles, Paula Gaudó, Esther Pomares
Int J Mol Sci. 2023 Feb; 24(4): 3655. Published online 2023 Feb 11. doi: 10.3390/ijms24043655
PMCID:
PMC9964936
ArticlePubReaderPDF–4.3MCite
3.
Clinical and Genetic Features of Korean Patients with Achromatopsia
Yong Je Choi, Kwangsic Joo, Hyun Taek Lim, Sung Soo Kim, Jinu Han, Se Joon Woo
Genes (Basel) 2023 Feb; 14(2): 519. Published online 2023 Feb 18. doi: 10.3390/genes14020519
PMCID:
PMC9957537
ArticlePubReaderPDF–2.3MCite
4.
Quantitative and Qualitative Characterization of Retinal Dystrophies in Canine Models of Inherited Retinal Diseases Using Spectral Domain Optical Coherence Tomography (SD-OCT)
Shin Ae Park, Jamie Rhodes, Simone Iwabe, Gui-Shuang Ying, Wei Pan, Jiayan Huang, András M. Komáromy
Exp Eye Res. Author manuscript; available in PMC 2023 Jul 1.
Published in final edited form as: Exp Eye Res. 2022 Jul; 220: 109106. Published online 2022 May 16. doi: 10.1016/j.exer.2022.109106
PMCID:
PMC9789526
ArticlePubReaderPDF–2.0MCite
5.
Foveal Cone Structure in Patients With Blue Cone Monochromacy
Emily J. Patterson, Angelos Kalitzeos, Thomas M. Kane, Navjit Singh, Joseph Kreis, Mark E. Pennesi, Alison J. Hardcastle, Jay Neitz, Maureen Neitz, Michel Michaelides, Joseph Carroll
Invest Ophthalmol Vis Sci. 2022 Oct; 63(11): 23. Published online 2022 Oct 27. doi: 10.1167/iovs.63.11.23
PMCID:
PMC9624264
ArticlePubReaderPDF–1.7MCite
6.
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Wan-Yu Cheng, Mei-Jiao Ma, Shi-Qin Yuan, Xiao-long Qi, Wei-Ning Rong, Xun-Lun Sheng
BMC Ophthalmol. 2022; 22: 386. Published online 2022 Sep 26. doi: 10.1186/s12886-022-02597-3
PMCID:
PMC9511775
ArticlePubReaderPDF–1.4MCite
7.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study
Helen J Kuht, Gail DE Maconachie, Jinu Han, Line Kessel, Maria M van Genderen, Rebecca J McLean, Michael Hisaund, Zhanhan Tu, Richard W Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K Chen, Rachael C Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C Engle, Frank A Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G Thomas
Ophthalmology. Author manuscript; available in PMC 2023 Jun 1.
Published in final edited form as: Ophthalmology. 2022 Jun; 129(6): 708–718. Published online 2022 Feb 11. doi: 10.1016/j.ophtha.2022.02.010
PMCID:
PMC9341240
ArticlePubReaderPDF–816KCite
8.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V. Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Beatrice Bocquet, Elias I. Traboulsi, Alison J. Hardcastle, Jessica C. Gardner, Michel Michaelides, Kari E. Branham, Thomas Rosenberg, Sten Andreasson, Hélène Dollfus, David Birch, Andrea L. Vincent, Loreto Martorell, Jaume Català Mora, Ulrich Kellner, Klaus Rüther, Birgit Lorenz, Markus N. Preising, Emanuela Manfredini, Yuri A. Zarate, Raymon Vijzelaar, Eberhart Zrenner, Samuel G. Jacobson, Susanne Kohl
Proc Natl Acad Sci U S A. 2022 Jul 5; 119(27): e2115538119. Published online 2022 Jun 27. doi: 10.1073/pnas.2115538119
PMCID:
PMC9271157
ArticlePubReaderPDF–1.7MCite
9.
Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
Sairah Yousaf, Nabeela Tariq, Zureesha Sajid, Shakeel A. Sheikh, Tasleem Kausar, Yar M. Waryah, Rehan S. Shaikh, Ali M. Waryah, Saumil Sethna, Saima Riazuddin, Zubair M. Ahmed
Genes (Basel) 2022 Apr; 13(4): 617. Published online 2022 Mar 29. doi: 10.3390/genes13040617
PMCID:
PMC9031457
ArticlePubReaderPDF–3.6MCite
10.
Achromatopsia: Genetics and Gene Therapy
Stylianos Michalakis, Maximilian Gerhardt, Günther Rudolph, Siegfried Priglinger, Claudia Priglinger
Mol Diagn Ther. 2022; 26(1): 51–59. Published online 2021 Dec 3. doi: 10.1007/s40291-021-00565-z
PMCID:
PMC8766373
ArticlePubReaderPDF–1.1MCite
11.
CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle
Irene M. Häfliger, Emma Marchionatti, Michele Stengård, Sonja Wolf-Hofstetter, Julia M. Paris, Joana G. P. Jacinto, Christine Watté, Katrin Voelter, Laurence M. Occelli, András M. Komáromy, Anna Oevermann, Christine Goepfert, Angelica Borgo, Raphaël Roduit, Mirjam Spengeler, Franz R. Seefried, Cord Drögemüller
Int J Mol Sci. 2021 Nov; 22(22): 12440. Published online 2021 Nov 18. doi: 10.3390/ijms222212440
PMCID:
PMC8620519
ArticlePubReaderPDF–2.8MCite
12.
Cortical Visual Mapping following Ocular Gene Augmentation Therapy for Achromatopsia
Ayelet McKyton, Edward Averbukh, Devora Marks Ohana, Netta Levin, Eyal Banin
J Neurosci. 2021 Sep 1; 41(35): 7363–7371. doi: 10.1523/JNEUROSCI.3222-20.2021
PMCID:
PMC8412991
ArticlePubReaderPDF–1.8MCite
13.
Retinal Morphology of Patients With Achromatopsia During Early Childhood: Implications for Gene Therapy
Paul Yang, Keith V. Michaels, Robert J. Courtney, Yuquan Wen, Daniel A. Greninger, Leah Reznick, Daniel J. Karr, Lorri B. Wilson, Richard G. Weleber, Mark E. Pennesi
JAMA Ophthalmol. Author manuscript; available in PMC 2021 Jun 3.
Published in final edited form as: JAMA Ophthalmol. 2014 Jul; 132(7): 823–831. doi: 10.1001/jamaophthalmol.2014.685
PMCID:
PMC8174570
ArticlePubReaderPDF–747KCite
14.
The cGMP-Dependent Protein Kinase 2 Contributes to Cone Photoreceptor Degeneration in the Cnga3-Deficient Mouse Model of Achromatopsia
Mirja Koch, Constanze Scheel, Hongwei Ma, Fan Yang, Michael Stadlmeier, Andrea F. Glück, Elisa Murenu, Franziska R. Traube, Thomas Carell, Martin Biel, Xi-Qin Ding, Stylianos Michalakis
Int J Mol Sci. 2021 Jan; 22(1): 52. Published online 2020 Dec 23. doi: 10.3390/ijms22010052
PMCID:
PMC7793084
ArticlePubReaderPDF–3.9MCite
15.
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial
M. Dominik Fischer, Stylianos Michalakis, Barbara Wilhelm, Ditta Zobor, Regine Muehlfriedel, Susanne Kohl, Nicole Weisschuh, G. Alex Ochakovski, Reinhild Klein, Christian Schoen, Vithiyanjali Sothilingam, Marina Garcia-Garrido, Laura Kuehlewein, Nadine Kahle, Annette Werner, Daniyar Dauletbekov, François Paquet-Durand, Stephen Tsang, Peter Martus, Tobias Peters, Mathias Seeliger, Karl Ulrich Bartz-Schmidt, Marius Ueffing, Eberhart Zrenner, Martin Biel, Bernd Wissinger
JAMA Ophthalmol. 2020 Jun; 138(6): 1–9. Published online 2020 Apr 30. doi: 10.1001/jamaophthalmol.2020.1032
PMCID:
PMC7193523
ArticlePubReaderCite
16.
Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up
Nashila Hirji, Michalis Georgiou, Angelos Kalitzeos, James W. Bainbridge, Neruban Kumaran, Jonathan Aboshiha, Joseph Carroll, Michel Michaelides
Invest Ophthalmol Vis Sci. 2018 Dec; 59(15): 5735–5744. doi: 10.1167/iovs.18-25452
PMCID:
PMC6280917
ArticlePubReaderPDF–1.1MCite
17.
Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene
Orsolya Orosz, Miklós Czeglédi, Irén Kántor, István Balogh, Attila Vajas, Lili Takács, András Berta, Gergely Losonczy
Mol Vis. 2015; 21: 124–130. Published online 2015 Feb 5.
PMCID:
PMC4323689
ArticlePubReaderPDF–2.5MCite
18.
The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic
Joseph Carroll, Alfredo Dubra, Jessica C. Gardner, Liliana Mizrahi-Meissonnier, Robert F. Cooper, Adam M. Dubis, Rick Nordgren, Mohamed Genead, Thomas B. Connor, Jr, Kimberly E. Stepien, Dror Sharon, David M. Hunt, Eyal Banin, Alison J. Hardcastle, Anthony T. Moore, David R. Williams, Gerald Fishman, Jay Neitz, Maureen Neitz, Michel Michaelides
Invest Ophthalmol Vis Sci. 2012 Dec; 53(13): 8006–8015. Published online 2012 Dec 5. doi: 10.1167/iovs.12-11087
PMCID:
PMC3816954
ArticlePubReaderPDF–906KCite
19.
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia
Connie Y Yeh, Orly Goldstein, Anna V Kukekova, Debbie Holley, Amy M Knollinger, Heather J Huson, Susan E Pearce-Kelling, Gregory M Acland, András M Komáromy
BMC Genet. 2013; 14: 27. Published online 2013 Apr 20. doi: 10.1186/1471-2156-14-27
PMCID:
PMC3639114
ArticlePubReaderPDF–3.1MCite
20.
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
Tanja Grau, Nikolai O. Artemyev, Thomas Rosenberg, Hélène Dollfus, Olav H. Haugen, E. Cumhur Sener, Bernhard Jurklies, Sten Andreasson, Christoph Kernstock, Michael Larsen, Eberhart Zrenner, Bernd Wissinger, Susanne Kohl
Hum Mol Genet. 2011 Feb 15; 20(4): 719–730. Published online 2010 Dec 1. doi: 10.1093/hmg/ddq517
PMCID:
PMC3269206
ArticlePubReaderPDF–456KCite

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