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Items: 1 to 20 of 83

1.
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand-Saïd, Birgit Lorenz, Christoph Friedburg, Markus Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova-Doumanova, Wolfgang Berger, Bernd Wissinger, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylene Le Meur, Ingele Casteels, Robert Koenekoop, Vernon W. Long, Francoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim Nguyen-Ba-Charvet, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Am J Hum Genet. 2012 Feb 10; 90(2): 321–330. doi: 10.1016/j.ajhg.2011.12.007
Correction in:
Am J Hum Genet. 2012 Jul 13; 91(1): 209.
PMCID:
PMC3276675
ArticlePDF–828K
2.
GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness
Neal S. Peachey, Thomas A. Ray, Ralph Florijn, Lucy B. Rowe, Trijntje Sjoerdsma, Susana Contreras-Alcantara, Kenkichi Baba, Gianluca Tosini, Nikita Pozdeyev, P. Michael Iuvone, Pasano Bojang, Jr., Jillian N. Pearring, Huibert Jan Simonsz, Maria van Genderen, David G. Birch, Elias I. Traboulsi, Allison Dorfman, Irma Lopez, Huanan Ren, Andrew F.X. Goldberg, Patsy M. Nishina, Pierre Lachapelle, Maureen A. McCall, Robert K. Koenekoop, Arthur A.B. Bergen, Maarten Kamermans, Ronald G. Gregg
Am J Hum Genet. 2012 Feb 10; 90(2): 331–339. doi: 10.1016/j.ajhg.2011.12.006
PMCID:
PMC3276656
ArticlePDF–978K
3.
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand-Saïd, Kinga Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus Preising, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort-Dhellemmes, Bernd Wissinger, Thierry Léveillard, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Wolfgang Berger, Samuel G. Jacobson, Eberhart Zrenner, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Am J Hum Genet. 2009 Nov 13; 85(5): 720–729. doi: 10.1016/j.ajhg.2009.10.013
PMCID:
PMC2775830
ArticlePDF–760K
4.
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency
Elise Orhan, Marion Neuillé, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Int J Mol Sci. 2021 May; 22(9): 4424. Published online 2021 Apr 23. doi: 10.3390/ijms22094424
PMCID:
PMC8122890
ArticlePDF–4.7M
5.
Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
Christina Zeitz, Samuel G. Jacobson, Christian P. Hamel, Kinga Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie-Elise Lancelot, Christelle Michiels, Sharon B. Schwartz, Béatrice Bocquet, Congenital Stationary Night Blindness Consortium, Aline Antonio, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, Tien D. Luu, Florian Sennlaub, Hoan Nguyen, Olivier Poch, Hélène Dollfus, Odile Lecompte, Susanne Kohl, José-Alain Sahel, Shomi S. Bhattacharya, Isabelle Audo
Am J Hum Genet. 2013 Jan 10; 92(1): 67–75. doi: 10.1016/j.ajhg.2012.10.023
PMCID:
PMC3542465
ArticlePDF–738K
6.
Sequence variations of GRM6 in patients with high myopia
Xiaoyu Xu, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang
Mol Vis. 2009; 15: 2094–2100. Published online 2009 Oct 19.
PMCID:
PMC2765235
ArticlePDF–1.7M
7.
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu, Ningdong Li
Orphanet J Rare Dis. 2024; 19: 101. Published online 2024 Mar 6. doi: 10.1186/s13023-024-03091-3
PMCID:
PMC10918914
ArticlePDF–1.8M
8.
Melatonin attenuates chronic sleep deprivation‐induced cognitive deficits and HDAC3‐Bmal1/clock interruption
Yujie Hu, Yefan Lv, Xiaoyan Long, Guoshuai Yang, Jinxia Zhou
CNS Neurosci Ther. 2024 Mar; 30(3): e14474. Published online 2023 Sep 18. doi: 10.1111/cns.14474
PMCID:
PMC10916425
ArticlePDF–13M
9.
The rod synapse in aging wildtype and Dscaml1 mutant mice
Mellisa R. Clemons, Ren H. Dimico, Cailyn Black, Megan K. Schlussler, Michael J. Camerino, Kirah Aldinger-Gibson, Amaris Bartle, Nathan Reynolds, Dylan Eisenbrandt, Aspen Rogers, John Andrianu, Bradley Bruce, Arthur Elliot, Tom Breazeal, Hannah Griffin, Molly K. Murphy, Peter G. Fuerst
PLoS One. 2023; 18(11): e0290257. Published online 2023 Nov 1. doi: 10.1371/journal.pone.0290257
PMCID:
PMC10619811
ArticlePDF–3.1M
10.
Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels
Thomas Heigl, Michael A. Netzer, Lucia Zanetti, Matthias Ganglberger, Monica L. Fernández-Quintero, Alexandra Koschak
Channels (Austin) 2023; 17(1): 2192360. Published online 2023 Mar 21. doi: 10.1080/19336950.2023.2192360
PMCID:
PMC10038055
ArticlePDF–6.2M
11.
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, José Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz
Int J Mol Sci. 2023 Jan; 24(1): 219. Published online 2022 Dec 22. doi: 10.3390/ijms24010219
PMCID:
PMC9820543
ArticlePDF–1.1M
12.
Congenital Stationary Night Blindness: Clinical and Genetic Features
Angela H. Kim, Pei-Kang Liu, Yin-Hsi Chang, Eugene Yu-Chuan Kang, Hung-Hsuan Wang, Nelson Chen, Yun-Ju Tseng, Go Hun Seo, Hane Lee, Laura Liu, An-Ning Chao, Kuan-Jen Chen, Yih-Shiou Hwang, Wei-Chi Wu, Chi-Chun Lai, Stephen H. Tsang, Meng-Chang Hsiao, Nan-Kai Wang
Int J Mol Sci. 2022 Dec; 23(23): 14965. Published online 2022 Nov 29. doi: 10.3390/ijms232314965
PMCID:
PMC9740538
ArticlePDF–3.0M
13.
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells
Vasily M. Smirnov, Matthieu P. Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Jean-Michel Rozet, José-Alain Sahel, Isabelle Perrault, Isabelle Audo, Christina Zeitz
JAMA Ophthalmol. 2022 Dec; 140(12): 1163–1173. Published online 2022 Oct 20. doi: 10.1001/jamaophthalmol.2022.4146
PMCID:
PMC9585472
Article
14.
Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-congenital stationary night blindness
Keiko Miyadera, Evelyn Santana, Karolina Roszak, Sommer Iffrig, Meike Visel, Simone Iwabe, Ryan F. Boyd, Joshua T. Bartoe, Yu Sato, Alexa Gray, Ana Ripolles-Garcia, Valérie L. Dufour, Leah C. Byrne, John G. Flannery, William A. Beltran, Gustavo D. Aguirre
Proc Natl Acad Sci U S A. 2022 Mar 29; 119(13): e2117038119. Published online 2022 Mar 22. doi: 10.1073/pnas.2117038119
PMCID:
PMC9060458
ArticlePDF–1.9M
15.
Cav1.4 dysfunction and congenital stationary night blindness type 2
Alexandra Koschak, Monica L. Fernandez-Quintero, Thomas Heigl, Marco Ruzza, Hartwig Seitter, Lucia Zanetti
Pflugers Arch. 2021; 473(9): 1437–1454. Published online 2021 Jul 1. doi: 10.1007/s00424-021-02570-x
PMCID:
PMC8370969
ArticlePDF–3.7M
16.
Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness
Nancy Huynh, Brett G. Jeffrey, Amy Turriff, Paul A Sieving, Catherine A. Cukras
Ophthalmic Genet. Author manuscript; available in PMC 2021 Jul 31.
Published in final edited form as: Ophthalmic Genet. 2014 Mar; 35(1): 51–56. Published online 2014 Jan 7. doi: 10.3109/13816810.2013.865762
PMCID:
PMC8325388
ArticlePDF–566K
17.
Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness
Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, Ajoy Vincent
Genes (Basel) 2021 Mar; 12(3): 330. Published online 2021 Feb 25. doi: 10.3390/genes12030330
PMCID:
PMC7996180
ArticlePDF–7.6M
18.
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, Igor Kozak
Genes (Basel) 2021 Feb; 12(2): 171. Published online 2021 Jan 27. doi: 10.3390/genes12020171
PMCID:
PMC7911795
ArticlePDF–3.2M
19.
Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels
Brittany Williams, Josue A. Lopez, J. Wesley Maddox, Amy Lee
J Biol Chem. 2020 Dec 11; 295(50): 17215–17226. Published online 2020 Oct 8. doi: 10.1074/jbc.RA120.014138
PMCID:
PMC7863891
ArticlePDF–4.4M
20.
Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A)
Derek M. Waldner, Kenichi Ito, Li-Li Chen, Lisa Nguyen, Robert L. Chow, Amy Lee, Derrick E. Rancourt, Francois Tremblay, William K. Stell, N. Torben Bech-Hansen
Transl Vis Sci Technol. 2020 Oct; 9(11): 19. Published online 2020 Oct 14. doi: 10.1167/tvst.9.11.19
PMCID:
PMC7571326
ArticlePDF–5.0M

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