PMC Articles for MedGen (Select 83289) - PMC

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

Abstract Article PDF–1.1M

Select item 97405385.

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

Abstract Article PDF–3.0M

Select item 95854726.

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

Abstract Article

Select item 90604587.

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

Abstract Article PDF–1.9M

Select item 83709698.

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

Abstract Article PDF–3.7M

Select item 83393579.

Substantial restoration of night vision in adult mice with congenital stationary night blindness

Juliette Varin, Nassima Bouzidi, Gregory Gauvain, Corentin Joffrois, Melissa Desrosiers, Camille Robert, Miguel Miranda De Sousa Dias, Marion Neuillé, Christelle Michiels, Marco Nassisi, José-Alain Sahel, Serge Picaud, Isabelle Audo, Deniz Dalkara, Christina Zeitz

Mol Ther Methods Clin Dev. 2021 Sep 10; 22: 15–25. Published online 2021 May 21. doi: 10.1016/j.omtm.2021.05.008

PMCID:: PMC8339357

Abstract Article PDF–2.6M

Select item 832538810.

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

Abstract Article PDF–566K

Select item 822403011.

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Hyeong-Min Kim, Kwangsic Joo, Jinu Han, Se-Joon Woo

Genes (Basel) 2021 Jun; 12(6): 789. Published online 2021 May 21. doi: 10.3390/genes12060789

PMCID:: PMC8224030

Abstract Article PDF–29M

Select item 799618012.

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

Abstract Article PDF–7.6M

Select item 791179513.

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

Abstract Article PDF–3.2M

Select item 787638714.

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment

Tal T. Sadeh, Graeme C. Black, Forbes Manson

Front Genet. 2021; 12: 637780. Published online 2021 Jan 28. doi: 10.3389/fgene.2021.637780

PMCID:: PMC7876387

Abstract Article PDF–780K

Select item 786389115.

Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca_v1.4 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

Abstract Article PDF–4.4M

Select item 757132616.

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

Abstract Article PDF–5.0M

Select item 693721817.

Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness

Haneen Al-Hujaili, Ibrahim Taskintuna, Christine Neuhaus, Carsten Bergmann, Patrik Schatz

Mol Vis. 2019; 25: 851–858. Published online 2019 Dec 19.

PMCID:: PMC6937218

Abstract Article PDF–1.9M

Select item 690038818.

Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing

Hong‐Yan Liu, Jia Huang, Hai Xiao, Ming‐Jie Zhang, Fei‐Fei Shi, Ying‐Hai Jiang, Han Du, Qingzhong He, Zheng‐Yuan Wang

Mol Genet Genomic Med. 2019 Dec; 7(12): e952. Published online 2019 Nov 2. doi: 10.1002/mgg3.952

PMCID:: PMC6900388

Abstract Article PDF–455K

Select item 680461819.

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Yoel Hirsch, David A. Zeevi, Byron L. Lam, Sholem Y. Scher, Rachel Bringer, Bitya Cherki, Cadina C. Cohen, Hagit Muallem, John (Pei-Wen) Chiang, Madhulatha Pantrangi, Josef Ekstein, Martin M. Johansson

Hum Genome Var. 2019; 6: 45. Published online 2019 Sep 12. doi: 10.1038/s41439-019-0076-4

PMCID:: PMC6804618

Abstract Article PDF–670K

Select item 677510520.

Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness

Rueben G. Das, Doreen Becker, Vidhya Jagannathan, Orly Goldstein, Evelyn Santana, Kendall Carlin, Raghavi Sudharsan, Tosso Leeb, Yuji Nishizawa, Mineo Kondo, Gustavo D. Aguirre, Keiko Miyadera

Sci Rep. 2019; 9: 14166. Published online 2019 Oct 2. doi: 10.1038/s41598-019-50573-7